Rare Disease Day 2019

When we started this blog, we believed that today, February 28, 2019, would not come for Katherine.

We’d lost our first child from an early miscarriage. Then, we found ourselves shocked and shattered as we looked into the tear-filled eyes of neurologists telling us to, “Go home and love our daughter.” Our precious Rainbow Baby was slowly dying before our eyes.

As we pushed for answers to the cause of her neurodegenerative disease, we were utterly lost and terrified. Terrified of what they would find, terrified of the pain she might feel, terrified of watching her take her last breath and losing her forever. Amidst our fears, we had to find the strength to face these fears – strength I didn’t believe I had inside of me.

I remember sitting inside a pediatric surgery center and looking around the room into the eyes of a couple dozen frightened parents awaiting news. The look in their eyes still haunts me. I didn’t need a mirror to show me that I had the same terrified look in my eyes. I couldn’t breathe. I felt like I had nowhere to run to make it all go away. I wanted to wake up from this nightmare and go on with my life. All at once I was angry, confused, scared, and sad. I desperately wanted to believe it wasn’t true, but it was really happening. It was real and I could not stop it. Please, I pleaded with the universe, please make this stop. Why, I questioned? Why is life so unfair? My sweet, innocent daughter did not deserve this. It was an incredibly helpless feeling.

I had fallen into utter despair with no light to see me through it. In my very worst moment, I closed my eyes, quieted my thoughts, and had the most incredible vision:

Dave and I were walking on an empty beach. It was a beautiful beach with white sand, blue water, a gentle warm breeze was blowing in our hair and on our faces. We were smiling and content. Peace surrounded us. Ahead, Katherine wore a yellow swimsuit and played in the sand with her back to us. She was looking toward the water, but in my heart I knew she was happy and having fun. We were all together on that beach and we were happy. As we walked in the sand toward Katherine, it felt as though we were walking in paradise.

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This vision and feeling has and continues to sustain me through my darkest hours. I found my strength in my lowest place.

Thank you for reading our words and loving our daughter. Just a few short years ago we had little reason to hope that Katherine would live to see February 28, 2019. Yet today, Rare Disease Day 2019, was an average, normal day for us. Katherine got up, ate breakfast, and walked into school with the assistance of her walker and her aide. She asked me if I would paint her nails glittery pink before her tutoring session tonight. As she walked away, I looked back and smiled.

An average day is the most beautiful thing in the world. May you all find the joy in every glorious, average day of your life.

P.S. – Thank you to each of you who’ve followed our blog the last five years. We are forever thankful for your prayers, support, and the many ways you’ve helped raise awareness for Katherine’s rare mitochondrial disease. This is not goodbye. We are now putting all of our efforts in our 501(c)(3) nonprofit, NUBPL Foundation, with the mission to raise awareness and fund research toward the development of life-saving, life-enhancing treatments and a cure for NUBPL, a mitochondrial complex 1 deficiency disorder. We invite you to follow along as we grow our global patient community and raise awareness. Follow us on Facebook and the NUBPL Foundation website.

NUBPL: Novel Disease Discovery to Community

Here’s a brief timeline from 2010-Present of NUBPL as a novel disease discovery to a growing community:

2010: Australian researchers reported “a strategy of focused candidate gene prediction, high-throughput sequencing, and experimental validation to uncover the molecular basis of mitochondrial complex I (CI) disorders.” They created five pools of DNA from a cohort of 103 patients and then performed deep sequencing of 103 candidate genes to spotlight 151 rare variants predicted to impact protein function.

Two novel genes were discovered in this study – one of them was NUBPL. To read more: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2977978/

In 2017, I was able to find the boy in this study, Patient 1. He is 18 years old and living in New Zealand with him mom.

2012: Dutch researchers set out to identify the mutated gene in a group of patients with an unclassified white matter disorder that shared the same distinct MRI pattern. They used MRI pattern recognition analysis to select a group of patients with a similar characteristic MRI pattern and then performed whole exome sequencing to identify the mutated gene. They then examined the patients’ fibroblasts for biochemical consequences of the mutant protein. Results: This study identified 6 NUBPL patients from 5 unrelated families with a similar MRI pattern. Two sisters from Canada were diagnosed with NUBPL from this study. We are now in contact. We can tell from this research that Patient 5 has exact same mutations as our daughter, but we are not in contact with them at this time. To read more: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3662327/

2013: Ambry Genetics was one of the 1st genetic testing laboratories to offer whole exome sequencing diagnostic services for clinicians, including medical interpretation. At the time a family in California has two daughters undiagnosed, ages 13 and 3, with an unknown white matter disorder. Their doctor recommends whole exome sequencing through Ambry and both girls are diagnosed with NUBPL. A few months after Katherine was diagnosed in 2015, I saw their documentary “The Life We Live: The Spooner Story” on the Global Genes Facebook page. Watch the documentary here.

*That same year (August 2013), at the age of two, our daughter has an MRI after a developmental plateau. Based on her MRI alone, top neurologists thought she had a disease called Infantile Neuroaxonal Dystrophy (INAD). Katherine’s MRI was similar to the patients in the 2012 NUBPL Dutch study, but her grey matter is affected. Doctors never suspected or mentioned NUBPL. Whole exome sequencing confirmed NUBPL in February 2015.

2015: Katherine is diagnosed with NUBPL through whole exome sequencing.

2016: We started a non-profit, NUBPL Foundation, to grow the NUBPL patient community, raise awareness, and fund research into the NUBPL gene.

2016-2019: Whole exome sequencing is becoming more common and affordable; however, there are still barriers. To date, all NUBPL patients have ONLY been diagnosed through whole exome sequencing. As far as the research goes to help clinicians diagnose  patients, the 2012 Dutch study, “NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern” is it. We know that Katherine has NUBPL and does not have this “distinct” MRI pattern. As more patients find us from around the world, we believe there may be some other differences that could help clinicians better diagnosis or at least “think” NUBPL as a possibility.

It takes time, awareness, and a larger patient population to see patterns or outliers. The more we talk about it, make noise, and raise awareness as a community (strength and volume in numbers), the better known it becomes to clinicians and researchers around the world.

Personally, I worry about the child getting an MRI today that’s similar to Katherine’s. It’s highly likely the neurologist does not even know about NUBPL because it’s so rare. Depending on the MRI results, there’s a chance they will find that 2012 Dutch research paper, but if the MRI is like Katherine’s, they are likely to keep searching for more common diseases. They may be facing exhaustive testing over the next year or so before whole exome sequencing will give them a definitive diagnosis. There’s also the NUBPL patient with a mild MRI pattern and/or slight developmental delays. These children may also be misdiagnosed.

In the rare disease world, it is our job to make the doctors aware of the disease. As hard as that is believe, that’s the way it flows. The responsibility falls on the parents to find the patients, grow the community, and push for new research (and fund it). It’s hard for a doctor to take on this responsibility unless they make it their sole focus. Realistically, it isn’t feasible for them if they also have a clinical practice. And as a researcher, it doesn’t make much sense to focus all their time on a disease that affects so few patients. If this disease affects a LARGE population? Yes!

For new clinical research to carry weight, you have to have patients, which is one of the biggest challenges with rare diseases. Slowly but surely, patients are getting diagnosed through whole exome sequencing and finding us. If they do not find us, then it’s hard to fit all of these “puzzle pieces” together to see the larger picture. Something most people don’t understand is there’s not a “central” database for doctors to access to find these patients. They really depend on “published” scientific research, and again, it’s our job to find the patients and push this research. Patient registries are helpful. We are getting close to having enough patients for new clinical research and a natural history study of the disease, which is so important for multiple reasons. Again, we have to fund it through our non-profit or find someone who is wants to fund it.

Our job is to be a lighthouse for other NUBPL families. The light has to reach them so everyone can come together on shore, and that light needs to shine bright enough to reach every corner of the world. Some people don’t know to look for a light; others don’t know they are in the NUBPL boat. Some don’t know why it matters or see the benefit of joining a community. As more families join our community, the brighter our light shines around the world. And the brighter we all shine and grow this community, the brighter the light we shine on understanding this disease and helping future patients.  As you may have recognized, the silhouette of the girl in the logo is pointing to something. She is pointing ahead to the light and flying toward it. She is hopeful and optimistic as she flies alone to join her community. Together, they will push the needle of science forward.

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Fate’s Waiting Room

Inside the sterile expanse
Where nameless faces wait,
Sharing a moment in time,
Trapped together for eternity.

The place where agony-filled air
Suffocates their dreams,
As the icy hands of fate
Slowly strangle life to death.

Anxious eyes scan the room
For a savior in white.
Rhythmic moans and stifled cries
Sing the melody of despair.

Squeaky wheels roll forward
With delicacies on a silver tray.
A token consolation prize
For inconsolable souls.

David Faughn 2019 Eagle Rare Life Award Nominee

David Faughn is honored to be nominated for the 2019 Eagle Rare Life Award. As a nominee, he is in the running to win $50,000 for the NUBPL Foundation to help fund a potentially life-saving treatment breakthrough for patients battling mitochondrial complex 1 deficiency disorder, NUBPL gene. To help him win, David needs your vote – just a simple click of a button with no sign-in or information required. One click; that’s it!

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Read David’s full nomination written and submitted by Regan Blevins:

What began as a father’s desperate pursuit of a diagnosis for his daughter’s mysterious disease has evolved into David Faughn’s life-long commitment to pioneering medical research and promoting legislation to ensure medical coverage for affected patients.

David Faughn embodies character. Of the many characteristics encapsulated in the Eagle Rare Life Award, character stands out as all- encompassing. And Dave is truly a living example of each. His relentless devotion to finding a diagnosis and cure for his daughter’s rare genetic disease, NUBPL, named for the mutated gene causing her cerebellar atrophy, is testament to his immeasurable dedication. Indeed, his devotion inspired him to found the nonprofit, NUBPL Foundation, to raise awareness, network with families with similar diagnoses, and fund research. Dave exudes courage in coping with his only child’s diagnosed rare genetic disease of unknown prognosis. While many would resign to grieve this powerlessness, Dave has risen above his own circumstances, battling endless roadblocks by insurance companies and state legislation alike for the sake of his precious Katherine. His fight gave way to lobbying and co-authoring legislation mandating insurance coverage of a particular therapy, “mito cocktail”, rendering his home state of Kentucky the first in the U.S to do so, benefiting hundreds of families affected by some of the hundreds of known mitochondrial mutations effecting disease. Dave is undeniably both leader and hero to families in Kentucky and beyond who are touched by mitochondrial disease. Survival is a word all too close to Dave’s family’s heart. His tireless advocacy will no doubt one day ensure the survival of many.

Dave’s main mission is to save his daughter’s life. When top neurologists were stumped by his little girl Katherine Belle’s unusual brain MRI, Dave asked, “Is there any hope?” Facing the gravest of answers from a baffled medical community, he resolved to fight. He founded NUBPL Foundation, the namesake nonprofit of the mutated gene it supports. Dave’s personal mission has evolved from one with the singular goal of saving his child, to the global mission of his nonprofit: to raise awareness and fund research toward the development of life-saving, life-enhancing treatments and a cure for NUBPL, mitochondrial complex 1 deficiency disorder.

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Dave’s advocacy extends well beyond his own family. He helped hundreds of children in Kentucky suffering from mitochondrial diseases acquire coverage for the only medication known to mitigate their progressive and life-altering symptoms. Children from families forced each month to choose between spending hundreds for their survival or covering rent. When insurance denied coverage for treatment, Dave, a civil litigator, took his fight to the Kentucky General Assembly. In 2016, Kentucky became the first and only state in the union to legislatively require health insurers to cover mito cocktails. Understanding the need for greater awareness, research funding, and patient community support, he and wife co-founded the NUBPL Foundation. Under David’s leadership and devotion to helping families on a similar path, newly diagnosed NUBPL patients, clinicians, and geneticists are finding them and joining a growing global community. David’s efforts ignite hope in NUBPL families around the world.

For all Dave’s admirable qualities, his greatest is undeniably the wonderful father he is. His love for his child transcends to his every action. Perhaps no better illustrated than in his own words:

“Laughter and joy are Katherine’s currency. She spends them freely. I am more alive than I have ever been. I feel more deeply than I’ve ever felt. I see genuine goodness in people around me, in friends, family and complete strangers. People who reach out to lift our spirits and to help us practically and emotionally. I see my daughter in all children and love them for it.”

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In 2017, the NUBPL Foundation partnered with the Children’s Hospital of Philadelphia (CHOP) for their first precision medicine drug discovery and repurposing project with the purpose and hope of delivering a treatment breakthrough for patients. CHOP is a world-renowned leader in groundbreaking pediatric medicine. Douglas Wallace, director of the Center for Mitochondrial and Epigenomic Medicine at CHOP, discovered the first disease-causing mitochondrial gene mutation in a human. Today, an estimated 80,000 Americans are afflicted with mitochondrial disease. While many nuclear genes have been identified to effect mitochondrial disease, the NUBPL gene was recently pinpointed as a critical player in the metastasis of the world’s second-leading cancer killer, colorectal cancer. NUBPL’s role in Parkinson’s disease is yet another identified initiative to better understand the gene. While Katherine’s particular disease is rare, CHOP’s research project undoubtedly has the potential to trigger a far-reaching ripple effect in medical discovery. But medical research is costly. NUBPL Foundation is well over the halfway point in raising the $179,000 needed for this project. $50,000 would nearly get them the funding they need for this critical research.

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Click here to VOTE NOW

Today is Kentucky Gives Day 2018

TODAY is Kentucky Gives Day, an online 24-hour annual fundraising event bringing charities and Kentuckians—near and far—together for a powerful day of action.

Last year, the NUBPL Foundation won 2nd place overall for most funds raised in 24 hours. Impressive! With your donation TODAY, we aim to win 1st place and win an additional $1,500 for research. In case you missed it, here’s an in-depth article from The Pennsylvania Gazette about the critical research you are supporting.

Research dollars are difficult to come by for rare diseases, and your generous donation goes a long way toward helping us meet our goals. NUBPL is a progressive disease with zero FDA approved treatments. Once the brain cells have died, there is no bringing them back.

We are racing against time to save our children. 

As the parents of a six-year old affected by this devastating disease, we cannot thank you enough for supporting our cause and helping keep hope alive for her future. Thank you!

Click here to make your tax-deductible donation. 

The Pennsylvania Gazette #Hope4KB Cover Story

A special thank you to The Pennsylvania Gazette for the feature cover story about how our family’s journey through the realm of rare disease led us to the newest frontier of precision genetic medicine at the Children’s Hospital of Philadelphia.

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#GivingTuesday

Today, Tuesday, November 28, 2017, is #GivingTuesday, a global day of giving fueled by the power of social media and collaboration. Celebrated on the Tuesday following Thanksgiving (in the U.S.) and the widely recognized shopping events Black Friday and Cyber Monday, #GivingTuesday kicks off the charitable season, when many focus on their holiday and end-of-year giving.

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NUBPL.org

We need your support

We want to take a moment to give you an update on Katherine Belle.

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Katherine Belle, age 6

You can see from the photos that she’s happy and growing. She’s loving first grade and changing so fast (as is typical at this age). Although she did not have a third MRI, her latest round of testing this fall was mostly “normal,” which is what every parent wants to hear. The only thing that was slightly abnormal was a mild curvature of her spine (neuromuscular scoliosis) – something that is common with disorders of the brain. At this time, all organs other than her brain remain unaffected. This is indeed a blessing.

She continues on the clinical trial drug EPI-743 and her “Mito Cocktail,” both of which have been very helpful for her. She is growing stronger and walking more and more. She is mostly walking upright around our house – still holding on to surfaces the majority of the time, but taking more independent steps in between. It’s amazing to watch this process as her brain rewires itself, opens new pathways, and creates muscle memory. At this point, we can see how the repetition is building on itself and beginning to accelerate.

This experience is hard in many ways because nobody wants to watch their child struggle, but at the same time it’s mind-blowing to watch the process of how the human brain has the ability to reorganize itself when pushed by a resilient human spirit. It’s incredible. Again, this is a blessing.

We don’t want her to fight this alone. We know enough about this disease to know that even the toughest fighters cannot beat a failing human body. She needs our help.

When we first started on this rare disease journey, I recall feeling like we were stuck in the past, medically speaking. Nobody knew what was wrong with our child, let alone how to treat her. Science was on our side for getting a fairly quick diagnosis through whole exome sequencing. We continue to exhaust all possible avenues to help her as quickly as possible, from a clinical trial, to vitamins and supplements, best therapies, educational environment, and now research.

On the days when the fight seems too hard and the fundraising has slowed to a halt, the sound of a ticking clock fills our heads. This part is the hardest of all for us as her parents – wanting to do everything we can to help our daughter while being constrained by a short timeframe to stop the disease progression. It’s easy to look at a smiling, happy, healthy looking photograph of a vibrant six-year old and not think about her future. As her parents, though, it’s all we think about.

Timing is critical. Science was on our side for getting a NUBPL diagnosis; now we hope we can push science to discover a treatment she needs NOW to increase her odds of not regressing cognitively and physically. It’s been 55 years since this first patient was diagnosed with mitochondrial disease and there’s still no FDA approved treatment to help patients like Katherine. We say the time is now and we will do everything in our power to advance the needle of research.

It’s like knowing in advance that your child is going to die in a car crash and having the opportunity to stop them from getting in the car that day. Just as we watch Katherine slowly rewire her brain to overcome her physical obstacles, she inspires us to keep pushing for a treatment that will hopefully come sooner rather than later.

There’s an upcoming article coming out soon that will go more in-depth about the research we’re funding, but we want to tell you a little here today. Researchers at the Children’s Hospital of Philadelphia are using cutting-edge Crispr technology to study zebrafish with Katherine’s NUBPL mutations to learn about the natural history of the disease and test currently available therapies.

Donations made today on #GivingTuesday will help us fund this critical research.

There are two places you can make a donation today to support the NUBPL Foundation:

1) Facebook

2) Children’s Hospital of Philadelphia (Hope for Katherine Belle Mitochondrial Disease Research Fund)

Also, please consider voting for Katherine’s #GivingStory here. Entries with the most votes are eligible to win up to $10,000.

Thank you very much for your consideration.

Sincerely,

Dave & Glenda

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Mitochondrial Disease Awareness Week 2017

Every single day is mitochondrial disease awareness day for our family, but it just so happens that global mitochondrial disease awareness is celebrated annually during the third week of September. This year, Mitochondrial Disease Awareness Week is September 17-23.

Every year for the last four, we’ve tried to do something a little more to help spread awareness throughout our community and beyond by requesting Kentucky’s Governor to issue a Mitochondrial Disease Awareness Week proclamation, writing this article for The Mighty Publication, What is Mitochondrial Disease? An Explanation for Non-Scientists, selling t-shirts with our recognizable #Hope4KB hashtag, and sharing #Hope4KB photos people send us from around the globe.

Screen Shot 2017-09-01 at 10.22.43 AMThis year, Dave has been invited by the United Mitochondrial Disease Foundation (UMDF) to lead a webinar called “Advocating In Your State,” during which he’ll provide helpful insight into how we passed the Kentucky ‘Mito Cocktail’ law as well as ways to help others try the same in their own state. This webinar is scheduled for September 20, 2017, during Mitochondrial Disease Awareness Week. Interested participants can register with the UMDF here.

Some of you may have noticed that Katherine’s therapy trike riding video is becoming a big hit on the Internet. Please send us any links or videos of it being shared. Every time it’s shared and the words ‘mitochondrial disease’ are mentioned, she is spreading more awareness.

Here are a few links we’ve seen so far:

Right This Minute (Viral video show)

Nieuwsblad (Belgian newspaper)

We will be sharing more awareness resources over on our Facebook page Hope for Katherine Belle this month, so look for our posts to read and share.

Ways To Help Us Raise Awareness

1. Share Katherine’s Facebook page, Hope for Katherine Belle.

2. Share the link to our non-profit (NUBPL Foundation) Facebook page, NUBPL.org.

3. Send us your #Hope4KB photos by posting them to Katherine’s Facebook page. We really want to see YOU and love adding these photos to our ever growing album. Green is the color for the mitochondrial disease awareness ribbon. This is a FREE and fun way to bring awareness to mitochondrial disease and #Hope4KB, so make a sign, snap a photo, and share it with us. And ask friends to consider doing the same. We spread awareness by talking about it with others – tell people about Katherine and her story so you can help put a real face to this horrible disease.

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Arabella, Making Memories for Arabella
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Alex and Blue, Alex and Blue Fighting Mito Together

4. Add a Mitochondrial Disease Awareness photo frame to your Facebook profile picture to let everyone know about it being awareness week. Here’s an example of one we used, which you can get by clicking here:

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5. Make a tax-deductible donation to support mitochondrial disease research and fund treatments/cures (there are currently ZERO FDA approved treatments for Mitochondrial Disease): Katherine Belle Mitochondrial Disease Research Fund at the Children’s Hospital of Philadelphia.

6. Katherine has made it on the EllenNation website (The Ellen Degeneres Show). Register, vote, comment, and share (NOTE: You can only vote once overall – voting more than once will result in a negative vote). Click here to vote for Katherine Belle and raise awareness for mitochondrial disease.

7. Share this blog post with your friends and family.

The Liebster Award

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We are excited to share with you that our blog, Hope for Katherine Belle, has been nominated for the Liebster Award, an award created to give recognition to new bloggers. 

We would like to thank Modified Mamas for your support and for nominating us for this fantastic award.

Here’s how the process works: Bloggers are nominated by their peers. Once they are nominated, they look for blogs that speak to them and have less than 200 readers per month, and then they nominate those bloggers – paying it forward.

Upon nomination, The Liebster Award Nominees are asked to answer 10 questions.

Here are the 10 questions Brandy and Nicole at Modified Mamas asked us:

Q: What made you decide to start a blog?
A: When we received the soul-crushing news that our then two-year old daughter, Katherine Belle, had a progressive, neurodegenerative disease in 2013, we were utterly devastated. We needed an outlet to express what we were feeling, but also on a practical level, we needed a way to give community updates to friends and family at once so we didn’t have to keep repeating very complicated, painful information. 

Q: What is the number one way you market your blog?
A: Over time, our blog has become more than just a place for community updates, although that is still very much an important component. As we’ve moved through our rare disease journey, this blog provides a way to get our story out into the world to help us find other patients like our daughter, which is especially important now that we founded a non-profit to research her mitochondrial disease and grow the patient population. The number one way we market our blog is through a companion Facebook page, Hope for Katherine Belle

Q: Where do you see your blog in 5 years?
A: We see this blog as an ever-evolving public journal of our rare disease journey. When we started blogging, we sat down together and discussed what this blog meant to us. Given the grim odds our daughter faces, coupled with our immense grief over learning that she’s slowly dying from a rare mitochondrial disease, we understood that our family had a long, rough road ahead. In the beginning, we were told there was no hope for Katherine. Together, we decided to reject this opinion – both medically and spiritually – because we believe there’s always hope. Excerpts from our first blog posts established the tone of our blog (and journey):

Dave:

But this is not a blog about hopelessness. Far from it.  It is a blog about hope. It is about faith.  Above all, it is about love. While we have faced many hard days in the wake of this news — and will face more in the days to come — we have also felt and seen the redeeming power of hope, have been buoyed by the love given us by family, friends and complete strangers and have been astounded by the ability of faith to change things for the better, whether it is faith in a benevolent God, faith in each other or faith in a miraculous child.

Glenda:

Each day I share my photographs with friends and family and tell them a story that does not always require words, and that sometimes cannot be expressed with them. It is a story of faith, hope, love, and determination.  As we continue ahead on our journey toward a diagnosis, I see a brave and thriving girl who is progressing, not regressing.  I see a happy and joyful child who meets every obstacle or challenge with the biggest smile and the most positive attitude. I see a future with many more photographs of accomplishments, milestones, and laughter. In all of my pictures, I see faith, hope and love.  Above all, I see an abundance of love.

Three years later and we still feel the same way. Where do we see this blog in five years? Ideally, in five years (even sooner) we hope we’re sharing groundbreaking research about cures/treatments for mitochondrial disease, along with photos of a happy and thriving 11-year-old Katherine Belle. We hope that people will understand that when we received devastating news in 2013 that we didn’t just sit down and hope for the best; instead, we stood up and looked mitochondrial disease squarely in the eyes and fought with everything we had – we pushed for a diagnosis, treatments, and cures, and advocated for our child every single day. Our greatest hope is that five years from now our hopes and hard work to fund treatments and cures will be a reality, not just for our own child, but for all those affected by mitochondrial disease.

Q: What do you do in your downtime/do you have a hobby other than blogging?
A: In our downtime we run a non-profit, the NUBPL Foundation, to raise awareness and fund research to cure mitochondrial disease. We try our best to carve out time for self-care (so very important!), which usually involves reading, biking, gardening, and home projects. 

Q: What one piece of advice would you give other new bloggers?
A: Keep writing and searching for your authentic voice and purpose. 

Q: What is your favorite book?
A: Angle of Repose (Glenda); I, Claudius (Dave)

Q: Do you have a phrase (or code) you live by?
A: “It is not the critic who counts; not the man who points out how the strong man stumbles, or where the doer of deeds could have done them better. The credit belongs to the man who is actually in the arena, whose face is marred by dust and sweat and blood; who strives valiantly; who errs, who comes short again and again, because there is no effort without error and shortcoming; but who does actually strive to do the deeds; who knows great enthusiasms, the great devotions; who spends himself in a worthy cause; who at the best knows in the end the triumph of high achievement, and who at the worst, if he fails, at least fails while daring greatly, so that his place shall never be with those cold and timid souls who neither know victory nor defeat.” (Glenda)

“Don’t let the perfect be the enemy of the good.” (Dave)

Q: What is your favorite drink?
A: Coffee (Glenda), Diet Coke (Dave)

Q: What gets you out of bed in the morning?
A: During the week our iPhone alarm clock. On the weekends, a chipper six-year old saying “Rise and shine!”

Q: What is the last thing you do at night before you close your eyes?
A: Kiss one another and say goodnight.

Now it’s our turn to nominate some fellow bloggers.

Our 6 nominees for the Liebster Award 2017:

Upon accepting this nomination, it becomes your turn to write your Liebster Award 2017 acceptance and nominate some fellow deserving blogs. In your post you’ll need to follow these Liebster Award rules:

  • Thank the blogger who nominated you for the Liebster Award (www.hopeforkatherinebelle.com)
  • Link back to the blogger who awarded you – that would be us – www.hopeforkatherinebelle.com 
  • Upload the award to your blog. It can be done as a blog or on the sidebar.
  • Answer the questions you have been asked. (see below)
  • Nominate 5 blogs with followers less than 200 that you believe deserve to receive the award. If you feel others deserve the award, then you are welcome to nominate more.
  • Notify the nominated bloggers so that they can accept the award. Bloggers can be nominated more than once, giving their readers more chances to learn more about them.

Our Questions for Our Nominees Are:

  1. Can you tell readers about yourself and your blog?
  2. Something surprising you’ve learned from starting your own blog?
  3. Do you have periods when you want to abandon your blog, and if so, what brings you back?
  4. Where would you go if you could travel anywhere in the world?
  5. Do you have a blogging mentor?
  6. What was your proudest achievement (life in general)?
  7. What is your favorite quote?
  8. What do you think your blog says about you?
  9. Where do you see your blog in five years?
  10. How do you relieve stress and unwind?

We are inspired by each of you and look forward to your responses!

xo,

Glenda & Dave

Katherine Belle Walking, Age 6

Here’s a short video of Katherine’s walking progress since March 2017. We will keep you updated with any future progress. As for a medical update, she started the extension phase of the EPI-743 clinical trial in February 2017. She’s scheduled for another MRI in October to find out if the atrophy of her cerebellum continues to worsen. Your prayers are appreciated.

 

 

2017 Bi-Annual Report

For the past few years we have given an annual update in December, but so much has happened in the last few months that we want to share with you today.

Many of you have been on this journey with us since the very beginning when we started this blog in January 2014 after learning that Katherine had a rare disease that affected her cerebellum. In those early days, this blog was an outlet for our immense grief after being told by two doctors that our daughter had a quickly fatal disease.

It is soul-crushing.

Slowly, we made our way to research, awareness, advocacy, and thankfully, in February 2015, an accurate diagnosis of Mitochondrial Complex 1 Deficiency (NUBPL gene).

The only word we’ve found that best describes the last four years is journey. On this journey, we have learned that adaptability to change is key to moving forward. I am proud of what we’ve learned and accomplished amidst very difficult circumstances. I am also thankful for each of you who’ve followed along and continue to cheer for our daughter while lifting us up on our darkest days. You are an integral part of our story.

From the beginning, we knew that we needed to be Katherine’s voice in order to give her hope for the future. Isn’t that what we all want for our children? Sometimes that means something more or different depending on the circumstances. In our case, the task at hand – our greatest hope of all – is to give our child a treatment and cure for a disease that threatens to take her life sooner than any parent should have to imagine.

If someone is threatening to kill your child, most parents wouldn’t ignore the threat. I believe that most would try to prevent it – to go above and beyond to protect the life and well-being of their child. Mitochondrial Disease is threatening our daughter’s life and we have to stop it. We are on a mission to find a treatment and cure.

2017 Bi-Annual Report

1. Founded the NUBPL Foundation, Inc. to raise awareness and funding for Mitochondrial Complex 1 Deficiency (NUBPL gene).
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2) In February we had our first fundraiser, Rare Bourbon for Rare Disease. The event grossed $32,000. There is a nice write-up about the event here: The Spirit of Giving, Paducah Life Magazine
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3) Traveled to California to meet another NUBPL family (The Spooner Family) at UC-Irvine – first time two NUBPL families have ever met. We met with Dr. Virginia Kimonos and other mitochondrial disease researchers at UC-Irvine and toured their lab.
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4) I continue to write advocacy articles for The Mighty Publication and we hope to participate in a legislative advocacy webinar in the coming months to help others advocate for Mitochondrial Disease legislation. My latest article for The Mighty is here.

5) We are growing our NUBPL community and are now in contact with another family in Canada and will meet another one in two weeks – the first non-sibling match to our daughter in the world. The more families we can connect with, the more we can learn from one another and fundraise for treatments together.
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6) In April we participated in 2017 Kentucky Gives Day and received the second highest donations in the state, netting $10,565 (and receiving $1,000 for second place).
KY-gives-day-logo7) Katherine entered the extension phase of the EPI-743 trial and continues on the drug today. We made several trips to the NIH and presented our journey to attending NIH physicians.
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8) In June we with researchers at the Mitochondrial-Genetic Disease Clinic at the Children’s Hospital of Philadelphia (CHOP) and toured their laboratory.
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At this point on our journey, we are tackling the daunting challenge of major fundraising. Ideally, we would like to fund all NUBPL research, but at this point we feel the best approach is to research the natural history of NUBPL and to do so as quickly as possible so that a therapy can be determined to help Katherine.

In addition to our NUBPL Foundation GiveGab fundraising platform, we have established the Hope for Katherine Belle Mitochondrial Disease Research Fund at the Children’s Hospital of Philadelphia (CHOP) to immediately begin researching the natural history of the disease through various animal models.

Every donation matters and is greatly appreciated. Every donation is tax-deductible. Every donation advances critical mitochondrial disease research that will help not just Katherine but countless others. The approach being used will test many strategies that are hoped to be used for other mitochondrial diseases. The natural history studies are necessary to set a baseline against which they can measure the efficacy of the therapies, which show promise across mitochondrial diseases.

We whole-heartedly believe in this research and will keep moving forward to give Katherine and others affected by this disease the best chance at life. We hope you will continue to walk with us as we venture into this critical aspect of our journey. We’ve come so far in four short years;  I truly believe that, together, we can fund a treatment.

Please consider making a tax-deductible donation today to the Hope for Katherine Belle Mitochondrial Disease Research Fund.

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Kentucky Gives Day 2017: Support NUBPL Foundation

“Never doubt that a small group of thoughtful, committed citizens can change the world. Indeed, it is the only thing that ever has.”
Margaret Mead

In 2015, our (now) 5-year old daughter, Katherine Belle, was diagnosed with an extremely rare Mitochondrial Complex 1 disease caused by mutations in the NUBPL gene.

The harsh reality is we have a vibrant and amazing five-year old daughter who fights daily with everything she has, but because NUBPL is a recently discovered disease without any available treatments, we do not know what the future holds in terms of her health and disease progression.

As tireless advocates for our daughter, we decided to do more. We founded the NUBPL Foundation to fund research for NUBPL, which causes progressive atrophy in our daughter’s cerebellum, as well as speech and developmental delays.

Katherine is just one of 11 patients in the WORLD identified in scientific research, although we believe the number of confirmed NUBPL patients is likely closer to between 25 to 50. All patients have been diagnosed through Whole Exome Sequencing (WES), and we have no doubt that the NUBPL patient population will continue to increase as more families use WES to diagnosis their children. We have been very public about our story so that we can help clinicians and families better diagnose NUBPL in the future.

Because orphan diseases are rare, they lack support groups and national organizations. And, 95% of rare diseases do not have any FDA approved treatments, including NUBPL. Orphan diseases don’t attract as many research dollars because few people are affected, and for pharmaceutical companies, there’s less incentive to fund the research for a treatment that will not produce a good return on their investment.

Our daughter and other affected children deserve better.

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We have carefully listened to proposals from top researchers from around the country and have decided to fund the promising research of Dr. Marni Falk at the University of Pennsylvania. The Mitochondrial-Genetic Disease Clinic at Children’s Hospital of Philadelphia (CHOP) is one of the top research centers in the nation for Mitochondrial related diseases. This research gives us hope that therapies will soon be developed to help treat the mitochondrial dysfunction of Katherine and other NUBPL patients.

100% of your tax-deductible donation will directly fund the research of Dr. Marni Falk and her team at CHOP to research the NUBPL gene and to develop life-enhancing treatments for the mitochondrial dysfunction of Katherine and other NUBPL patients. 

Our matching gift pool from our Double The Hope partners will match every donation – DOLLAR FOR DOLLAR – we receive from you on April 18, 2017, to ensure we reach our $25,000 goal.

Click on the picture to donate to the NUBPL Foundation:

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Two NUBPL Families Meet For First Time, 2,000 miles apart

A little over two years ago, we received Katherine’s results for Whole Exome Sequencing (WES), giving us a name, NUBPL, to the disease that was a mystery to her doctors and is responsible for the atrophy of her cerebellum. Although we finally knew the name of the mutated gene, and that it was considered a rare form of Mitochondrial Complex 1 Deficiency, we didn’t know much more than that. In fact, at the time we quickly learned that her disease was recently discovered.

Although we were elated to receive a diagnosis, we realized that we didn’t know how the disease would affect Katherine’s life. Her doctor had never seen another patient with NUBPL, so he didn’t have much to tell us in terms of disease progression.

We searched the Internet looking for any information we could find, which included a couple of scientific articles citing six patients from 5 unrelated families. From these articles, we learned more about the patients, including sex, age, country of origin, clinical signs, MRI details, when and if they walked independently, and cognitive function. We had no way of contacting any of these families without knowing their names or doctors. We didn’t even have a photograph.

I felt like a detective scouring the Internet hoping to find a clue. I started tagging everything we shared with “NUBPL” and searched the Internet several times a day for a signal from anyone out there who had this disease. I posted in Facebook groups and wrote blog posts, anything I could think of that might put us in contact with another family with this same disease.

Just a few weeks later, I was looking through posts on the Global Genes Facebook page when I noticed a post from a mom sharing a link to a documentary about their 14-year journey to a diagnosis for both her daughters who were diagnosed with NUBPL. As I watched the documentary, tears rolled down my face as I picked up the phone to call Dave to tell him I’d found another family. And that they looked happy and one was walking independently. After living with a misdiagnosis for nearly two years of a quickly fatal disease, I’ll never forget the moment that I saw the smiling face of a 16-year old girl with same disease as Katherine.

Everything is about perspective in this life. After being told that my child was going to die by the age of seven, that first glimpse at Cali Spooner’s face added  years to my child’s life. In her photograph I saw Katherine smiling back at the camera. For the first time, I saw Katherine as a teenager.

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And then I saw Ryaan Spooner’s face and recognized my Katherine in her as well. And she could walk independently. Their body types were even similar.

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The Spooner Family

I got off the phone with Dave and contacted their mom, Cristy, who responded immediately and we’ve been in contact ever since. She put us in touch with their doctor at UC-Irvine, Dr. Virginia Kimonis, who was growing fibroblasts to learn more about the disease. We contacted Dr. Kimonis and sent Katherine’s skin biopsy for research.

Last week, our family traveled to California to attend the first NUBPL Family Conference at UC-Irvine and to spend time with the Spooner Family.

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We heard from several researchers and toured the lab where they have been growing our daughter’s fibroblasts.

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And a few days later, we were able to introduce our girls to one another for the very first time.

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Both of our families instantly hit it off as we watched our girls play together. We were all sad that the night had to end and we had to go back to living on opposite coasts.

Katherine and Ryaan share a love of dolls and both are fiercely determined and independent. They are very similar in many ways. Katherine watched Ryaan walk independently, which she learned to do at Katherine’s age (they are two years apart). After seeing Ryaan walking, Katherine is now determined more than ever that she’s going to do the same. And I know she will.

Our girls are three of 11 NUBPL patients identified in the world. After spending time with The Spooner Family, I am reassured more than ever that we will find more NUBPL families in the future. These things take time and we are just getting started.

We are two families brought together through science, hope, love, and a fierce determination to give our girls the best chance possible at life. Where science hasn’t caught up, we will fund the research ourselves through our non-profits. Where there are barriers to diagnosing more patients in the future, we will spend our time to eliminate those barriers. And when we cannot find those patients as they are diagnosed, we will do everything we can to make sure they can find us.

As our families were spending time together in California, a mom with two daughters made contact with both of us. Yes, I am hopeful that we will grow our NUBPL community.

1st NUBPL Foundation Fundraiser

Last year we founded the NUBPL Foundation to elevate NUBPL awareness and research. In February 2015, our daughter was diagnosed with a recently discovered form of Mitochondrial disease named after the affected nuclear gene, nucleotide-binding protein-like (NUBPL). As one of 11 identified patients in the world, research is needed to understand more about this disease.

This is an exciting time for our family as we expand our rare disease journey to grow NUBPL’s patient population and fund research and, hopefully, develop a treatment or cures.

We had our first fundraiser at the Haymarket Whiskey Bar in Louisville, Kentucky, on February 25, 2017. Our foundation was selected as one of 200 charities to receive a bottle of Buffalo Trace O.F.C. Vintage Collection, an estimated value of $10,000 per bottle.

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Coordinated by Dave’s cousin, Brian Shemwell, founder and president of the Paducah Bourbon Society, Haymarket Whiskey Bar, Masonic Homes of Kentucky (event food sponsor), and five regional bourbon societies – Louisville, Paducah, Owensboro and Lexington Bourbon Societies and JB’s Whiskey House of Nashville – came together under one umbrella to support our cause, raising a total of $32,000 in ONE night for the NUBPL Foundation from rare bourbon tastings and silent auction items.

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Dave and I were blown away by the level of support we received from event sponsors and attendees. As Dave concluded his speech about our rare disease journey and the NUBPL Foundation, he concluded with these words:

“Whiskey is a Celtic word meaning ‘water of life’ and it’s never been more fitting than this moment. Tonight we raise our glasses of whiskey to save a life. To life.”

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Rare Bourbon for Rare Disease Fundraiser

NUBPL is a form of Mitochondrial Complex 1 Disorder. Discovered just a few years ago that mutations of this gene are disease causing (our five year old daughter has two mutated copies of her NUBPL gene – one mutated copy from mom, one mutated copy from dad), our family wants to know more so our daughter can have treatments and/or a cure.

The bottom line is that we need to fund the research. Researchers need money to study diseases. We founded our very own non-profit, NUBPL Foundation, to do just that. NUBPL Foundation is an all-volunteer (we do all of the work ourselves and for FREE!) non-profit with the mission to elevate NUBPL research and awareness. Simply put, we are raising money to fund research and find other patients with this disease.

We are starting at ground zero with this research. The good news is there are scientists and physicians who want to perform this research, but they need money. For starters, we need to raise $50,000 to purchase a mouse. There has already been NUBPL research performed on plants, but now we need to see what happens when a mouse has NUBPL. There is much to learn from a NUBPL mouse. What is learned from the mouse will determine what comes next.

Rare Bourbon for Rare Disease is our first NUBPL Foundation fundraiser on Saturday, February 25, 2017, at Haymarket Whiskey Bar in Louisville, Kentucky.

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This is your opportunity to taste bourbon from a bygone era – a 1982 O.F.C. vintage-dated bourbon – and fund rare disease research at the same time. Only 50 bottles of this very rare bourbon were ever bottled, placing each bottle’s worth at $10,000. Buffalo Trace released all 50 in 2016 to charities for fundraising. One recipient was The NUBPL Foundation. (For more information, click here.)

The NUBPL Foundation, Inc., is a 501c (3) corporation, funding research for a very rare Mitochondrial disease caused by mutations in the NUBPL gene. This disease causes progressive atrophy of the cerebellum in affected children, among other dire complications, and mutations of the NUBPL gene have also been linked to Parkinson’s disease. The hope is that further research will lead to life-enhancing, life-saving treatments for both NUBPL and Parkinson’s patients.

Be a part of bourbon history while supporting an important cause. Join the NUBPL Foundation and 5 Bourbon Societies – Paducah Bourbon Society, Owensboro Bourbon Society, Lexington Bourbon Society, The Bourbon Society, and JB’s Whiskey House of Nashville – at the legendary Haymarket in Louisville. All ticket holders will enjoy light appetizers provided by our event food sponsor Masonic Homes of Kentucky, Inc.

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There will be three tiers of entry:

Tier 1 – $250 Donation: (Quantity available: 50)
-1 Flight of 4 Rare Bourbons, including OFC Vintage 1982, 20 Year Pappy Van Winkle distilled by Stitzel Weller, a 20 year Willett Family Reserve (barrel C43A), and a 1971 Old Grand Dad.
-1 Bottle of a Special Knob Creek Single Barrel Private Selection

Tier 2 – $100 Donation: (Quantity available: 50)
-1 Flight of 3 Rare Bourbons, including AH Hirsch 16 year, a 21 Year Old Willett Family Estate (barrel 3936, Liquor Barn Holiday Selection), and a 1970s Ancient Ancient Age.
-1 Bottle of a Special Knob Creek Single Barrel Private Selection

Tier 3 – $50 Entry Donation: (Quantity available: 100)
-1 Bottle of a Special Knob Creek Single Barrel Private Selection

Fred Noe, Master Distiller and 7th generation Jim Beam family member, will attend the event from 7-8:30 to sign bottles of the Knob Creek.

This event will also include a Silent Auction, featuring E.H. Taylor Sour Mash, E.H. Taylor Tornado, 2012 Angels Envy Cask Strength, and multiple years of Pappy Van Winkle.

Other items, available via an on-site raffle or live auction, will include gift baskets from Jim Beam, Sazerac, and Four Roses, special bottles of Private Selections from participating bourbon groups, and other donations from bourbon groups.

Tickets are limited.

To purchase your tickets, click here.

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You may also mail donations:

NUBPL Foundation
230 Lancaster Avenue
Richmond, KY 40475

Rare Disease Day 2017

When Katherine was first (mis)diagnosed with a rare disease in 2013, not only was I utterly devastated by the news that she had a progressive disease, but I was also shocked beyond reason by the realization that such a disease even existed in the first place.

That moment was life and reality altering. In fact, I remember very little from that day, except asking my husband over and over to repeat the name of the disease the doctor suspected. He would say it and I would forget it a second later. How did a disease so horrible exist in this world that nobody ever talked about? Why was the name so foreign that I couldn’t even remember it for more than a second? Shouldn’t everybody be alerted about this vicious disease? Why? How? Is this really happening?

Of course, I was in shock, and would later become very much acquainted with the disease threatening to kill my daughter.  And a few years later, after Whole Exome Sequencing, I would become familiar with another rare disease, a newly discovered one, so new in fact that it is simply referred to by its gene name, NUBPL.

The first time, though, in the most startling way, I awoke in a different world – a world where I began to question what else I didn’t know or may have overlooked in my 36 years of life? Outside I heard the familiar sounds of cars and birds, but for me, in the early morning light, I found myself living in a world much altered and unfamiliar. Even the colors I’d viewed my entire life were muted and different to my eye.

I’m fairly certain that a part of me died with the news and shock of my child’s rare disease diagnosis; however, something else happened in that moment: An advocate was born.

Professionally, as a political appointee, I met many advocates and even organized advocacy training sessions. Selected advocates shared stories of best practices to replicate. The stories were inspiring and aspirational, and in many ways, there are teachable aspects of advocacy work. Regardless of the story or cause, one defining characteristic was common throughout: They never gave up.

Each year I would see the same faces in the halls of our state Capitol building – glimpses of weary faces at the end of a long legislative session. You could see the defeat in their eyes and the figurative scars of battle – hanging heads, slower steps, sometimes tears. But the next year, they would come back for another round, always hopeful this would be the year they succeeded.

Sometimes they did; mostly they did not. I admired them and their dedication, although admittedly, I did not understand how they did it. Not until the day the advocate inside me was born. It was unplanned and shocking, but there was no stopping it even if I tried.

For starters, explaining to family and friends that my baby was dying of something they’d never heard of was my first role as a rare disease parent advocate. I found my voice as a writer to communicate my feelings and explain her disease; when words fail me, I depend on my camera to tell a story that doesn’t always require words or sometimes can’t be expressed with them.

Much has changed for me since the day I “discovered” the world of rare disease. At this point on my journey, I have the benefit of hindsight and perspective, both of which are very useful tools in life.

In the very beginning, after the shock wore off and I came to terms with my world turning upside down, I felt that I had an important role to play in educating people about rare diseases. Why? If I didn’t know they existed, then I figured others out there didn’t know about them either. And, beyond the basic starting point of awareness, from there the path leads to understanding, and from there, hopefully, to discovery.

Statistically, one in every ten people will suffer from a “rare” disease at some point during his or her life. As I sit and write this to you today, you or a family member may have a rare disease you’ve never heard of or has yet to be discovered.

The National Institute of Health defines a “rare disease” as one that affects fewer than 200,000 people in the United States. This definition of a rare disease was included by Congress in the Orphan Drug Act of 1983. There are approximately 7,000 diseases or disorders that qualify for this designation. Because of the Congressional Orphan Drug Act of 1983, the term “orphan disease” is often used interchangeably with “rare disease.”

Anyone who suffers from an Orphan Disease or, in my case, has a child who suffers from one, can understand the harsh poetry of that term.

Perhaps because I have been very open and vocal about my daughter’s rare disease, I feel as though much has changed in the last three years in terms of awareness. I have met so many amazing parent/patient advocates, born out of necessity, who’ve filled the ears of their friends, family, neighbors, communities, and legislatures with stories about rare diseases.

In the early days as an parent advocate, I was overwhelmed in every sense of the word – emotionally, physically, financially, spiritually – as I grappled with the day-to-day of my daughter’s disease. At times, the grief felt heavier than a human should endure, with a learning curve that seemed beyond my grasp and understanding.

I now recognize my own face amongst those advocates I once couldn’t fully comprehend. I have watched other rare disease advocates find their voices, walk the hallways of their own state (and national) Capitol building, and educate themselves beyond their training. On the flip side, I have met parents who don’t want to talk about it publicly for reasons of their own, which I can respect. Not everybody is an advocate and that’s okay. Advocates advocate for people who can’t or won’t do it for themselves.

For me, Rare Disease Day is every single day of the year. I tell everyone our story. I am not ashamed of my child’s disease. This is the life we have and there is much joy to be found in difficult circumstances. This is our one shot at life – life is not the same for all of us, but an end is inevitable for everyone. I choose to live in the light and enjoy the days as they are given to us.

My hope on this Rare Disease Day, February 28, 2017, is that if you are a person who is afraid to tell your story, or plan an event, or speak with a legislator, that you use this day to try something new. Maybe that means telling just one person your story. Whatever form, use this day to live in the light, share your story through your tears, educate your neighbor or community about something new to them, and above all, know that your voice matters. You never know when or how you can make a positive difference in somebody’s life.

2016: A Year in Review

Hands down, 2016 has been our best year since our family was thrust into the world of rare disease.

Unlike previous years, we entered 2016 with an accurate diagnosis, enrollment in a clinical trial, therapies tailored for Katherine’s specific needs, and a new home with a layout better suited for Katherine’s physical challenges.

After enduring several years of emotional setbacks, uncertainty, and seemingly endless financial strain, 2016 brought much needed stability and a renewed sense of hope and vision for the future.

Katherine’s Year

  • She finished her first year of school (pre-K) at Model Laboratory School in Richmond and is currently in Kindergarten, where she has made many friends and loves her teachers and therapists. She says she wants to be a teacher, a doctor, a mommy, and an ice cream maker. Her favorite activities are P.E. and Library. She has an IEP, is fully integrated, and, with assistance, does EVERYTHING the same as her peers. They are her biggest cheerleaders. Katherine turned five in July. She is able to write her name with little or no assistance.
  • Therapies: Aqua, Hippo (Equine), Geo (walking machine), Occupational & Physical, Speech, and Vision. Additionally, Katherine completed swim lessons this summer and is currently enrolled in an adaptive dance class. She has at least one form of therapy every single day.
  • She completed the EPI-743 clinical trial for Metabolism or Mitochondrial Disorders. As a part of the trial, Katherine was monitored very closely – monthly blood work at home and/or at the National Institutes of Health (NIH) –  to look for changes in her body while she was on EPI-743/placebo.
    What is EPI-743?
    EPI-743 is a small molecule drug that is currently in clinical trials in the United States and Europe. EPI-743 was recently granted orphan drug designation by the FDA to treat patients who are seriously ill and have inherited mitochondrial respiratory chain disorders. EPI-743 works by improving the regulation of cellular energy metabolism by targeting an enzyme NADPH quinone oxidoreductase 1 (NQO1). In a nutshell, EPI-743 is the closest thing to hope available (through clinical trial) in treatment form. Mitochondrial dysfunction is linked to many neurological diseases such as Parkinson’s, Alzheimer’s, ALS, and other diseases like diabetes and some cancers, so this research is important for so many.
  • Katherine participated in a second NIH study about immunizations for patients with metabolic disorders.
  • She also is on a compounded medication commonly called a “mitochondrial cocktail” that supplements one of the chemical products of Complex I, being a substance called Ubiquinol, a form of CoQ10.

Legislative Advocacy
Dave and I grew increasingly frustrated that while Kentucky law mandated coverage for the “Mitochondrial cocktail,” private insurers continued to deny coverage month after month.

In April 2016, we decided it was time to advocate on behalf of all Kentucky Mitochondrial disease patients by working with Representative Rita Smart and Senator Ralph Alvarado to include a floor amendment in Senate Bill 18 to specify that Mitochondrial disease is an inborn error of metabolism or genetics to be treated by products defined as “therapeutic food, formulas, and supplements” and that health benefit plans that provide prescription drug coverage shall include in that coverage therapeutic food, formulas, supplements, and low-protein modified food products for the treatment of mitochondrial disease.

Kentucky is the first state in the nation to mandate that private insurance companies cover the vitamins and supplements prescribed by a physician for a “Mito Cocktail.” The new law goes into effect on January 1, 2017.

Awareness

In March 2016, I became a contributing writer for The Mighty to increase my rare disease awareness reach. Below are links to my published articles:

Mitochondrial Disease Explained for Non-Scientists

How To Become A Legislative Advocate For Your Child

10 Practical Tips for Parents Feeling the Shock of a Rare Disease Diagnosis

Three Things I Want To Tell The Mom Receiving a Rare Diagnosis

Learning To Live In The Present With My Daughter With a Rare Disease

Non-Profit Status/Fundraising

In November 2016, we founded the NUBPL Foundation with the mission to fund NUBPL research, awareness, and support.

We are honored to be selected as 1 of 50 non-profits to receive a very rare bottle of O.F.C. Vintages (1982) bourbon from Buffalo Trace for our very first fundraiser (February 2017). We are finalizing all the details and will post event information at the beginning of 2017. We are thrilled to marry our passions to raise awareness and funding for NUBPL through our Rare Bourbon for Rare Disease fundraising events. All donations are tax-deductible and 100% of proceeds go directly to research and support.

We are on a mission to assemble a team of the world’s best researchers dedicated to finding a treatment/cure for NUBPL.

Just last week we had the honor of being invited to the White House by Matt and Cristina Might to celebrate their son Bertrand’s 9th birthday and meet their NGLY1 team for a discussion of Precision Medicine and NGLY1. We are so grateful for their love and guidance on this journey. (I am working on an in-depth article about their family, organization, and guidance…stay tuned.)

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We are grateful for each of you and look forward to our work in 2017. Thank you for being a part of our journey.
Love,
Glenda, Dave & Katherine Belle

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Mitochondrial Disease Awareness Week (September 18-24)

In honor of Mitochondrial Disease Awareness week, we would like to help you better understand Mitochondrial Disease, especially as it relates to our daughter. There are families that do not like to discuss their child’s disorder, and although we can respect that decision and honor their wishes, we have a very different perspective when it comes to our own daughter.

For starters, we cannot hide the fact that Katherine cannot walk, has a mild tremor, and an irregular speech pattern.  Knowing our child is a wonderful opportunity to learn about rare diseases as you get to know her personally, and since she is unable to fully articulate the ins and outs of her disorder, we are her voice. No, we do not think her disorder defines her, but it is as much a part of her as anything else. Second, we are not embarrassed by her disorder and do not want her to feel that it should only be discussed behind closed doors. Third, knowledge is powerful. We don’t want people to guess why our child cannot walk – we want to educate you with the facts so you can help spread awareness just by being informed.

This is the way we understand or think about our daughter’s condition: Katherine has a very rare genetic disorder known as Mitochondrial Complex I (or 1) Deficiency caused by mutations in her NUBPL gene. There are dozens of types of “Mitochondrial Complex I Deficiencies” but her particular type is very rare. To date, only 6 people have been diagnosed with it in the United States and approximately 25 in the world. That said, it has only been known about since 2010, and can only be diagnosed through Whole Exome Sequencing – a complex and often expensive genetic test. We expect many more to be diagnosed with it in the future.

One of the patients (residing in the U.S.) has identical mutations to Katherine. We know a little about her through research papers.

Because there are so many types of Mitochondrial Complex I disorders and each is different, we sometimes refer to Katherine’s type as “NUBPL,” the name of the gene affected.

So what is NUBPL/Mitochondrial Complex I Deficiency?

When people think of “mitochondria,” many think of DNA from just the mother. This is true only with respect to some of the DNA making up the mitochondria. In fact, they are put together mostly from gene pairs with one gene from each parent (nuclear DNA), plus just a handful involving just one gene coming from the mom (mitochondrial DNA).

All of our cells (except red blood cells) contain mitochondria. The mitochondria produce the energy our cells need to function, to replicate, and to repair themselves. They are the “powerhouses” of the cell.

This “power” is produced through a series of chemical reactions taking place in 5 different physical structures. These are called complexes I through V (or 1 through 5). They work together like an assembly line. If a problem exists in one “complex,” it can harm production down the line in another, ultimately resulting in too little “energy” being produced.

Like an actual power plant, the process of producing usable energy also produces chemical byproducts that can be toxic. Our bodies clean these byproducts through, among other things, “anti-oxidants.” However, sometimes a person with a mitochondrial disease produces too many toxic byproducts for the anti-oxidants to work, leading to a build-up of toxins. This process is called “oxidative stress.”

Thus, a good analogy is a power plant with five buildings, each producing products that are sent down the line, ultimately producing energy from the final building, Complex V, while also producing polluted water that is filtered and cleaned by another facility before being released into a stream. A person with a mitochondrial disease has a problem in at least one building of the five. As a result, she may not produce enough product to be passed along and ultimately turned into energy to meet the needs of the cell (not enough energy is coming out of Complex V) or may be spitting out too much pollutant to be filtered and the water in the stream is getting polluted.

Either of these can result in premature cell death or impaired function.

The nature of these diseases is that they often cause damage over time — again, like pollution from a factory. Similarly, illness can increase energy needs of the body, and cells can become damaged because of their inability to meet the needs in times of higher demand. Both of these things occurs in all of us as we age (mitochondrial dysfunction is a significant contributor to the symptoms of old age, including wrinkles, loss of muscle, loss of brain function, clumsiness, and heart disease). Patients with a primary mitochondrial disease just suffer this fate differently, earlier, and in different parts of their bodies. Note, however, that this is not the “premature aging” disease. Regardless, by their very nature, these diseases often progress.

The extent to which Katherine’s particular condition, NUBPL, is progressive is not yet known. In most cases, it progresses to a degree – it has with Katherine. Fortunately, many of the patients have long periods without any advancement of the disease and many are thought to have become stable. The reasons are not clear, nor has the disease been known about long enough to determine if this is typical.

The patient with Katherine’s identical mutations is now 13. Our information is now 5 years out of date (it was in a 2010 research paper). As of 2010, she could walk with a walker and had normal intelligence. She had not had much regression after an initial period of regression experienced when she was a toddler.

Different cell types have different energy needs. Skin cells, for example, need little energy, so contain few mitochondria. Heart, kidney, liver, and brain cells, on the other hand, have high energy needs, so contain the most mitochondria. Liver cells, for example, may contain as many as 2,000 mitochondria per cell. As a result, these parts of the body are susceptible to “mitochondrial diseases,” either because the energy needs are not being met, or in meeting them too much “pollution” is being produced. Some of these diseases affect only one of these parts of the body, while others may affect multiple systems.

Katherine’s disorder is a problem in “Complex I,” thus the name “Mitochondrial Complex I Deficiency.” This is the largest of the five complexes, the one involving the most genes for its assembly and function. It is the most common place for these diseases to arise.

Knowing that Katherine has a disorder in Complex I tells you very little. Returning to the power plant analogy, it is like telling you there is some sort of problem in “building one” of a five building complex, but not knowing what that problem is; it could be something small, like a clogged toilet, or it could be something large, like the complete collapse of the building. The devil is in the details.

Some Complex I deficiencies are quickly fatal. Others are far more benign. Indeed, it is likely that many are so benign that a person can live a long healthy life without knowing they have a disorder. Still others may suffer problems only late in life, such as developing Parkinson’s or heart disease.

Thus, Mitochondrial Complex I Disorders can range from quickly fatal to unnoticed and insignificant. No known patient has died from the disease and only one has died at all (from what is not clear, nor is it entirely clear that NUBPL was the only condition he had, as he was the first NUBPL patient and died before current testing methods were developed).

In Katherine’s case, the gene affected, NUBPL, is “nuclear,” meaning she inherited one gene from each of us. In order to manifest as a disease, Katherine had to receive one mutated gene from both of us – one mutated gene and one normal one will not result in disease, but only “carrier” status (Glenda and I are both carriers, each having one mutated gene, but not two). Having a single mutation of this gene is rare. Having parents who each have one mutation of the gene, rarer still. Having both pass one mutated gene to the child is extremely rare (there is only a 25% chance that two carriers will have a child with two mutations) – lottery-level odds (more people win the Powerball each year than are known to have NUBPL, worldwide).

Because it is so rare and so newly-discovered (discovered in 2010), not a lot is known about Katherine’s form of Mitochondrial Complex I Disorder. What is known or suspected is as follows:

The NUBPL gene is known as an “assembly gene.” This means that it is not part of the physical design or structure of Complex I, but is a gene that contributes to its assembly. In particular, it is involved in the assembly of “iron-sulfur clusters” that transfer electrons during the chemical reactions in Complex I.

Think of it as Katherine having an accurate blueprint for “building one” of her power plant, but someone used defective wiring or put the wiring in it the wrong way. What this means is not fully understood. One possible result of this is that the electrons that are supposed to be carried by this “wiring” may leak out and be transferred to chemicals other than those intended, producing the toxins referred to above (known as “Reactive Oxygen Species” or “ROS”).

While it would seem like this defect would affect the mitochondria throughout the body (and NUBPL patients must monitor all systems to make sure problems do not crop up), to date, NUBPL mutations seem concentrated in the brain of patients. While some NUBPL patients have issues throughout the brain, most are concentrated in the cerebellum.

Katherine is fortunate in that her brain appears to be spared except for the cerebellum and one very small inflammation in her corpus callosum that has not changed and may well resolve or never affect her in any way.

As far as energy production, Katherine’s Complex I residual function appears to be low normal in fibroblasts grown from her skin cells. No brain cells have been tested due to dangers from brain surgery. This is where it is likely to be most affected, so low normal residual function does not tell us much about her brain issues. She does not appear to lack energy, in general (a common issue in “mito kids”) – and exercise is likely good for her.

The cerebellum is not the part of the brain primarily involved in “higher” brain functions, nor is it involved in the autonomic functions (like breathing and heartbeat). That said, there are connections between the cerebellum and cognition in many cases (the role of the cerebellum in cognition is not fully understood). Some NUBPL patients have lower than normal cognitive abilities, while others (including the person with the same mutations as Katherine) have little to no cognitive impairment at all. This may depend on whether other areas of the brain are affected and to what extent, or it may be happenstance of what part of the cerebellum is or may come to be affected. We just don’t know.

We do know that the cerebellum helps regulate and direct the signals coming into and out of your brain. For example, the cerebellum does not initiate the signal from your brain telling your legs to move. However, that signal passes through the cerebellum before it is sent to the legs, and the cerebellum helps direct it and tell it how much pressure, strength and speed to use. The leg then sends the signal back the brain to tell it what has happened. That signal also passes through the cerebellum before being sent to the part of the brain in control of the leg. With a damaged/abnormal cerebellum, those signals can get mixed up, amplified, muted, or misdirected. This results in clumsiness, difficulty controlling the force or pressure of one’s muscles, difficulty writing, poor articulation of speech, poor motor planning, and a lack of coordination when walking, clapping, playing patty-cake, etc.

Because these signals travel through the cerebellum thousands of times per second from all parts of our bodies, significant problems can occur. As an example, the simple (to most of us) act of standing, alone, requires thousands of these signals to pass through the cerebellum each second; nerves of the ankles, feet, knees, thighs, torso, arms, neck, and head signal the brain about what they are doing, the inner ear tells it up from down, the eyes tell it what is going on around us, etc. These signals pass through the cerebellum, are regulated, and passed on to the higher brain for interpretation. That higher brain then decides what to do, and signals back how the body needs to adjust given all the signals coming in from all of these body parts. Maintaining balance while standing is a coordinated and complex function—one that modern computers could not hope to replicate – that we take for granted and do not even think about. That is not the case for Katherine. Katherine’s entire “balance center” of her cerebellum is the most affected, making balance a daunting task, requiring a great deal of concentration. It is like a normal person trying to walk a tight-rope in windy conditions. Add to that trying to coordinate all of these body parts to walk, and the task is beyond her current abilities.

The brain is remarkably adaptable, however. People suffering from significant brain injuries can re-learn to walk, talk, and function. Repetition and rehabilitation allow the brain to make new pathways and connections to do what it once did elsewhere.

Sensory input is hard for Katherine to process. She can be overwhelmed by chaotic environments, as her brain is not telling her what is going on in the same way as the rest of us. She processes things more slowly. This probably is not so much of a function of her higher intelligence, as her body’s way of communicating between her senses and her higher brain.

You can expect Katherine to be off balance. She will have trouble with writing. She may become overwhelmed or confused by sensory input. She will have trouble articulating her words. She will have difficulty controlling the volume and pitch of her speech. She will be clumsy and uncoordinated. She does not yet have a good grasp of the body’s “potty” warning signals — she is better at telling you she has gone, than telling you she is about to go. All of these things can frustrate her, cause her to withdraw from others at times, or become anxious. That said, she has a very good vocabulary and understanding of things.

Children with Mitochondrial disease have some difficulty controlling their body temperature, can become fatigued, need to stay hydrated, and can suffer more when ill than other children. So far, these do not appear to be problems with NUBPL patients, other than some worries when they become ill. However, there are things to be aware of in case they occur.

Katherine is currently on an experimental medication called EPI-743 (or is on a placebo. She will receive 6 months of both over a 14 month double-blind clinical trial). It is part of a clinical trial run by the National Institutes of Health. This is essentially a very potent anti-oxidant, thousands of times more powerful at the cellular level than any anti-oxidant you can get in food or supplements.  While administration and action of the medication in the body is a far more complicated thing, in a laboratory setting fibroblasts grown from her cells demonstrated susceptibility to oxidative stress (discussed above) and an 80% or higher return to viability from administration of the medication. We hope that predicts that the EPI-743 will clean up the toxins she may be producing and will help her cells produce energy, and arrest any progression of the disease. It could do more.  While it cannot revive dead cells, it may save those that were damaged and dying, and allow them to function better, improving her condition (along with physical and occupational therapy), not just arresting its decline.

She also is on a compounded medication commonly called a “mitochondrial cocktail” that does many of the same things in different ways, as well as supplement one of the chemical products of Complex I, being a substance called Ubiquinol, a form of CoQ10.

We lived with a misdiagnosis that guaranteed us that Katherine was going to die in the next few years. The NUBPL diagnosis is serious and full of unknowns, but “serious and unknown” is better than “known and hopeless.”

We want to stress that we think it is important for other children and their families to understand Katherine. This provides insight into the rare disease community in general, mitochondrial disease patients, in particular, and Katherine, individually. It will help them get to know Katherine (and others like her) and explain why she cannot walk or do other things they take for granted.

Tips for Successful Legislative Advocacy

In April 2016, Kentucky became the first state in the country to pass legislation that mandates private insurance cover prescribed vitamins and supplements for mitochondrial disease patients.

Twice a day our five-year-old daughter takes a compounded mixture of vitamins and supplements known as a “Mito cocktail.” Prescribed by her neurologist, this cocktail has shown many positive results, including increased muscle tone, stamina, stability, and a lessened intention tremor.

To date, the Mito Cocktail is the only treatment currently available for mitochondrial diseases.

However, less than 10% of insurance carriers cover this needed medication. Although Kentucky law already mandated coverage, our private insurance carrier continued to deny coverage every month, even going so far as to insinuate that our daughter takes it for “cosmetic purposes and performance enhancement.”

Frustrated and angry over the blatant wrongdoing by insurance companies, we decided it was time to clarify what was already mandated in existing Kentucky law.

Over the past few months, many have asked for advice so they can duplicate our success in other states. Before offering a few general tips to help get you started, I would be remiss not to mention that, combined, my husband and I  have a legal and policy background. We have good friends who are Kentucky state legislators and we are familiar with the political players of our state. Further, since 2013, we have become vocal, well-known advocates for our daughter through our various social media accounts, our blog, Hope For Katherine Belle,  as a contributing writer for the The Mighty, and by appearing in The New York Times Motherlode Blog. Yes, our careers and platform were instrumental in the speed with which we passed this bill, but don’t be discouraged if you don’t have a similar background.

Finally, I believe timing played an important role in rapid passage. During the same session, Senate Bill 146, known as “Noah’s Law,” called on insurance companies to cover amino acid based formulas, just as we were calling on insurance companies to cover prescribed vitamins and supplements for mitochondrial disease patients. Early passage of Senate Bill 146 and subsequent publicity was fortuitous: Legislators became familiar with the ways insurance companies manipulate language to deny coverage for medically fragile patients. Senate Bill 146 sponsor and physician Senator Ralph Alvardo had another bill filed relating to insurance – Senate Bill 18 – to which the following floor amendment was later added:

HFA2/HM( R. Smart ) – Amend KRS 304.17A-258 to specify that mitochondrial disease is an inborn error of metabolism or genetics to be treated by products defined as “therapeutic food, formulas, and supplements” and that health benefit plans that provide prescription drug coverage shall include in that coverage therapeutic food, formulas, supplements, and low-protein modified food products for the treatment of mitochondrial disease; specify that this act shall take effect January 1, 2017.

Tips for Successful Legislative Advocacy: 

1. The best advocate is an individual personally affected by the proposed legislation. Although a legal and policy background is helpful, it is not required to be an effective advocate for your child or yourself. Advocacy work is not for the faint at heart – it’s a slow, frustrating, deeply personal process, and, arguably, the most crucial part of the  legislative process. With hundreds of bills filed per session, legislators depend on advocates to educate them about a subject matter and, as the expert, you are the most qualified person for the job.

2. Request a face-to-face meeting with your representatives or their staff during the slower months between legislative sessions.
They represent your interests and should be willing to listen to your concerns. Tell your representatives your story. You are the expert; teach them everything they need to know. Schedules are packed during session, so it’s best to establish a relationship well before the start of session – this will give you ample time to tell your story and draft any proposed bill language. Likewise, meeting with legislators is an excellent way to learn more about the internal dynamics of your state legislature. Your legislator may not be able to help you directly, but they can help you navigate your way to the person who can be most helpful. And trust me, if you worked around legislators, you would quickly realize there’s no reason to be intimated by them. Yes, they are public figures, but they’re human just like the rest of us.

3. Do your homework and be specific.
While your personal story is the most powerful component, be prepared to share any relevant medical and scientific research as it relates to your cause. Likewise, you have a much better chance of success if you can present legislators with a complete package of drafted legislation, including where it falls in your state’s statutory scheme, as well as any statistical and economic information related the bill.

4. Create a “buzz” for your cause.
Establishing a “presence” through social media is a powerful tool to communicate your cause. Don’t limit your audience to just your own district or legislator – increase your reach across the entire state. For example, create a Facebook page dedicated to your legislative efforts, contact local media, or involve support organizations to broaden your reach. Ultimately, the bigger the “buzz,” the harder you are to ignore. For example, our daughter’s Facebook page and blog has a strong following. When we made the call for action, people listened and acted. Providing simple to follow links with letters to copy and paste and telephone numbers to dial, our grassroots strategy quickly gained momentum across the state. Voters were voicing their support for SB18 and legislators were listening to what their constituents were telling them. Just as you presented a complete package to your legislator, it’s as important to present a complete package to your supporters.

5. Know your audience and be prepared for the unexpected.
Do your research on the political climate and the key players in your state legislature. Even though your cause should be a non-partisan issue, I cannot emphasize enough the role politics play in the legislative process. Although this may not always be the case, brace yourself for the ugliness that is involved in the making of laws. Understand beforehand that it is within the realm of possibility that your cause will be used as a political football. Powerful opponents may come out against you. Establishing a public presence and creating a “buzz” for your legislation is key leverage should you need it. There is only so much a legislator can do from inside the legislature to get a bill passed. Your outside advocacy strategy may play an even more important role.

6. Never give up.
You are unlikely to succeed the first time you try to pass any legislation. Keep trying. Involve more advocates, make more alliances with key legislators, and never stop advocating for your child. Nothing on this planet is more powerful than a parent’s love for their child.
 

Five

If you’ve followed along since the beginning, you know the significance of these numbers.

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In past years, Katherine’s birthdays have been bittersweet, especially her third birthday.

Three:

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Unbeknownst to me when I ordered it, this birthday crown is clever and cost efficient. Instead of buying a new one every year, I can use the same one and just add a new number…you get the idea. Unfortunately, this little crown brought so many tears. Will she get to use every number? Please let her use all of these numbers.

Four:

Looking back, we realize that every prior birthday has greeted us with worries. By her first birthday, we knew something was wrong; our expectation that she would walk prior to turning one proved untrue and her motor development had stalled. Our nagging worry at one was a gut wrenching terror by two; she still was not walking. On her third birthday, we were living under a death sentence and the day was a bittersweet reminder that we probably had few such occasions left…Today, we have a new – an accurate – diagnosis, NUBPL, Mitochondrial Complex 1, and a new hope. This is a happy day and one of many more to come.

As I carefully placed those five pink and purple candles on top of her cake, a sense of relief washed over me. The haunting statistic that “30% of children with rare and genetic diseases will not live to see their fifth birthday” is now behind us. Yes, there are many struggles ahead, but it’s an indescribable moment to see those happy and beautiful sparkling eyes glowing in the light of five birthday candles.

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Soon after Katherine’s (mis) diagnosis in 2013, I wrote the following:

I do not know what tomorrow brings. None of us do. I believe in science, prayers, hard work, positive thought, and the healing power of love. Each day I share my photographs with friends and family and tell them a story that does not always require words, and that sometimes cannot be expressed with them. It is a story of faith, hope, love, and determination. As we continue ahead on our journey toward a diagnosis, I see a brave and thriving girl who is progressing, not regressing.  I see a happy and joyful child who meets every obstacle or challenge with the biggest smile and the most positive attitude. I see a future with many more photographs of accomplishments, milestones, and laughter. In all of my pictures, I see faith, hope and love. Above all, I see an abundance of love.

I have cried many tears in the last three years from witnessing the physical decline and death of numerous children with rare diseases we’ve met through social media. Instead of planning birthday party celebrations and school graduations, I have watched families plan funerals and suffer more than any human ever should.

As we continue ahead beyond this fifth birthday milestone, my own words lead me into the next chapter:

The past few years have been excruciatingly painful and tough, but I have learned a very valuable lesson: You never know what the next second of your life will bring.  My daughter guides me daily and reminds me that each moment is precious. Each day is a gift. She has taught me the significance of the quote, “We do not remember days, we remember moments.”  I have learned to enjoy and live in the present because it truly is the only moment that matters.

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Next Stop: Kindergarten

What a year for Katherine and our family. This has been a year full of change, including a new community, a new home, and a new school.

Last August I dropped her off for her first day of school and she never looked back. Not once.

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We made six trips to Bethesda, Maryland to the NIH for her clinical trial.

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She had one or more therapies a day, which included early Monday mornings before school and Wednesday afternoons away from school. She even conquered her fear of water in Aqua Therapy (swim lessons this summer).

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She took her first independent steps and continues to grow stronger daily.

She made a special trip to the beach with our dear friends.

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She made new friends and ate a lot of cupcakes.

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She did all the things I always hoped she would do, but feared would never happen. And she did things I never imagined my child would ever have to endure, but she did them all with a brave face, a good disposition, and a maturity beyond her years.

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Katherine is only four, but she has been through a lot, from hospitalizations, to medical testing, to constant therapies, and coming to terms with her own disability and disease. She is a tough child. She’ll be the first to tell you that she’s never sick or tired. She isn’t afraid of life or her challenges. I watch her fall down at least 25 times a day…and get right back up 26 times.

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At the end of the day, though, I constantly remind myself that she’s just four (almost 5) and really needs time to sit back, relax, and enjoy doing nothing but being a kid.

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As this school year comes to a close, I  want to take this opportunity to say thank you to Katherine’s teachers at Model Laboratory School. We are beyond blessed with teachers who understand her challenges, yet see her potential; understand that not all students learn the same way and encourage her to express true self; listen to our concerns and help in any way they can; and creatively find ways to help her learn and measure her understanding – all with love, patience, and a true enjoyment for their profession. Thank you, Ms. James, Mrs. Ballard, and Mrs. White. Thank you to all of her teachers and therapists. She loves you, emulates you, and says she wants to be you when she grows up.

Thank you for setting such a great example for her to follow. We will miss you very much. We admire you and thank you for giving her a strong foundation for her love of learning.

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Kentucky’s Children Need Your Help – Senate Bill 18

Twice a day Katherine takes a compounded mixture of vitamins and supplements known as a “Mito cocktail.” Prescribed by her neurologist from the Cleveland Clinic, this cocktail has shown many positive results, including increased muscle tone, stamina, stability, and a lessened intention tremor. We hope it also is warding off the progressive cerebellar damage her condition can cause.

Mitochondrial diseases disproportionately affect children and can be life-shortening and debilitating. Mito cocktails can increase the lifespans and quality of life of these children. They are the only treatment currently available for mitochondrial diseases.

However, less than 10% of insurance carriers cover this needed medication. Our own carrier has denied us every time for various reasons, including the ridiculous insinuation that Katherine is using it for “cosmetic purposes and performance enhancement.” They currently refuse to cover it because she needs it compounded – she cannot swallow pills.

The monthly cost for Katherine’s Mito cocktail is $250. For others it is much higher, as it will be for Katherine as she grows and needed dosages are increased.

Dave and I decided to take this matter to the Kentucky House of Representatives with the hope that clarification of existing law would make right what insurance companies abundantly abuse. The unfortunate reality is that insurance companies manipulate policy language to their own benefit – all at the expense of medically fragile children and their economically struggling families.

With the support of Senate Bill 18 sponsor and doctor, Senator Ralph Alvarado, Representative Rita Smart added an amendment that would clarify existing law:

HFA2/HM( R. Smart ) – Amend KRS 304.17A-258 to specify that mitochondrial disease is an inborn error of metabolism or genetics to be treated by products defined as “therapeutic food, formulas, and supplements” and that health benefit plans that provide prescription drug coverage shall include in that coverage therapeutic food, formulas, supplements, and low-protein modified food products for the treatment of mitochondrial disease; specify that this act shall take effect January 1, 2017.

The House approved it 96-1 and sent it back to the Senate for committee approval.

We have been informed that Senator Alvarado and others worked tirelessly for two years on SB 18. And from public record, we know that prior to Representative Smart’s Mito Amendment, SB 18 passed the Senate (30-8). They refused to pass it with the amendment, sending it back to the House to remove it.

What changed? At this time we do not know for certain. The Senate said they would NOT pass SB 18 with this amendment attached to it – all at the expense of children with Mitochondrial Disease.

I applaud the Kentucky House of Representatives for standing up and saying no to removing this important amendment. It is now in conference, which means that either the House can agree to remove it, leaving our sick children uncovered, or the Senate can agree to the amendment, giving them coverage for the only medicine that exists for their condition.

Please stand with us and let our unified voices be heard: We will NOT go away quietly or without a fair fight – Katherine Belle and everybody else’s Katherine Belles DESERVE better. Contact your representatives in the Kentucky House and Senate to ensure passage of SB 18 with this important Mito Amendment attached to it.

  1. CLICK HERE TO FIND YOUR SENATOR BY COUNTY
  2. CLICK HERE TO FIND YOUR REPRESENTATIVE BY COUNTY
  3. You will be directed to your representative where you will see a blue link with their email address. Once you click on “email,” a form will appear where you can type your information and a message. You can copy and paste the following:I support Kentucky’s children. Do you? If so, I respectfully request that you pass SB 18 with Representative Rita Smart’s Amendment: HFA2/HM( R. Smart ) – Amend KRS 304.17A-258 to specify that mitochondrial disease is an inborn error of metabolism or genetics to be treated by products defined as “therapeutic food, formulas, and supplements” and that health benefit plans that provide prescription drug coverage shall include in that coverage therapeutic food, formulas, supplements, and low-protein modified food products for the treatment of mitochondrial disease; specify that this act shall take effect January 1, 2017. This amendment is important to me and the medically fragile families of Kentucky.
  4. Please share this post with your network and encourage them to do the same. The clock is ticking, so please help us spread the word as quickly as possible. Thank you! You are a part of positive change.

 

 

 

3 Things I Want To Tell the Mom Receiving A Rare Diagnosis

Today may feel like the hardest day of your life. Whether or not motherhood is something you planned and dreamed about, you likely fantasized about the life of the person you carried inside of you. Would she look like me and have red hair, enjoy gymnastics and cheerleading, have a great sense of humor, and/or become the first female president?

Whatever it is you imagined for your child, it probably was not a rare disease. Disease, struggle, and/or early death is not something anyone wants for their child.

1. It is OK to mourn the health and life you wanted for your child.

Doing so does not mean you love your child any less or make the statement that you don’t want a child with a disability. Of course you want your child to live a long, healthy life with as little struggle as possible. It is natural to grieve the life you wanted for your child and to do so unapologetically.

2. As this grief lessens, you will imagine a new life with your child.

My daughter is constantly inspiring me with her determination, strength and perseverance. I cannot even begin to imagine what is in store for her because she is my teacher. Before this diagnosis, I naturally viewed everything from my worldview; now I have the opportunity to see it from her perspective. She does not seem to feel sad or angry or disappointed about her disease. This is her life and the only life she knows. Allow your child to show you that a well-lived life isn’t always the way you imagined it.

3. Don’t let anyone define your child.

People will put your child in a box because that’s how information gets organized. Encourage others to think outside that box. It’s easy to put a label on somebody and file them away with other “stuff” we don’t understand. Your child deserves better, and if you don’t advocate for them then nobody will do it for you. Just as your child taught you your new worldview, share your new perspective with others.

5 Tips for Appealing Genetic Testing

You just experienced the shock of learning your child has a rare disease and now your doctor recommends genetic testing as the next step.

Brace yourself for shock #2: In most cases, genetic testing is not covered by insurance. In other cases, genetic testing is covered under limited circumstances.

Insurance companies are in the business of collecting premiums, not paying claims. The term “healthcare” is a tricky word in this context: Don’t confuse a business that makes a profit from premiums with actual care. The harsh reality is that as a business model, they generally do not care about your child’s health if coverage reduces their profit margin.

Coverage for genetic testing is routinely rejected because companies can do so without fear of backlash. In other words, anything that doesn’t affect the majority of its policyholders is up for grabs. The very name “rare” disease sends a signal to the reviewer that denial of coverage won’t create a big enough stir.

Simply stated, the system is against you.

That said, we have received countless denials from two different insurance companies over the past three years, and have successfully appealed every single one. Here are a few tips for the appeals process:

1. First and foremost, have a current copy of your insurance policy.

If you don’t have one, contact them immediately and request a copy. It is your right as it contains everything covered under your policy. Keep a current copy handy for future use, because, unfortunately, this will not be the last time you’re going to need it.

2. Know your rights.

A) If your claim is denied, you have the right to an internal appeal, meaning you can ask your insurance company for a full and fair review of its decision; B) You often have the right to demand a specialist in the applicable medical field perform the review if denial was based on medical criteria. Request it. These specialists will have more independence and a better understanding of rare disease patients and the value of genetic testing; and C) You have the right to an external review from an independent, third-party – keeping in mind that their “independence” is debatable.

3. Ask your doctor to write a letter.

Most doctors are well versed in this area and will likely mention it when they discuss genetic testing with you. If not, initiate the conversation and coordinate their assistance.

4. Request all documentation related to the claim.You have the right to copies of all documents, letters, and peer-to-peer reviews related to the matter, and all guidelines, protocols or other criteria on which the decision was made for denial.

5. Consider the assistance of an attorney.

There are plenty of attorneys who offer pro-bono (FREE!) assistance. Ask around your community and groups.

Now you are ready to appeal. I like to include a photograph of my child with the appeal letter. Whether a picture is effective or not, I want the reviewer to see the human side of the appeal.

To the Parents Just Receiving a Rare Diagnosis

This is a day you will never forget: The day a doctor tells you your child has a rare disease. I recall doctors using medical terms I’d never heard while showing me MRI images I didn’t want to see.

The initial shock felt like a really bad nightmare. How had I lived 36 years without ever hearing about this horrible disease? It was incomprehensible to me that this disease even existed in the first place, let alone that our precious child has the misfortune of having it. How was this even possible? Why is this happening to my child?

Statistically, we had a better chance of winning the lottery, but the news was the complete opposite. The clinical diagnosis was worse than I ever imagined: I was told that my two-year old had a progressive neurological disease with a life-expectancy of five to seven years.

Every experience is different, but here are a few important things I’ve learned by being the mother of a child with a rare disease:

1) You are the expert when it comes to your child. My daughter’s initial diagnosis was incorrect. That’s right. Turns out she has a completely different disease. We are all conditioned to believe that doctors know all the answers, when in reality they do not. What they do offer is a background of extensive medical training, and perhaps, most importantly, the experience of seeing countless patients with a similar presentation of symptoms, etc. so they can diagnosis and treat  you. However, when your child has a very rare disease, most have never seen a patient like your child. An excellent doctor will acknowledge that the parents are the experts when it comes to rare diseases and ask for your input;

2) Instincts are more scientific than a doctor’s best guess. Again, when the diagnosis is rare, parents know more than the professionals;

3) Don’t be afraid to seek counseling. This diagnosis will change your life in an instant and take you on a wild emotional roller coaster ride. Your marriage, family, career, finances, emotional well-being and personal health will suffer from this diagnosis. Seek help;

4) Try, try, try to take care of yourself. You hear it every time you fly on an airplane: Please secure your own oxygen mask first before you try to help others. I constantly fail in this department, but it really is one of the best things you can do for your family;

5) If you don’t advocate for your child, NOBODY else will do it for you. You can do as little or as much as you want, but all of it begins and ends with you. That said, there are many individuals and organizations here to help you navigate your way. Some of my best resources are other parents farther along on this journey. Network with them via social media and ask for their guidance. Rare disease organizations, patients and parents are gaining a stronger presence each day;

6) You are NOT alone. A rare diagnosis can feel really lonely, but there is a community here to support you. They may not live in your community per se, but social media is a powerful tool to unite virtual communities. Although our children may have different diseases, we all share a similar journey. Find a group you feel comfortable with and share your story;

7) Regardless of your faith, don’t rule out science. Our child was diagnosed through Whole Exome Sequencing after being misdiagnosed by two doctors. Advancements in genetics are being made daily. Daily;

8) You will learn to live in the moment, which might be the greatest gift on this journey;

9) Prioritize your daily life. This is tough because everything shifts with this diagnosis. This may take years to figure out what works best for you and your family; and

10) Be kind to yourself. It’s easy to blame yourself for your child’s condition, but none of this has anything to do with fault.

 

 

Team Rare Disease

In many ways, I feel as though I have a good idea of what it entails to raise a future Olympian. The practices, the travel, the debt, the ups and downs, the feeling that you only get one shot at success, and the witnessing of a powerfully determined spirit.

Except my child isn’t competing to be the best in her sport; she wants to learn to walk with a gait trainer, and then have the strength and balance to take steps independently, and maybe, just maybe, twirl like a ballerina in her tutu.

I’ll never forget the first time a medical professional told me something may be wrong with my then two-year old. He said, “not all kids are athletes or Olympians, but they learn to compensate in other areas.” No doubt, this was an odd way of starting the conversation that my child needed to see a neurologist because she wasn’t walking independently, and nearly three years later,  I’m still shaking my head over his bedside manner.

What began as that awkward referral to a neurologist, turned into an eye-opening, emotionally draining  journey into the world of rare disease. A world where the tear-filled eyes of neurologists tell you they are 95% certain that your daughter is slowly dying of something they are unable to 100% diagnose; a world where science offers hope but at a high cost and without any guarantees for results.

In this world, parents quickly learn to fend for themselves because the same answer from the medical community is on repeat: We do not know at this time. I’ll never forget when the impact of this uncertainty hit me over the head. As I made a defeated walk across the campus of the Cleveland Clinic with my daughter in my arms, I realized we were on our own. I remember thinking that unless we know what type of disease was affecting our daughter, then we won’t know how to treat her, ranging from the decision to treat symptoms with tylenol versus ibuprofen, all the way up to different types of anesthesia. When you do not know the what, the how becomes a parent’s worst nightmare.

In the absence professional assistance and experience, the burden rests on the caregiver to make day-to-day decisions. If you have never been in this position, please take a moment to count your blessings.

We are all conditioned to believe that doctors know all the answers, when in reality they do not. What they do offer is a background of extensive medical training, and perhaps, most importantly, the experience of seeing countless patients with a similar presentation of symptoms, etc. so they can diagnosis and treat what ails you.

When your child has a rare disease, however, most doctors have never seen a patient like your child. It isn’t the doctor’s fault; they may be the best doctor in their field and still not know the answer because you don’t know what you don’t know. An excellent doctor will not be afraid to admit this.

We consider ourselves amongst the lucky because Whole Exome Sequencing gave us answers, confirming the genetic mutations causing our daughter’s disease. Knowledge about her type of disease opened the door for vitamin supplements, a clinical drug trial, therapy options, and basic answers to questions regarding tylenol vs. ibuprofen, best antibiotics and anesthesia, and now we are armed with an emergency protocol letter with all of this information. To say this piece of paper is a life-line is an understatement.

When you have a child like Katherine, the word “team” is used often to refer to the people we’ve hand-selected to give her the best chance possible at life. From medical professionals, to physical, occupational, and speech therapists, to the school where she spends her days, to clinical trials, these people make up our team.

As her caregiver, my job is to manage the team – to interview prospective members, to facilitate the communication of short-term and long-term goals, and to coordinate best practices and outcomes to other members. The stakes are HIGH and only the best will get the opportunity to be a part of her team. This is our one shot to get it right, so I really don’t have much use for inexperienced, uncooperative, or narrow minded team members.

Sometimes it is difficult for a trained professional to suspend their beliefs, which is pretty much required when dealing with a rare disease patient. After all, there is not a scientific, medical, or mental database from which to compare best treatments. Realistically, though, they are trained and paid to test, analyze, and give an opinion. That’s what we are asking them to do, after all. More often than not, there is strong scientific evidence and documentation to support that opinion. When that doesn’t happen, when they really just don’t know, that’s when their character and belief system matters most to us.

We decided to interview doctors to select one with the best experience and credentials, yet willing to admit he or she didn’t know everything. We learned very early that you don’t have to “hire” just any professional, that shopping around for a good fit is important. At the time we had been told by one doctor that our daughter was dying and basically sent home without plans for future testing. Thankfully, I didn’t feel this diagnosis was correct. Of course, I debated the power of denial verses motherly instinct for a year and a half, but in the end, instincts beat professional ‘opinion’.  And why shouldn’t you question an opinion based on the comparison to one – just one – other patient? Clinicians are taking a shot in the dark when they say they think your child has a particular disease they’ve never seen before. Truly.

Ultimately, I feel sad for the people who make statements like, “your child will never be an Olympian,” or “this family needs this genetic test to get closure on my diagnosis because the child is dying,” or “her parents think she’s going to be running up these hallways next year, but that’s not going to happen.” These professionals fail to acknowledge what they do not know. They make broad assumptions based on their experiences and fail to take into account the power of love, determination, and above all, the human spirit. I say this not to judge their character or intentions, which I believe are good, but with the hope that they see how this mind-set doesn’t offer any positive progress.

We are not unrealistic about the challenges our daughter faces, but nobody can say with certainty that she won’t walk independently or be an Olympic athlete. What I do know is she has more determination in her pinky finger than most have in their whole being.

Believing something is possible when everything tells you it isn’t takes a leap of faith, but in the end, regardless of the outcome, people don’t feel disappointed at the people who believed that anything was possible.

EPI-743 Trial Update

It’s the dawn of a new year and new possibilities. So much has happened since our last update, so let’s start there.

Katherine entered the EPI-743 clinical trial at the beginning of August. As a part of the trial, Katherine is monitored very closely – monthly blood work at home and/or at the National Institutes of Health (NIH) –  to look for changes in her body while she’s on EPI-743/placebo.

What is EPI-743?
EPI-743 is a small molecule drug that is currently in clinical trials in the United States and Europe. EPI-743 was recently granted orphan drug designation by the FDA to treat patients who are seriously ill and have inherited mitochondrial respiratory chain disorders. EPI-743 works by improving the regulation of cellular energy metabolism by targeting an enzyme NADPH quinone oxidoreductase 1 (NQO1).

How is it given?
EPI-743 is administered orally or through a gastrostomy tube.

How was EPI-743 discovered?
EPI-743 was discovered and developed by Edison Pharmaceuticals by using a technique called high throughput screening. Edison evaluated thousands of chemicals that target cellular electron handling, and finally selected EPI-743 based on its ability to work, be orally absorbed, and its safety.

Why can’t my doctor just prescribe EPI-743?
EPI-743 is an experimental drug. It cannot be prescribed yet because the FDA does not approve it. Access can only be obtained through clinical trial enrollment. Results will be closely monitored at specified enrollment sites, under the direction of clinical research investigators.

Are there additional clinical sites being established? Additional trial sites are being established in Europe, Japan, and in North America.

In a nutshell, EPI-743 is the closest thing to hope available (through clinical trial) in treatment form. Mitochondrial dysfunction is linked to many neurological diseases such as Parkinson’s, Alzheimer’s, ALS, and other diseases like diabetes and some cancers, so this research is important for so many.

In March 2016, Katherine will begin the “washout” phase of the trial – a two month period when she will not take anything, placebo or EPI. (It takes around two months to completely leave your system, thus the “washout” before entering phase II.)

Each person we’ve encountered at the National Institutes of Health is above and beyond wonderful. We feel so fortunate to be a part of their program and could not ask for a better experience. We are grateful for the opportunity to meet so many dedicated and caring individuals.

Many people ask us if we think Katherine is currently on the placebo or EPI? We have no idea, honestly. For example, she hasn’t DRASTICALLY improved, i.e. started walking independently; however, she has maintained her skills and improved in some areas, so it is hard to say.

She started Pre-K in August and loves it.

She is getting more therapy than EVER with three physical therapy sessions, two occupational therapy, and speech therapy per week. One physical therapy session is done on a machine called Geo, which uses treadmill therapy to make her walk. Not only is it creating muscle memory  and tone, it is creating new pathways to her brain. Very amazing technology.

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All of these changes have happened since she started the EPI trial, so it would be hard to say if she’s improving because of school and therapy or because she’s on the actual EPI drug and benefitting from it. Time will tell.

Of course we fantasize that she’s currently on the placebo and something miraculous will happen in the coming months. Realistically, though, miracles have already happened – at the moment she’s thriving, happy, loving school, and hard working at her therapies. Katherine is the most determined person I know, truly.

This time last year she was still undiagnosed (and we believed she had INAD), we were thinking about her Wish trip, and I had just prepared what I feared would be her last Christmas meal.

Placebo or EPI, we are fortunate in so many ways.

The constant for us is that we simply do not know what the future holds. That will never change. All I can do is keep you posted as it unfolds. Your perspective changes so much on this journey. In the end, EPI may or may not be the answer. Sometimes the benefit isn’t improvement, rather it prevents further regression. The good news is that if it proves beneficial, then she can continue to have access to the drug even if it is not on the market. I am hopeful because clinical trials exist and science is making great strides daily. None of this would have been possible just a few years ago, so I am thankful that our daughter can possibly benefit and contribute to research, treatment, and hopefully a cure.

We wish all of you a very Happy 2016!

The Christmas I Thought Was My Child’s Last

December 2014 was one of the hardest months. Katherine had been given her second 90-95% diagnosis of Infantile Neuroaxonal Dystrophy (INAD) from another top neurologist. She showed signs of regression that are typical for INAD patients – loss of skills (she no longer was able to climb and asked for help getting up on the bed), seizure-like activity, and she started saying she couldn’t see very well in low light. We found ourselves in the hospital for four long days of testing as others were putting up their Christmas trees and baking cookies.

IMG_6861 The only things standing between what appeared to be the inevitable and hope were a miracle and a whole exome sequencing test. We wouldn’t get results back until February.

A few months earlier I ran into a dear friend’s mother whom had recently lost her husband to lung cancer. Full of grace and eloquence, she passed along some wisdom as our tear-filled conversation concluded:

As my own mother battled cancer, she taught us that how we leave this life is as important as how we live it, and that we should try our best not to grieve the dying until they are gone. This is very hard to do, though, I know.

Christmas is especially tough for the caregivers of those with a terminal illness.  Amidst the magic of a season rich in faith, family, and tradition, your own pain is amplified against the backdrop of a world that is enveloped in a warm, merry bubble of happiness and joy. For me, this time of year hurt a little deeper, especially with Katherine’s recent regression.

As I walked down the aisles of the grocery, slowly and methodically gathering ingredients for Christmas dinner, overhead Bing Crosby was singing “I’ll Be Home for Christmas,” told from the point of view of an overseas soldier during WWII, writing a letter to his family:

I’ll be home for Christmas
You can plan on me
Please have snow and mistletoe
And presents on the tree.

Christmas Eve will find me
Where the love light gleams
I’ll be home for Christmas
If only in my dreams.

I looked around at the smiling faces as these words blared in my head and realized I was shopping for what I believed was my child’s last Christmas dinner; there would be no more snow and mistletoe, or presents under the tree. The ghost of Christmas future was whispering my worst nightmare in my ear: I would be a childless mother for the rest of my life.

Right then and there, in the middle of a grocery store aisle filled with singing reindeer and Christmas tree shaped candy, I came face-to-face with my child’s fate and my future. I openly grieved for the life she’d never have, for the Christmases we’d never get to share, and the short motherhood I’d experience. The cart supported my weight as I maneuvered my way to a place where I could be as alone as one can be in the middle of the holiday section at a grocery store a few days before Christmas.

Somehow I managed to walk myself up the the check-out and pay for the items. As I drove home, I reminded myself of what my friend told me a few months earlier:

As my own mother battled cancer, she taught us that how we leave this life is as important as how we live it, and that we should not try our best not grieve the dying until they are gone. This is very hard to do, though, I know.

Yes, I know. So tough. It was nearly impossible.

I managed to cook one of my best meals ever that year, and Katherine looked so lovely sitting at the table, basking in the glow of candlelight, love, and Christmas magic. Across the table I was savoring and imprinting this memory – praying the warmth and love I felt in the moment would get me through the coldest days ahead.

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Mitochondrial Disease Explained for Non-Scientists

There are families that do not like to discuss their child’s disorder, and although we can respect that decision and honor their wishes, we have a very different perspective when it comes to our own daughter.

For starters, we cannot hide the fact that Katherine cannot walk, has a mild tremor, and an irregular speech pattern.  Knowing our child is a wonderful opportunity to learn about rare diseases as you get to know her personally, and since she is unable to fully articulate the ins and outs of her disorder, we are her voice. No, we do not think her disorder defines her, but it is as much a part of her as anything else. Second, we are not embarrassed by her disorder and do not want her to feel that it should only be discussed behind closed doors. Third, knowledge is powerful. We don’t want people to guess why our child cannot walk – we want to educate you with the facts so you can help spread awareness just by being informed.

This is the way we understand or think about our daughter’s condition: Katherine has a very rare genetic disorder known as Mitochondrial Complex I (or 1) Deficiency caused by mutations in her NUBPL gene. There are dozens of types of “Mitochondrial Complex I Deficiencies” but her particular type is very rare. To date, only 6 people have been diagnosed with it in the United States and approximately 25 in the world. That said, it has only been known about since 2010, and can only be diagnosed through Whole Exome Sequencing – a complex and often expensive genetic test. We expect many more to be diagnosed with it in the future.

One of the patients (residing in the U.S.) has identical mutations to Katherine. We know a little about her through research papers.

Because there are so many types of Mitochondrial Complex I disorders and each is different, we sometimes refer to Katherine’s type as “NUBPL,” the name of the gene affected.

So what is NUBPL/Mitochondrial Complex I Deficiency?

When people think of “mitochondria,” many think of DNA from just the mother. This is true only with respect to some of the DNA making up the mitochondria. In fact, they are put together mostly from gene pairs with one gene from each parent (nuclear DNA), plus just a handful involving just one gene coming from the mom (mitochondrial DNA).

All of our cells (except red blood cells) contain mitochondria. The mitochondria produce the energy our cells need to function, to replicate, and to repair themselves. They are the “powerhouses” of the cell.

This “power” is produced through a series of chemical reactions taking place in 5 different physical structures. These are called complexes I through V (or 1 through 5). They work together like an assembly line. If a problem exists in one “complex,” it can harm production down the line in another, ultimately resulting in too little “energy” being produced.

Like an actual power plant, the process of producing usable energy also produces chemical byproducts that can be toxic. Our bodies clean these byproducts through, among other things, “anti-oxidants.” However, sometimes a person with a mitochondrial disease produces too many toxic byproducts for the anti-oxidants to work, leading to a build-up of toxins. This process is called “oxidative stress.”

Thus, a good analogy is a power plant with five buildings, each producing products that are sent down the line, ultimately producing energy from the final building, Complex V, while also producing polluted water that is filtered and cleaned by another facility before being released into a stream. A person with a mitochondrial disease has a problem in at least one building of the five. As a result, she may not produce enough product to be passed along and ultimately turned into energy to meet the needs of the cell (not enough energy is coming out of Complex V) or may be spitting out too much pollutant to be filtered and the water in the stream is getting polluted.

Either of these can result in premature cell death or impaired function.

The nature of these diseases is that they often cause damage over time — again, like pollution from a factory. Similarly, illness can increase energy needs of the body, and cells can become damaged because of their inability to meet the needs in times of higher demand. Both of these things occurs in all of us as we age (mitochondrial dysfunction is a significant contributor to the symptoms of old age, including wrinkles, loss of muscle, loss of brain function, clumsiness, and heart disease). Patients with a primary mitochondrial disease just suffer this fate differently, earlier, and in different parts of their bodies. Note, however, that this is not the “premature aging” disease. Regardless, by their very nature, these diseases often progress.

The extent to which Katherine’s particular condition, NUBPL, is progressive is not yet known. In most cases, it progresses to a degree – it has with Katherine. Fortunately, many of the patients have long periods without any advancement of the disease and many are thought to have become stable. The reasons are not clear, nor has the disease been known about long enough to determine if this is typical.

The patient with Katherine’s identical mutations is now 13. Our information is now 5 years out of date (it was in a 2010 research paper). As of 2010, she could walk with a walker and had normal intelligence. She had not had much regression after an initial period of regression experienced when she was a toddler.

Different cell types have different energy needs. Skin cells, for example, need little energy, so contain few mitochondria. Heart, kidney, liver, and brain cells, on the other hand, have high energy needs, so contain the most mitochondria. Liver cells, for example, may contain as many as 2,000 mitochondria per cell. As a result, these parts of the body are susceptible to “mitochondrial diseases,” either because the energy needs are not being met, or in meeting them too much “pollution” is being produced. Some of these diseases affect only one of these parts of the body, while others may affect multiple systems.

Katherine’s disorder is a problem in “Complex I,” thus the name “Mitochondrial Complex I Deficiency.” This is the largest of the five complexes, the one involving the most genes for its assembly and function. It is the most common place for these diseases to arise.

Knowing that Katherine has a disorder in Complex I tells you very little. Returning to the power plant analogy, it is like telling you there is some sort of problem in “building one” of a five building complex, but not knowing what that problem is; it could be something small, like a clogged toilet, or it could be something large, like the complete collapse of the building. The devil is in the details.

Some Complex I deficiencies are quickly fatal. Others are far more benign. Indeed, it is likely that many are so benign that a person can live a long healthy life without knowing they have a disorder. Still others may suffer problems only late in life, such as developing Parkinson’s or heart disease.

Thus, Mitochondrial Complex I Disorders can range from quickly fatal to unnoticed and insignificant. No known patient has died from the disease and only one has died at all (from what is not clear, nor is it entirely clear that NUBPL was the only condition he had, as he was the first NUBPL patient and died before current testing methods were developed).

In Katherine’s case, the gene affected, NUBPL, is “nuclear,” meaning she inherited one gene from each of us. In order to manifest as a disease, Katherine had to receive one mutated gene from both of us – one mutated gene and one normal one will not result in disease, but only “carrier” status (Glenda and I are both carriers, each having one mutated gene, but not two). Having a single mutation of this gene is rare. Having parents who each have one mutation of the gene, rarer still. Having both pass one mutated gene to the child is extremely rare (there is only a 25% chance that two carriers will have a child with two mutations) – lottery-level odds (more people win the Powerball each year than are known to have NUBPL, worldwide).

Because it is so rare and so newly-discovered (discovered in 2010), not a lot is known about Katherine’s form of Mitochondrial Complex I Disorder. What is known or suspected is as follows:

The NUBPL gene is known as an “assembly gene.” This means that it is not part of the physical design or structure of Complex I, but is a gene that contributes to its assembly. In particular, it is involved in the assembly of “iron-sulfur clusters” that transfer electrons during the chemical reactions in Complex I.

Think of it as Katherine having an accurate blueprint for “building one” of her power plant, but someone used defective wiring or put the wiring in it the wrong way. What this means is not fully understood. One possible result of this is that the electrons that are supposed to be carried by this “wiring” may leak out and be transferred to chemicals other than those intended, producing the toxins referred to above (known as “Reactive Oxygen Species” or “ROS”).

While it would seem like this defect would affect the mitochondria throughout the body (and NUBPL patients must monitor all systems to make sure problems do not crop up), to date, NUBPL mutations seem concentrated in the brain of patients. While some NUBPL patients have issues throughout the brain, most are concentrated in the cerebellum.

Katherine is fortunate in that her brain appears to be spared except for the cerebellum and one very small inflammation in her corpus callosum that has not changed and may well resolve or never affect her in any way.

As far as energy production, Katherine’s Complex I residual function appears to be low normal in fibroblasts grown from her skin cells. No brain cells have been tested due to dangers from brain surgery. This is where it is likely to be most affected, so low normal residual function does not tell us much about her brain issues. She does not appear to lack energy, in general (a common issue in “mito kids”) – and exercise is likely good for her.

The cerebellum is not the part of the brain primarily involved in “higher” brain functions, nor is it involved in the autonomic functions (like breathing and heartbeat). That said, there are connections between the cerebellum and cognition in many cases (the role of the cerebellum in cognition is not fully understood). Some NUBPL patients have lower than normal cognitive abilities, while others (including the person with the same mutations as Katherine) have little to no cognitive impairment at all. This may depend on whether other areas of the brain are affected and to what extent, or it may be happenstance of what part of the cerebellum is or may come to be affected. We just don’t know.

We do know that the cerebellum helps regulate and direct the signals coming into and out of your brain. For example, the cerebellum does not initiate the signal from your brain telling your legs to move. However, that signal passes through the cerebellum before it is sent to the legs, and the cerebellum helps direct it and tell it how much pressure, strength and speed to use. The leg then sends the signal back the brain to tell it what has happened. That signal also passes through the cerebellum before being sent to the part of the brain in control of the leg. With a damaged/abnormal cerebellum, those signals can get mixed up, amplified, muted, or misdirected. This results in clumsiness, difficulty controlling the force or pressure of one’s muscles, difficulty writing, poor articulation of speech, poor motor planning, and a lack of coordination when walking, clapping, playing patty-cake, etc.

Because these signals travel through the cerebellum thousands of times per second from all parts of our bodies, significant problems can occur. As an example, the simple (to most of us) act of standing, alone, requires thousands of these signals to pass through the cerebellum each second; nerves of the ankles, feet, knees, thighs, torso, arms, neck, and head signal the brain about what they are doing, the inner ear tells it up from down, the eyes tell it what is going on around us, etc. These signals pass through the cerebellum, are regulated, and passed on to the higher brain for interpretation. That higher brain then decides what to do, and signals back how the body needs to adjust given all the signals coming in from all of these body parts. Maintaining balance while standing is a coordinated and complex function—one that modern computers could not hope to replicate – that we take for granted and do not even think about. That is not the case for Katherine. Katherine’s entire “balance center” of her cerebellum is the most affected, making balance a daunting task, requiring a great deal of concentration. It is like a normal person trying to walk a tight-rope in windy conditions. Add to that trying to coordinate all of these body parts to walk, and the task is beyond her current abilities.

The brain is remarkably adaptable, however. People suffering from significant brain injuries can re-learn to walk, talk, and function. Repetition and rehabilitation allow the brain to make new pathways and connections to do what it once did elsewhere.

Sensory input is hard for Katherine to process. She can be overwhelmed by chaotic environments, as her brain is not telling her what is going on in the same way as the rest of us. She processes things more slowly. This probably is not so much of a function of her higher intelligence, as her body’s way of communicating between her senses and her higher brain.

You can expect Katherine to be off balance. She will have trouble with writing. She may become overwhelmed or confused by sensory input. She will have trouble articulating her words. She will have difficulty controlling the volume and pitch of her speech. She will be clumsy and uncoordinated. She does not yet have a good grasp of the body’s “potty” warning signals — she is better at telling you she has gone, than telling you she is about to go. All of these things can frustrate her, cause her to withdraw from others at times, or become anxious. That said, she has a very good vocabulary and understanding of things.

Children with Mitochondrial disease have some difficulty controlling their body temperature, can become fatigued, need to stay hydrated, and can suffer more when ill than other children. So far, these do not appear to be problems with NUBPL patients, other than some worries when they become ill. However, there are things to be aware of in case they occur.

Katherine is currently on an experimental medication called EPI-743 (or is on a placebo. She will receive 6 months of both over a 14 month double-blind clinical trial). It is part of a clinical trial run by the National Institutes of Health. This is essentially a very potent anti-oxidant, thousands of times more powerful at the cellular level than any anti-oxidant you can get in food or supplements.  While administration and action of the medication in the body is a far more complicated thing, in a laboratory setting fibroblasts grown from her cells demonstrated susceptibility to oxidative stress (discussed above) and an 80% or higher return to viability from administration of the medication. We hope that predicts that the EPI-743 will clean up the toxins she may be producing and will help her cells produce energy, and arrest any progression of the disease. It could do more.  While it cannot revive dead cells, it may save those that were damaged and dying, and allow them to function better, improving her condition (along with physical and occupational therapy), not just arresting its decline.

She also is on a compounded medication commonly called a “mitochondrial cocktail” that does many of the same things in different ways, as well as supplement one of the chemical products of Complex I, being a substance called Ubiquinol, a form of CoQ10.

We lived with a misdiagnosis that guaranteed us that Katherine was going to die in the next few years. The NUBPL diagnosis is serious and full of unknowns, but “serious and unknown” is better than “known and hopeless.”

We want to stress that we think it is important for other children and their families to understand Katherine. This provides insight into the rare disease community in general, mitochondrial disease patients, in particular, and Katherine, individually. It will help them get to know Katherine (and others like her) and explain why she cannot walk or do other things they take for granted.

Exhale

Exhale.

I had a baby four years ago –
Baby never walked.
Physical therapy, occupational therapy, MRI…
Baby girl will die.

Not my baby girl, said I.

“Spend as much time with her as you can” –
Doctors, testing, genetics GALORE.
Stabbing pain in my heart…
Baby girl will die.

Not my baby girl, said I.

I see something you don’t see –
A fighter. A warrior.
She has her mama’s spirt…
Baby girl will not die.

Not my baby girl, said I.

Exhale.

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Happy first day of school, baby girl. We love your spirit and determination.

What is EPI-743?

If you follow us on Facebook (YOU REALLY SHOULD!), then you’ve seen our recent updates and photographs from the National Institutes of Health where Katherine started the clinical trial for EPI-743. I know how confusing this information may seem if you are not living it, so I’m sharing basic Q & A below from the United Mitochondrial Disease Foundation. (It took us a while to figure out that the “EPI” part of this trial drug name is the acronym for the manufacturer, Edison Pharmaceuticals Inc.)

What is EPI-743?
EPI-743 is a small molecule drug that is currently in clinical trials in the United States and Europe. EPI-743 was recently granted orphan drug designation by the FDA to treat patients who are seriously ill and have inherited mitochondrial respiratory chain disorders. EPI-743 works by improving the regulation of cellular energy metabolism by targeting an enzyme NADPH quinone oxidoreductase 1 (NQO1).

How is it given?
EPI-743 is administered orally or through a gastrostomy tube.

How was EPI-743 discovered?
EPI-743 was discovered and developed by Edison Pharmaceuticals by using a technique called high throughput screening. Edison evaluated thousands of chemicals that target cellular electron handling, and finally selected EPI-743 based on its ability to work, be orally absorbed, and its safety.

Why can’t my doctor just prescribe EPI-743?
EPI-743 is an experimental drug. It cannot be prescribed yet because the FDA does not approve it. Access can only be obtained through clinical trial enrollment. Results will be closely monitored at specified enrollment sites, under the direction of clinical research investigators.

Are there additional clinical sites being established?
Additional trial sites are being established in Europe, Japan, and in North America. (http://www.umdf.org/atf/cf/%7B858ACD34-ECC3-472A-8794-39B92E103561%7D/EPI.PDF)

In a nutshell, EPI-743 is the closest thing to hope available (through clinical trial) in treatment form. Mitochondrial dysfunction is linked to many neurological diseases such as Parkinson’s, Alzheimer’s, ALS, and other diseases like diabetes and some cancers, so this research is important for so many.

I first heard about this trial in September 2013 – just two days after we received Katherine’s first misdiagnosis for Infantile Neuroaxonal Dystrophy (INAD) – when Dave told me he found a trial that might be our only hope. He called the NIH directly and asked how we could get in the study. At the time we didn’t even know much about INAD or if it was even categorized as a “mitochondrial” disease, but Dave left no stone unturned. Fast forward to 2015 and a few months after Whole-Exome Sequencing (WES) results confirmed Katherine’s true diagnosis – NUBPL, Mitochondrial Complex 1 Deficiency. Dave’s early contact with the study (we were told EPI-743 wasn’t even in the building when he called that day) put us next in line when an opening became available in August 2015.

Once again we are reminded of the crucial role we play in advocating for our daughter. Nobody was going to make that call for us and ask how we could get our child on the list for the trial. YOU HAVE TO PICK UP THE PHONE AND DO IT YOURSELF. Thankfully, in our case, Dave did just that.

As always, Katherine was a trooper. Before starting the drug (placebo or EPI-743 – it’s a double-blind study so she will get six months of EPI-743 and six months of a placebo with a two month washout in between), a variety of tests had to be performed to establish a baseline.

Between needle pokes, a neuropsychological evaluation, and an EKG and Echocardiogram, Katherine enjoyed playing at The Children’s Inn at NIH. She loved the many playgrounds, art camp, therapy dog, family dinners, and being around other children.
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We have a fridge full of EPI-743 or placebo vials and hope it will reverse or stop the progression of her disease. Only time will tell. In the meantime, we are moving forward.

Katherine starts pre-K this Thursday where she will receive speech therapy, occupational therapy, physical therapy, and water (aqua) therapy. Like everything, school will be a transitional time, so we are focused on making her life as “normal” and routine as possible. We go back to the NIH in early September, with follow-up lab work done here at home in between visits.

Four

Today, our beautiful Katherine Belle turns four years old.
IMG_4102_2Looking back, we realize that every prior birthday has greeted us with worries. By her first birthday, we knew something was wrong; our expectation that she would walk prior to turning one proved untrue and her motor development had stalled. Our nagging worry at one was a gut wrenching terror by two; she still was not walking. On her third birthday, we were living under a death sentence and the day was a bittersweet reminder that we probably had few such occasions left.
IMG_2674IMG_8819Today, we have a new – an accurate – diagnosis, NUBPL, Mitochondrial Complex 1, and a new hope. This is a happy day and one of many more to come.IMG_4122_2 IMG_4073_2

Happy 4th birthday, Katherine Belle.  We love you baby girl!

Xoxo,
Mama & Daddy

Summer Update

It’s hard to believe Katherine turns four in just a few days (July 9th) and starts Pre-K on August 12th.  We are very excited about her attending Dave’s alma mater, Model Laboratory in Richmond.

We attended the United Mitochondrial Disease Foundation’s (UMDF) Mitochondrial Medicine Symposium 2015 in June and learned a great deal about the latest research. We spent time with family and friends living in the area and look forward to going back to DC soon.

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Katherine has been accepted for the National Institutes of Health (NIH) EPI 743 clinical study for mitochondrial diseases, which she will begin on August 3 in Bethesda, Maryland. The study lasts a year – 6 months she will receive a placebo and 6 months EPI 743. We will travel there multiple times over the next year for testing and monitoring. She will continue to take her “mitochondrial cocktail,” which is a compounded liquid consisting of CoQ10, L Carnitine, Lipoic acid, Thiamine, and Riboflavin. She started taking this cocktail in February 2015 and we have seen improvement with her muscle tone and shakiness. In fact, she is now able to stand independently for several seconds at a time. (Our insurance denied coverage of this $250/month cocktail, but Dave appealed and won. We learned insurance covers only 10% of these prescriptions.)

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In the meantime, we are enjoying the last days of summer before school starts in the fall.  Katherine has enjoyed fun days with cousins and friends, ice cream, the beach and pool, late nights, sleepovers with grandparents, family reunions, and everything else that fills childhood summer memories.

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We wish you a very happy 4th!

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What is NUBPL?

Gene Name: NUBPL, acronym for Nucleotide-binding protein-like

Also Known As:  Iron-sulfur protein required for NADH dehydrogenase or IND1

Location: Chromosome 14q12

Symbols: NUBPL; IND1; huInd1; C14orf127

Genetic Inheritance: Recessive

Gene Function: It is an iron-sulfur (Fe/S) protein that, in humans, is encoded by the NUBPL gene. It that has an early role in the assembly of the mitochondrial complex I assembly pathway.

Mutations in the NUBPL gene may cause a rare form of mitochondrial complex I disorder.

Typical clinical signs and symptoms:

  • Age of onset 1-2 years old
  • Developmental delay: Some patients
  • Delay: Motor; Unable to walk
  • Speech: Abnormal (Dysarthria)
  • Eyes: Strabismus; Nystagmus
  • Ataxia: Trunk & Limbs
  • Contractures
  • Spasticity
  • Cognitive: Normal or Reduced
  • Myopathy
  • Other organs: Normal
  • Course: Progressive, continuous or episodic

Laboratory signs:

  • MRI: Leukoencephalopathy with abnormal:
    • Cerebellar cortex: Progressive
    • Cerebral white matter, deep: May resolve
    • Corpus callosum: May resolve
      *Although these are characteristic MRI findings, there are others including abnormalities in the grey matter of the cerebellum, as is discussed in Hope for Katherine Belle.
  • Lactate: Serum normal or high; CSF normal or high
  • NUBPL protein: Reduced
  • Muscle biopsy
    • Histology: Ragged red fibers; No COX- fibers

Biochemistry: Complex I deficiency

Overview of NUBPL Mutations
GeneDx (USA): c.166G>A (maternal); c.815-27T>A (maternal); and c.693+1G>A (paternal)

Ambry 1 & 2 (USA): c.311T>C (maternal); p.L104P (maternal); and c.815-27T>C (paternal)

Kevelam 1 (Arg.): c.166G>A (unknown); and c.815-27T>C (unknown) (older results)

Kevelam 2 (Ger.): c.166G>A (paternal); c.815-27T>C (paternal); and c.667_668insCCTTGTGCTG (maternal)

Kevelam 3&4 (Can.): c.166G>A (paternal); c.815-27T>C (paternal); and c.313G>T (maternal)

Kevelam 5 (USA): c.166G>A (paternal); c.815-27T>A (paternal); and c.693+1G>A (maternal)

Kevelam 6 (Neth.): c.166G>A (maternal); c.815-27T>C (maternal); and c.579A>C (paternal)

Kevelam 7 (Australia): c.166G>A (paternal); c.815-27T>C (paternal); 240-kb deletion (maternal); and 137-kb duplication (maternal)

Research

Sheftel, A. “Human Ind1, an Iron-Sulfur Cluster Assembly Factor for Respiratory Complex I”. Mcb.asm.org. Retrieved 25 April 2015

Sheftel, A. “Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I”. Mol. Cell. Biol. 29 (22): 6059–6073. PMID 19752196.

Calvo, S. “High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency”. PMID 20818383.

Kevelam, S. “NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern”. Neurology 80 (17): 1577–1583. PMID 23553477

 

The more we connect with other NUBPL families, the closer we get to finding a cure.  Do you have NUBPL or do you think you may?  Or, are you a researcher who is interested in studying NUBPL?  Please contact us.  We want to hear from you. Although some families are public about their journey, we respect your desire for privacy.

 

NUBPL – Mitochondrial Complex 1

IMG_6825As many of you have already heard, KB was recently diagnosed with NUBPL – a rare form of Mitochondrial Complex 1 disorder. We cannot say enough good things about the genetic testing company, GeneDx, that provided the Whole Exome Sequencing. They have a very generous financial assistance policy (FAP) that allows them to work with patients on their out-of-pocket-costs, which is such a blessing on this financially strenuous journey.

We are pleased to let you know that since being diagnosed with NUBPL we have found another family with two daughters, Cali and Ryaan, with this same disorder. From the moment we watched their video, The Life We Live, and saw their photographs, we knew we found our community. What’s more is they are a wonderful family who shares the same passion for their family and drive to find a cure. They introduced us to their doctor, Virginia Kimonis, University of California Irvine, who has discussed her research with us. Here’s a wonderful article about Dr. Kimonis and The Spooner Family. We have spoken at length with Dr. Kimonis and are planning a trip to California to meet with her team and The Spooners.

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The Spooner Family

At this time, we have just three patients from the United States – Cali, Ryaan, and Katherine Belle. We are very hopeful we will find others in time. For now, together we face the monumental task of privately funding NUBPL research. Both families agree we will not let financial obstacles stand in the way of helping our children. We have created a NUBPL.org site and Facebook page to facilitate the search for other NUBPL patients and raise funds. Please take a moment to view our new site and Facebook page and share with your networks. A special thanks to Matt Might for the shout out in his informative post, Discovering new diseases with the internet: How to find a matching patient.

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Cali, 16
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Ryaan, 6
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Katherine Belle, 3

Last week we learned the wonderful news that KB has been accepted for the U.S. National Institutes of Health EPI 743 clinical study. We feel very blessed to be in this study and are quite hopeful this drug will greatly improve her mitochondrial function. We are hopeful that Cali and Ryaan will be admitted to this trial in the future.

NUBPL Gene – Mito Complex 1 (Diagnosed)

February 2015 – Katherine Belle was DIAGNOSED through Whole Exome Sequencing: Mitochondrial Complex 1 – NUBPL Gene.

We want to introduce you to the Spooner Family and their daughters Cali and Ryann, both of whom have mutated NUBPL genes like Katherine. We were undiagnosed for only two years…their oldest daughter was undiagnosed for thirteen years.

Although not identical, I can tell you that after seeing this video I immediately saw similarities between our daughters. After being misdiagnosed for so long with something that didn’t feel right in our hearts, it is so comforting to know and accept the correct diagnosis.

Please watch this video when you get some time. It’s lengthy, but very important and inspiring: The Life We Live

We are all interested in finding others with the same diagnosis.  They may contact me at gcmccoy1@aol.com.

Her Knight Father-Daughter Dance

Lexington has a father-daughter dance organized by the Her Knight organization. I took Katherine Belle to our second such dance this past Saturday.  Here is a little update on our date:

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Katherine’s dress was beautiful. Glenda somehow managed to take pictures of her in it, looking serene and regal.  The truth was much different. She was worked up and maniacal. These pictures were somehow captured mid-action at precisely the right time to make them look posed. In fact, in my favorite photo below, you can see her left hand clutching her dress to pull it up to rub her face.  Yet, somehow, my wife caught her looking calm, mid yank.

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After she was dressed, she looked at herself in the mirror and said “I’m a Princess!”  Yes, you are indeed.

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Katherine is a very shy little girl, much like her parents.  Noise and commotion make her withdraw all the more.  As a result, when people came up to talk to her at the dance, she would not talk back.  At best, she would smile.  Then, when they left, she would talk about them non-stop. This happened several times, as we met several dads and volunteers who knew Katherine from our blog.  I loved seeing them and them introducing their daughters to Katherine.  Katherine enjoyed this as well. For example, after meeting a dad and daughter in line for photographs, Katherine commented “I really am a famous princess!” because they recognized her.  She would not talk much while eating at our table or in line, but several fathers and their daughters made a really positive impression on her.

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Katherine and I spent about an hour of the dance with her dragging me around.  I held her hands from the back, while she “walked.”  She would periodically hop (with me boosting her in the air), which is her version of dancing.  This was really fun for her, as she loved the way her dress puffed up when she jumped. She often squealed when we did this.  She also had a head bobbing, stomping move that would be more at home in a mosh pit than a daddy daughter dance, but, hey, it was fun for her.

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She also loved the Chik-fil-a chicken nuggets and the cookies, but not so much the Chik-fil-a cow mascots. The stuffed ones were okay, but the life-sized moving ones were still scary, despite a recent trip to Disney to see similar characters.  In fact, after an hour of dancing, our evening ended abruptly after one of the cows approached her too closely.  She demanded an immediate exit – well, she delayed long enough to grab a cookie.

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I want to thank Her Knight, and Amanda Bledsoe in particular, for putting on such a great event.  You truly made Katherine’s day.  Mine even more.  Katherine spent all morning Sunday telling her dolls she was “Princess Katherine Belle” and making them “knights.”

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Be Mine

IMG_4835Earlier this week I pulled out a few Valentine’s Day decorations and found Katherine’s mail bag from her daycare days.  I saved the few cards she received (she was only there for two years).  Looking through them made me sad because she isn’t currently in school (we are planning to send her next year) and doesn’t have a peer group.  She makes cards for her therapists and relatives, but she really doesn’t receive any.  IMG_4746IMG_7537Who wouldn’t want this girl to be their Valentine?
IMG_4940Let’s show Katherine Belle how much she’s loved.  She LOVES Valentine’s Day.  Let’s shower her with love.

IMG_4758Xoxo,

Glenda & Dave

#Hope4KB

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I like a challenge, especially when the challenge is for a good cause. What is #Hope4KB?

  1. #Hope4KB is a T-shirt campaign designed to raise awareness for rare diseases around the world through social media (KB is our daughter, Katherine Belle, a three-year-old from Lexington, KY, who is battling an unknown, progressive rare disease);
  2. You purchase your #HopeforKB shirt from Print My Threads here;
  3. Orders will be collected through March 1st. Wear on Rare Disease Day on February 28, 2015 (only orders placed by February 18th will arrive for Rare Disease Day, but we want you to wear this shirt all the time!) ;
  4. Take a picture of yourself and/or family and friends wearing your #Hope4KB shirt and share it on your social media accounts, i.e. Facebook, Instagram, Twitter, etc. with #Hope4KB; and
  5. The goal is to BREAK. THE. INTERNET.

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Ellen did it.  Kim Kardashian did it. It happened with the ALS #IceBucketChallenge – Let’s do it with #Hope4KB! Not to mention these are the softest, most comfortable American Apparel tri-blend short sleeve track shirts.  Trust me, you’ll be wearing this shirt LONG after February 28, 2015. (Psst…you can still help even if you don’t have any social media accounts – this campaign is for everybody!  Simply take a picture and send it to me at gcmccoy1@aol.com and I’ll make sure it’s shared!) *Proceeds will benefit Katherine Belle and Katie Webb Kneisley. (Click here to read her story.)

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A Magical Vacation

Laughter is timeless, imagination has no age, and dreams are forever.  
Walt Disney

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IMG_7348After working hard on a brief from December through early January, the time came for a much-needed break. Fortunately, this aligned with availability at our friends’ condo in Sarasota and while Glenda’s mom was in Wildwood, Florida.

Sandwiched between these two locations is Disney World. We are “wish-eligible” at Make-a-Wish and similar wish-granting organizations and have wondered whether Disney would be a good place to use our one wish for Katherine. With her sensory processing issues, we did not know if she would enjoy the experience. So, we decided to splurge for two park days to see in between Sarasota and Wildwood. I’m glad we did. Katherine really enjoyed the trip.

Glenda and I have decided to give you our top 10 moments on our Sarasota-Disney-Wildwood trip. We are not looking at one another’s list, so these may overlap. They may not. Here are mine, in chronological order:

  1. Walking from Sarasota to St. Armand’s key on our first day, in the beautiful 70-degree weather (leaving behind frost at home), eating lunch and gelato outside, and then walking back;IMG_4654IMG_4134IMG_4138IMG_5331IMG_5342IMG_5279IMG_5270
  2. Building Katherine a “bouncy castle” out of blow-up mattresses at the condo in Sarasota, and her laughter playing inside of it;IMG_5606
  3. Putting on a “puppet show” with Katherine’s stuffed animals from outside the “bouncy castle”;IMG_4246
  4. After learning of Katherine’s diagnosis, the concierge at the Disney resort booking reservation times for us at the rides we wanted to do, and then bringing her a stuffed Minnie Mouse doll. Well-played Disney, well-played;IMG_4403
  5. After running out to get something from the gift shop, returning to the room our first night at Disney to hear Katherine exclaim “Look Daddy, I can walk!” Followed by her letting go of the sides of her pack-and-play and taking a very good step by herself. She then showed mommy another step. While she cannot walk on her own, these steps are the best I’ve ever seen her take and her excitement at “being able to walk” was priceless. Magic Kingdom, indeed;
  6. Taking her on Dumbo as her first ride, then tentatively waiting to hear whether she liked it. Her exclamation, “play another game,” meant “yes”;IMG_6351IMG_6335
  7. Watching her slowly come to love the characters. She met Cinderella, Rapunzel, Belle, Ariel, Donald Duck, Goofy, Mickey, Daisy, Minnie (from a distance), Chip and Dale and some monkey-thing from the Lion King. Goofy and the monkey-thing frightened her – though she has a Goofy obsession. After being tentative, she grew to like them. She still held Glenda’s hand while meeting the animal characters, a separate favorite thing for me;IMG_6569IMG_6524
  8. Dancing with her in her princess dress while waiting for a table at a restaurant, while she made her dress puff out while jumping and twirling (with my assistance) only to realize that the entire restaurant was set up to look out the large windows over the lake behind us. We were the floor show;IMG_7392
  9. Looking at all the sleeping children and zombie-fied adults waiting for the bus back to the hotel after the fireworks, with the only spark of life in the entire line being our little KB, after 12 hours in two parks and no nap, still jumping up and down, screaming “Jump! Jump! Fireworks! Jump!” Boy were my arms tired; IMG_4557
  10. Listening to Katherine sing along with her Mickey’s Clubhouse DVDs on the ride home.
    (Ok, I have to give a couple more, sorry Glenda):
  1. Watching Katherine crawl-chase Glenda’s mom’s dog, Joey, to pet, kiss and play with him. Only last year, she was still physically shaking in fear at the sight of a dog;
  2. During a silly spat with Glenda on our last night in Wildwood, having Katherine say, in her best Glenda voice, “Calm down, Dave. Just calm down” – I honestly wasn’t “not calm” just a little animated – after laughing and sitting down and re-assuring her that I was ok and it was silly, and reminding her to always call me daddy (she only calls me “Dave” when she is imitating mommy), having her hug and kiss me and ask “does that make you not mad, daddy?” After answering “yes,” having her sit thinking for a minute, grin and then ram her toy rabbit, Bibi, in my face, then ask “Does that make you mad again?”;
  3. Watching KB bounce around singing “hot dog, hot dog, hot diggety dog”;
  4. After leaving our meeting with mermaid Ariel, hearing her remark that she was wearing the mermaid’s dress; andIMG_7297
  5. Being covered in glitter from carrying my little princess all over the park. Who knew I look fantastic in green glitter?

    Glenda’s top 10 moments, in no particular order:

  1. Our friends’ condo in Sarasota is a pink Spanish style built in the 1920s.  When we arrived, Katherine excitedly pointed to the condo, exclaiming, “We’re staying in a pink hotel!”  She talked about the ‘pink hotel’ the entire time;IMG_4149IMG_5594IMG_4109
  2. Katherine watching Mickey Mouse Clubhouse DVDs on the trip and knowing all the songs by the time we got home.  This was really a first for her in terms of trying to sing along. Hearing her sing, “hot dog, hot dog, hot diggity dog” is priceless;
  3. Riding “It’s a Small World” at Disney. It took me back to my own first Disney experience as a child.  I loved watching her eyes light up with delight.  When it ended she exclaimed,  “ride again!”  We did.  She loved it;IMG_6431IMG_6451IMG_6459
  4. Shortly after arriving at our Disney hotel, Dave asked the concierge about getting a handicap pass for our stroller.  Not only did he proceed to book everything we wanted to do in advance and give us guidance on everything we needed, but he showed up at our door 30 minutes later with a Minnie Mouse doll for KB.  As he handed it to me he said, “we hope your daughter has a magical stay at Disney”; IMG_4267
  5. I knew that I wanted her visit with Ariel to be extra-special.  We decided to take her to a shop to pick out a new dress and have glitter sprinkled in her hair.  Ariel was so excited to see that KB was dressed like her and made the visit memorable for all of us.  As I was taking photographs I saw the look of pure joy on KB’s face .  That moment brought tears to my eyes and a smile to my face.  Yes, this was where we needed to be at this moment.  As we pushed her away in her stroller, she looked at her dress and said, “This dress is really cute. I am a mermaid”;  IMG_7253IMG_7202IMG_7246
  6. Bibi was with us everywhere we went and got to enjoy all the sights and sounds, even getting a little glitter on her head;IMG_6801
  7. Seeing Dave covered in glitter from head to toe from carrying and dancing with his princess;IMG_6779
  8. Seeing Dave and KB dancing together in her beautiful princess gowns;IMG_4563IMG_6488
  9. We took her to a character breakfast even though we knew she might be afraid of life-size characters.  She was scared but we told them she just wanted to wave so they didn’t get too close.  By the time Daisy Duck came by she was less afraid and would reach out to hold my hand for reassurance.  It was very sweet how she held my hand and also very brave for someone who was completely over-stimulated; andIMG_4575
  10. Seeing Disney through the eyes of my daughter. Sometimes it’s best to jump in the car and drive to Florida, in the direction of Disney, with no particular plans but to feel sunshine on your face, eat ice cream, and laugh. As Disney himself said, “Adults are only kids grown up, anyway.”  After a very tough year of being more grown-up than I’ve ever imagined, it was fun to feel like a child again, if only for a few days.IMG_6478IMG_6372IMG_6378IMG_7273IMG_7179IMG_5836IMG_5436IMG_4434IMG_4576IMG_6130IMG_6156IMG_4164

A Year in Review (2014)

Yesterday is history. Tomorrow is a mystery. Today is a gift.  That is why it is called the present. – Alice Morse Earle

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It’s true that your life can change (for better or worse) in the blink of an eye, only to realize you spent your prior days focused on a future that may never exist.

Learning to live in the present is not easy.  Our lives are filled with clocks,  calendars, and deadlines.  It is nearly impossible not to think about the future.  And not just tomorrow or the next day, but that distant future that lures us in with false promises of happiness.  For most, “someday” is that glorious day when all our dreams come true and the troubles of today fade away.

It is such an enticing place that I have no doubt that most people cannot help but smile when they say the word “someday.”  Up until a little over a year ago, I was always dreaming about “someday.”  I remember thinking someday I will have more free time, find a more fulfilling job, have my house exactly the way I imagine…

On Friday, August 30, 2013, at around 7:30 p.m. my glorious someday ceased to exist as I received the devastating news that my daughter is  dying of an incurable metabolic disease.  In an instant, someday became so scary and painful that my mind tried to obliterate the concept entirely.  I hated that day and never wanted to see it.  I wasted so many years fantasizing about a day that I now dread with every fiber of my being.

My best analogy I can think of that most accurately describes in words the challenges of the past year requires an imaginary exercise:

You’re asleep and having your normal dreams when all of a sudden you are thrown into the middle of a big, cold ocean.  It’s really stormy, huge waves keep crashing over you, and you’re all alone.  You’re not the best swimmer, but somehow you don’t drown even though you are very fatigued and scared.  You are in survival mode.  You don’t remember how you got there, nor do you think about how long you’re going to be there.  You are there and you will die if you stop swimming.  Sometimes you tell yourself that you are asleep and it’s all just a nightmare, yet it’s not.  It’s beyond your understanding, but it is really happening.

You pray and ask God why this is happening?  Is this part of His plan?  In time you will understand His plan a little better and learn to trust it more than question it. And by doing so, you will find some peace.

Although nobody can pull you out of the water, many boats pass by and give you support (prayers, a life vest, encouragement, a boat, an ore, a compass, food, a fishing pole, water, etc.).  The boats that help far outweigh the ones that don’t.   Slowly but surely you become more familiar with your surroundings.  You are still vulnerable to the elements and storms, but you are paddling your boat the best you can one day at a time.  Over time you meet others in that vast ocean; people just like you.  You are not alone.

Navigating rare disease is much like learning to survive alone in the middle of a big, stormy ocean.  You really are left on your own to learn how to survive.  The sad reality is there are many barriers in our healthcare system.  Sure, there are benefits, but there is nothing worse than when the system fails your three year old. Sometimes in life you have to be your own life preserver.  And if you do it the right way, you may have to the opportunity to help others along the way.

I have learned a great deal about myself this past year.  It is amazing how little you fear when you are face-to-face with your worst fear.  After reviewing our work for 2014, I feel good about our accomplishments.  This list confirms we are not only surviving, which is a major accomplishment alone, BUT we are fighting.  And, based on the comments and letters I’ve received from so many this year, we are also helping others.   I have no doubt that God is with us on this journey and fully trust that His plan is far better than my once imagined “someday,” for better or worse.

A Year in Review (2014)

Advocacy

  • First article about our family was published in The New York Times, When the Diagnosis Is Rare, Parents May Know More Than Professionals;
  • Hope for KB sign campaign has received hundreds of photographs from around the world and from several notable celebrities, including Courtney Cox, Josh Hopkins, & Colin Hanks;
  • Made a short video about rare disease to share with Congress and on social media;
  • Encouraged individuals to write to Congressional members and ask them to join the Rare Disease Caucus. To date, Rep. Brett Guthrie, Rep. Andy Barr, and Rep. John Yarmuth have joined;
  • The Kentucky House of Representatives issued a Citation for Rare Disease Day (2013) and we took Katherine to the House floor to give a face to rare disease as the Citation was read by Representative Sannie Overly;
  • Hope for Katherine Belle has established a good following through social media networks, including Facebook, Instagram, and Twitter;
  • First blog post published on January 27, 2014.  To date we have published 31 posts detailing our journey.  Total reach is 45,049 views in almost every country around the globe;
  • Invited by the Rare Disease United Foundation to be included in Beyond the Diagnosis Art Exhibit at Brown University’s Alpert Medical School. The exhibit will travel to medical schools and hospitals across the country as a way of raising awareness about the many unmet needs of the rare disease community;
  • I have been invited (and accepted) to serve on the Board of Advisors for NGLY-1 Foundation and RUN (Rare and Undiagnosed Network); and
  • Dave offered legal assistance for several families (pro-bono) in their insurance appeals for genetic coverage.

Medical

  • Exhausted all testing at the Cleveland Clinic and received a 90% diagnosis of Infantile Neuroaxonal Dystrophy (INAD); received a third opinion from an INAD expert in Oregon of unlikely for INAD;
  • Appealed insurance denial for INAD test (won);
  • Researched every article available for INAD and similar diseases and performed genetic research on both sides of our families;
  • Participated in our first clinical study (NC Genes) at UNC – Chapel Hill.  We are awaiting whole exome results from this study (July 2015);
  • Second whole exome test through GeneDx.  Awaiting results (April – at the earliest – 2015); and
  • Raised $15,680 on KB’s GoFundMe page for whole exome, medical expenses, and travel; and
  • Established emergency care at the University of Kentucky following seizure activity in December. KB is now on seizure medication.

I have crossed paths with so many inspirational people and organizations this year – people whom I never would have met in my previous life.  So many friends, family, and strangers have helped in every single step of 2014.  Nothing was accomplished single handedly.  Nothing.  We have been blessed with phenomenal doctors, lawyers, nurses, techs, geneticists, politicians, clergy, therapists, this list goes on and on.  All the helpers of the world have shown up to help us during our crisis.

As for now I can tell you that Katherine is a very happy child who brings us far more joy than we imagined possible.  She is bright, funny, strong willed, fiercely independent, and delicate and dainty but tough as nails.  I miss her when she’s sleeping, laugh with her when she’s awake, and love watching her personality develop.  She’s my best girl always and forever.

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Learning to live in the present is a hard earned gift – one that has changed my life for the better.  My once “someday” has become my every “today,” and each day is an incredible gift. I look forward to sharing our days and a few goals with you in 2015.  Happy New Year!

Merry Christmas

 

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Thanks to Lisa Auge for the photo edit

Katherine gave us a big scare last Saturday when she had what we (and two neurologists) think was a seizure. After a four day stay at the University of Kentucky Children’s Hospital and a two-day EEG video, she is now on seizure medication.

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We are so happy to be home to celebrate Christmas. We made our annual Christmas cookies and ate them under the tree.

IMG_2386_2 IMG_2997We are doing our best to make this Christmas as magical as possible for Katherine.

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We do not have a P.O. Box established to receive cards or gifts.

We have asked that you please refrain from sending presents. We are trying to sell our home and I can assure you that KB has more than enough. If you want to help our family, we ask that you please make a donation to www.gofundme.com/hopeforkatherinebelle to help pay for medical expenses, testing, etc.

I have a bag of duplicate toys she’s received – yes, a bag a them! – ready to take to a toy drive.

If this isn’t something you want to do, then please donate a toy to a local charity, or donate to Rare Disease United Foundation, or Global Genes Project. Or share our story and help us raise awareness.

Also, please consider sending a card to sweet Addie.  She has an unknown rare disease and loves Christmas cards.

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Finally, if we could we would send each of you a Christmas card. Instead, please accept this card as a token of our love and appreciation for each of you. Thank you for following our story, for helping us raise awareness for rare disease, and for listening to and sharing our fears, our triumphs, our sorrows.

We are so grateful for the many generous donations you have made to help us fund this diagnostic odyssey. Mostly, we appreciate your prayers, kind hearts, and for loving a child you’ve never met, but want to help and pray for on a daily basis. You give us more comfort and hope than you may realize.

We truly believe that no matter what may come, we can all rejoice in knowing the world is a better place because of children like Katherine Belle.

From the bottom of our hearts, we wish each of you a very Merry Christmas!

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How am I doing? (Glenda)

KB is so sweet and innocent.  She has the voice and face of an angel and the kindest disposition.  Truly.

I miscarried my first pregnancy and was a nervous wreck throughout Katherine’s.  I knew I was going to feel so much joy and relief as soon as she was out of my belly and finally in my arms. What I wasn’t prepared for was the unbearable pain motherhood brought. A flood of emotions washed over me right after her birth and I remember crying so much, even asking myself “what have I done?”

It was the first time I understood – truly understood – that if anything ever happened to her that a part of me would die, that it would result in my complete undoing, and I would never be the same again.

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She is reaching the stage where she wants to do everything by herself. She even pushes my hand away when I offer her much needed help with eating, holding her so she won’t fall, etc. Today she told me she doesn’t need my help anymore, but the harsh reality is she needs it increasingly more because whatever is affecting her cerebellum is getting worse with each day.

I hear myself saying “be careful” too often.  I am having a hard time figuring out how to give her the independence she desperately desires without letting her hurt herself.

She has lost her ability to climb.  Not all that long ago she was climbing up and down on the bed and couch; now she asks for help just to get up.  She isn’t interested in using her walker anymore.  And just the other day I found her resting in the hallway as she crawled between our bedroom and her playroom.  

She chokes more when drinking and eating – another sign of progression – which will likely require a feeding tube in the future.

She falls more frequently when sitting and crawling.

As you can imagine, this is excruciating to watch, much like a child watching their parents slowly deteriorate before their eyes. But this isn’t my mom or dad. She’s my baby. And there’s nothing I can do about it at the moment except what we’re already doing. It is such a helpless, sad feeling. Of course it isn’t fair, but “fair” doesn’t have anything to do with it.

Katherine looks healthy in my photographs. Honestly, she is “healthy” and happy in the day to day sense, which is a blessing. However, my photographs don’t show the falls, the tremors, the tears of frustration, or the pain we feel as we helplessly watch her progression slowly unfold before our eyes with nothing to offer in terms of treatment, except for love and reassurance. Some days I try to convince myself this will be enough; other days I know it can’t stop what is happening. Mostly, I pray for time, understanding, a cure. Or to wake up from a nightmare and none of this be real.

And then I remind myself that I have to take this one day at a time. Otherwise I will be consumed by my grief and miss the precious moments we have with her.

How am I doing?  I have no idea, honestly.  I am just doing; just breathing; just trying not to think about the future.  There are times when I cannot stop crying.  Moments when her beauty and innocence take my breath away and I don’t understand how I am ever going to find the strength to watch her feel pain or go blind or the others things that could happen. Things I don’t even want to think about.

One day at a time; one moment at a time; one breath at a time.

How am I doing?

I received a call from my mom the other night asking if I was “ok.” She had read my post about Robin Williams’ suicide and noticed that I seemed to have low energy when I took Katherine to meet my parents for breakfast a few days earlier. She was concerned about my well being, much like I get concerned about Katherine’s.

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Am I ok?

The blunt answer is “no, I am not ok. I do not know that I will ever be ok again.” None of you want to read that. I am sorry to write it. Yet, that’s the truth.

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My daughter, the light of my life, is regressing. In the absence of a miracle, she is expected to live only a handful of years, will become increasingly off-balance and immobile, and will experience frustration at losing her ability to do things she wants to do and did just months before (to be candid, she already is expressing such frustrations), and that is just the precursor to possible dementia, seizures, blindness, and an inability to swallow. Her speech will become harder (is already becoming harder?) to understand until she cannot speak at all.

I have a recurring nightmare (what I am saying, these thoughts come to me in panic attacks in the day more often than at night) in which I go to work while Katherine is still asleep, so I do not get to say goodbye. By the time I get home, Katherine has lost her ability to talk. I will never again hear her say “I love you soooo much” or even “daddy.” I missed my last chance to hear these words while I was sitting at the desk at which I am now typing. At this very moment and as I am writing these very words, these thoughts are so real to me that my chest is tightening in panic and tears are welling in my eyes.

No, I am very much not ok.

The truth known by rare disease families is that despite being “un-ok,” you manage. In some ways you even thrive. You have moments, even days and weeks, of pure joy and happiness; when your only tears are those of laughter and joy.

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Laughter and joy are Katherine’s currency. She spends them freely. I am more alive than I have ever been. I feel more deeply than I’ve ever felt. I am better at living in the moment than before. I see genuine goodness in people around me, in friends, family and complete strangers. People who reach out to lift our spirits and to help us practically and emotionally. I see my daughter in all children and love them for it.

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We do not deserve the pain of rare disease, but we did not deserve the immense blessing that is Katherine, either.

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My dearest baby girl, I would go through the pain of this journey a million times in return for the joy I have experienced. As I wrote in that prayer book in Cincinnati on the day of your first MRI, “you are everything.”

Keep Churning

Every day on my way to and from work, I pass Boot Hill Farm in Clark County, the former home of Rena and John Jacob Niles. John Jacob was a man of many talents. He was a singer and a songwriter, crafted musical instruments and was an author. He is known as the “Dean of American Balladeers” and the Center for American Music at the University of Kentucky is named after him.

Their house on Boot Hill Farm is a veritable rabbit warren of contrasting styles and materials, with no apparent rhyme or reason for numerous additions. Yet, somehow, the lack of cohesive design causes the house, out buildings and farm to strike my imagination. It gives Boot Hill a feeling of whimsy. It is as if there is a method to this madness.

In 1947, Rena and John Jacob published an illustrated children’s book titled Mr. Poof’s Discovery, in which the title character, a mouse, made a discovery about cream. This story was modified and paraphrased in the movie Catch Me If You Can. The movie version was told as follows:

(Frank Abagnale, Sr.): Two little mice fell in a bucket of cream. The first mouse quickly gave up and drowned. The second mouse wouldn’t quit. He struggled so hard that eventually he churned that cream into butter and crawled out. Gentlemen, as of this moment, I am that second mouse.

To our readers affected by rare disease, or anyone else facing what seem to be hopeless circumstances or insurmountable obstacles, this story is a wonderful reminder why you should always keep churning.

And on we churn…

Robin Williams and Rare Disease

I read today that Robin Williams’ autopsy confirmed that he had Lewy Body Dementia. For those that do not know, this rare disease causes protein “bodies” to appear in nerves. These bodies impair nerve signals, often leading to hallucinations, dementia, and poor motor control.

This struck me particularly hard since Lewy Body Disease is similar in certain respects to Infantile Neuroaxonal Dystrophy (“INAD”), the condition two of Katherine’s doctors believe she likely suffers from. While the manifestations and causes are different, both involve problems and “bodies” in the nerves. With INAD, “spheroids” appear in neuronal axons throughout the body, but particularly in the Cerebellum (because the Cerebellum contains more neurons than the entire rest of the brain and body combined). In both cases, nerve functioning is impaired. With INAD, it also can lead to dementia and always results in poor motor control.

Neither condition has a cure. Both can be difficult to diagnose. Both are debilitating. Both are progressive.

It also hit home because Glenda’s grandfather “likely” had Lewy Body Disease. I say “likely” because he was never definitively diagnosed with it. As we now know all too well, it often is difficult to diagnose rare diseases. Indeed, Robin Williams was only diagnosed with Lewy Body Dementia after a brain biopsy performed during his autopsy discovered the tell-tale Lewy bodies. Glenda’s grandfather died in 2013, just months before the MRI that led the physicians to telling us that Katherine “likely” has INAD. I looked for a relationship between these conditions in my first frantic internet searches, and wonder about possible connections still. It is no wonder, then, that Robin Williams’ suicide resonates with me.

His painful decision to end his life strikes a different, but familiar, chord. Whether dementia caused by the Lewy bodies was a contributing factor in Williams’ decision to commit suicide, loss of muscle coordination was the final straw in a man suffering from life-long depression, or Lewy Body Disease played no factor at all in his decision to commit suicide may never be known. What we do know is that little hope is given for sufferers of Lewy Body Disease – or INAD or any of the other (approximately) 4,000 known or countless as-yet-unknown rare diseases. Few resources are devoted to studying rare diseases and few treatments are available. In many cases, few options are available to even diagnose them — and insurance steadfastly refuses to cover most genetic testing by labeling these non-invasive diagnostic tools as too “experimental;” this translates to “too expensive.” Support groups are hard to come by because patients are few and too wide-spread to find or meet with others like them. There is little community for those of us in dire need of a community’s support.

In the wake of the Robin Williams revelation, we should all take a moment’s pause to consider that a man as objectively successful as Robin Williams saw his life with rare disease as so bleak that his chosen alternative was to end it. While I do not support Robin Williams’ decision, I do understand it. I suspect many others in the rare disease community understand it too.

For those of you who may wonder why Glenda and I have this blog, it is more than an attempt to build awareness for rare diseases (though it is certainly that too). It also is our life raft in deep water. We are trying to keep afloat as we search for others. We rely on your contact and support to keep us paddling toward a shore we cannot see and often lose faith is even there, but continue to hope to find before it’s too late.

For those of you who found Robin Williams’ death to be tragic, please consider that you are surrounded by people – a full 10% of the population suffering from rare disease plus their affected loved ones – who may sympathize all too closely with his decision.

Then do something to help.

Connected To The Past

Timing is everything in life.  Just as those who came before us, we all have a ticking clock over our head.

Lately, I’ve frequented antique shops scouting out props to use for food photography projects and collaborations.  More than ever I feel a greater connection to the past.  I find it impossible not to think about the lives, conversations, relationships, tragedies, etc. of the previous owners as I touch, repurpose, and use their personal household items.

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My most recent excursion brought tears to my eyes when I stumbled across a beautiful wooden cradle sitting silently in the corner. That cradle belonged to somebody else’s Katherine, and the bond between a parent and child is timeless.  What was that baby’s story?  Did she have a long, healthy life, or did she die young from Scarlett fever, influenza, an appendicitis, or a rare disease?

Although many medical advancements have occurred since that cradle was made, it’s hard not to feel stuck in the past when doctors say they believe your child is slowly dying of a disease they cannot diagnosis or treat.  Intellectually, I grasp and appreciate the fast-paced nature of genomic medicine; emotionally, however, I fear my own daughter’s timing may not be on the right side of science.  Then again, children still die from influenza.

None of us can escape death or its timing.

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Silhouette of Katherine Belle by Clay Rice.

As I closed my eyes and filled my mind with the sound of giggles and the tender moments shared between a mother and her child, I was reminded that hope is the only thing stronger than fear.  Yes, I am afraid, but my hope and faith are much stronger than my fears.

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Fall Updates

No big surprise, but I am constantly struggling to find balance in my life.  As a caregiver who is navigating the rare disease world and ALL that entails, it is hard to find much time for myself (or to cook dinner for that matter).

I spend my days trying to keep Katherine’s little hands and feet as busy as possible, which is challenging for a child who cannot walk, lacks balance, and struggles with speech and fine motor skills.  Needless to say, I haven’t had much spare time to post lately, so I want to share some pictures of our fall here in Kentucky. As you will see from the photographs, Katherine is happy and loving our daily projects and adventures.

Also, our friend David Wheeler wrote a wonderful article about our family for The Motherlode blog in The New York Times – “When the Diagnosis is Rare, Parents May Know More Than Professionals.”  I encourage each of you to read it and share.  Thank you David for writing this important story.  We hope it will empower others in the rare disease community.

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A Letter to Myself – One Year Ago Today

Dear Glenda,

On this day one year ago, on a warm August morning, you took this picture of the sunrise en route to Katherine’s first MRI at Cincinnati Children’s Hospital. It looked so pretty and calming, didn’t? And you were searching for a sign of what was to come after a year of silently suffering over your worries for your daughter.

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I know you optimistically hoped nothing unusual would appear on her MRI – convinced yourself nothing was wrong; however, in a few hours – the longest hours of your life – your husband will take a phone call from a neurologist who will tell you something far worse than you have  imagined. In fact, you have not heard of the disease he believes Katherine has …he says it’s progressive and fatal…and when asked if there’s any hope, he says you need to “spend as much time with her as possible.” (You will say it’s a Mitochondrial disease, but you will later find out that all Mitochondrial diseases are metabolic, but not all metabolic diseases are Mitochondrial.  However, this is utterly confusing to you this day.)

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You are about to be knocked off your feet. The world will suddenly come to a screeching halt. You are not going to know your name or be able to feel your body. You are going to be physically and mentally numb. And you are going to feel this way for many months.

Somehow you will find the strength to stand back up. When you walk outside for the first time, you will notice the world is still turning, that people are carrying on like normal, that the sun still rises and sets. However, life will feel different. The mundane will become even more mundane. Everything will look different; even colors will no longer have the same shade as they once did. Life as you know will change forever.

Slowly, you will pick up your camera and focus on the frame in front of you. Life will get blurry, so you need to adjust your focus. Katherine will guide you through those early days. Your daily goals will be simple: eat, breathe, sleep, repeat.

You will experience many changes over the next year. You will have to quit your job, put your home on the market, and travel to many appointments and tests with Katherine. She will be given anesthesia three more times before her third birthday. You and Dave will decide that you will not try to have another child.

You will become fluent in medical lingo and very familiar with that disease whose name you cannot pronounce or remember. You will spend long, stressful hours at the Cleveland Clinic and learn to recognize the sadness on the faces of other families facing the unimaginable. You will carry KB from lab to lab to have her blood drawn and always inform each tech that it’s Katherine’s blood they’re drawing, not yours.

You will receive a rejection letter from your insurance company denying a genetic test.  You will learn that it’s easy for insurance companies to deny your claim because they think she’s going to die and don’t want to (and usually don’t have to) pay to confirm it.  Your husband will tell them the many reasons why this practice is wrong and they will decide to pay after all.

You will learn how to fight for your child.

You will learn the importance of enjoying every moment of your life, living in the present, and never taking another day for granted. You will grieve the life you imagined for yourself and your child. You will experience all stages of grief at varying times. You will suffer more than you knew was possible. And, you will wish it were you and not Katherine who has to face this horrible disease.

You are going to become a rare disease advocate – you will raise awareness, contact state and national elected officials, tell your story to anyone who will listen. You will meet other families walking a similar path and learn the names of their children; you will cry with their parents when they struggle and cheer when they achieve their own “inch-stones.”

You are going to study genetics and research everything you can about rare diseases, and you will share Katherine Belle with the world to put a face and a life to rare disease. Because of this, you are going to meet some really amazing people. You are going to receive kindness that you didn’t think was possible, not just from friends and family, but from complete strangers.

I know you feel hopeless, lost, overwhelmed, confused, scared and incredibly sad right now, but slowly you will find your voice and purpose. You will have hope – the type of hope that nobody will ever be able to take away or destroy. You will have faith that this journey is bigger than you – MUCH bigger – and even though you do not have the strength right now, you will find it, I promise. Your strength will wane, your faith will be tested, and your hope will diminish from time to time. I know you want to scream “WHY?” but in time you will learn this question is just another part of the journey.

And love. You will be enveloped by so much love. The world will pray for your family and your strength; they will pray for Katherine Belle; they will carry hope on their shoulders when you can’t feel it anymore or find yourself just too tired to go on. But, you will go on. As sure as that sun is rising in this picture, you will go on. You must go on. Katherine needs you.

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There is a message in this photograph after all – it just took a year to fully understand.

Love and courage,

Glenda (August 2014)

If you wish to donate to support Katherine Belle’s medical fees, please go to http://www.gofundme.com/hopeforkatherinebelle

 

Now What?

Now what?  That’s the million dollar question.

We find ourselves in that place where nobody wants to live.  A place somewhere between a 90% diagnosis of something horrible and untreatable and an unlikely diagnosis that your child has that disease.  No doctor calls to check on your child; no medicine is given; no advice is offered.  All you know is that your child’s condition is worsening, yet the medical world is silent.  You’re sent back home with nothing actionable except for the things you can research on your own.

There isn’t a single word I know that can adequately describe this place.

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At least everybody can agree on a few things: 1) Katherine’s MRI shows that whatever she has is spreading throughout her cerebellum; and 2) whole-exome sequencing is the next step and might lead us to answers.

Just one minute after reading Seth Mnookin’s New Yorker article, “One of a Kind” about the intersection of social media, genomics and rare diseases, I contacted Matt and Cristina Might.  It was not until that very moment that I realized (and truly digested) the crucial role we, as parents, play in diagnosing our daughter’s rare disease.  The Mights have been very helpful and introduced me to other families on a similar journey.  We hope to meet up with them sometime in the future, perhaps at the upcoming Global Genes Rare Patient Advocacy Summit in Huntington Beach, California (we are still in the process of deciding whether or not we can attend)?

In short, I have updated my current job status to “rare disease hunter,” which involves taking on Congress and encouraging each member to join the Rare Disease Caucus.  Just today I received a message that Representative Andy Barr (KY-06) is joining the caucus after reading our blog and letter I sent him.  Hooray!  Congressman John Yarmuth (KY-03) is also a member of the caucus.  Anyone want to help get the rest of the delegation on the Rare Disease Caucus? It only takes three minutes of your time to submit a request. If they are already on the caucus then your message will be sent as a “thank you!”  Simple.

Click here to ask your Representative to join the Rare Disease Caucus. (Mention Hope for Katherine Belle.  Send them to our blog at http://www.hopeforkatherinebelle.com.  Put a face to rare disease.  Tell them rare disease is a non-partisan issue.  Tell them it matters to you.)

In the meantime, in addition to contacting all family members and collecting every piece of genetic information available while reading “Genetics for Dummies,” I have decided to take a new approach to treating Katherine’s “unknown/untreatable” disease:

1.  Next Tuesday we have an appointment with a local Integrative Medical Expert who can evaluate her body as a “whole” and address nutritional and supplemental concerns, including the brain inflammation we are seeing on her MRI;

2.  Beginning last week Katherine had her first cranial-sacral therapy session, which she throughly enjoyed and said, “no shot” when it was over.  (I also noticed she was less shaky following this session!) For those of you who are not familiar with cranial-sacral therapy, it is “a form of bodywork focused on the concept of ‘primary respiration’ and regulating the flow of cerebrospinal fluid by using therapeutic touch to manipulate the synarthrodial joints of the cranium;

3.  We are very seriously researching the possibility of hyperbaric oxygen therapy; and

4.  We plan to take her to an immunologist at Duke.

Moving into fall, on October 6, 2014, we are taking part in our first whole-exome sequencing (WES) study at UNC – Chapel Hill. We also hope to do another WES test through Baylor once our insurance company tells us how much they will cover (crickets have been chirping since the end of June).

Results for these tests can take up to seven or eight months.

We continue to do physical and occupational therapy once a week.  I would also like to find the time to add some music therapy into our routine.  And, yesterday we signed the papers to put our house on the market…finally!

How Social Media Impacts Scientific Research

This article in the New Yorker is by far the most important article we’ve read to date that defines our purpose and hope for Katherine Belle.  Thanks to the Mights and Wilseys for confirming what we hope to achieve and proving there are other options than just waiting and hoping science “catches up.”  When parents are given no other option but to create websites and post articles with their genetic data to accelerate research and treatments for our dying children, there is a serious problem with the system.   We are an important part of the diagnostic team and can play a critical role in helping decipher the human genome.  My question is why aren’t more journalists talking about this problem?

Matt Might gave a talk titled “Accelerating Rare Disease.” After describing the effects of his blog post, he told the crowd that it was inevitable that parents of children with other newly discovered diseases would form proactive communities, much as he, Cristina, and the Wilseys had done. Vandana Shashi believes that such communities represent a new paradigm for conducting medical research. “It’s kind of a shift in the scientific world that we have to recognize—that, in this day of social media, dedicated, educated, and well-informed families have the ability to make a huge impact,” she told me. “Gone are the days when we could just say, ‘We’re a cloistered community of researchers, and we alone know how to do this.’

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Around We Go

On June 19, 2014, we were told a second time by a doctor that, in his opinion, he thinks there’s a 90% chance Katherine has Infantile Neuroaxonal Dystrophy (INAD). Once again, this opinion is based solely on her brain MRI.  However, (at this point) she shows no clinical signs (i.e. involuntary eye and muscle movement, muscle rigidity, etc.) of INAD.  We are still awaiting some results from her spinal tap. All other tests, including those that typically show abnormalities in INAD patients, have been normal except for her brain MRI.

Feeling confused by the certainty of the diagnosis based on the MRI alone, we decided to seek a third opinion, this time from an INAD expert in Oregon.  We sent her all of Katherine’s test results, MRI reports and images, medical history, etc. After a thorough review, she informed us that she thinks it is unlikely that Katherine has INAD.

Again, an expert in the family of diseases that include INAD says she thinks it is unlikely that Katherine has INAD.  Unlikely.  Unlikely is a far cry from a 90% likelihood.

Without getting too technical, Dr. Hayflick says the progression shown on Katherine’s last MRI is not the same as she’s seen in other INAD patients, and one abnormality is not one she has ever seen in an INAD patient. In addition (as we knew), the genetic test results for INAD were normal.  She also believes she should be experiencing clinical aspects of this disorder other than those directly associated with the cerebellar atrophy, which she is not.

So, where do this leave us?  Is this a cause for celebration? Well, we do not know what this means since she did not give us any alternatives.  Instead, she agreed that the next step should be the Whole Exome Sequencing for possible answers.  We are in the process of getting the test cleared through our insurance company (fingers crossed).  This test costs around $13,000.  Insurance may or may not cover some or all of the costs.  Test results take four months.

It is likely that this test is the end of the road for us as far as conventional medicine is concerned.  Few of the things Exome Sequencing might reveal have FDA-approved treatments – but “few” is better than “none.” Four months from now we may be left with this answer: we just don’t know right now.  Or, this test could uncover something other tests have missed – perhaps a disorder that is treatable. Perhaps it will reveal an atypical INAD, leaving us where we were last August and again last month.

For now, we must be patient, enjoy our precious moments with Katherine, and have faith in the things we do not understand. This journey continues to confirm my belief that Katherine truly is rare –  a living, breathing miracle who is spreading her joy around the world – and none of her doctors have ever seen another person with her condition.  We all seek answers under these circumstances, but for now they can only estimate with percentages as to what is happening in her body because they are not certain.   And, as uncomfortable as it may feel at times, uncertainty isn’t necessarily a bad thing.

After all, hope shines brightest in the darkest moments, right?

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Three

Don’t get me wrong.  I have hope.  I try my best to always live in the moment and enjoy each day at a time.  I know doctors don’t know everything or the path my daughter’s disorder will run at this stage. I hear from mothers all the time who tell me their child is still alive even though some doctor said they would only live until such and such an age…

That said, celebrating the fact that my darling Katherine Belle is turning one year older is bittersweet.  I also hear the stories from mothers who have lost their sweet angels. Some days it’s hard not to think about the future; some days the reality of our situation hits me especially hard, even at the most unexpected times, even something so simple as a party decoration can bring me to my knees.

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Unbeknownst to me when I ordered it, this birthday crown is very clever and cost efficient.  Instead of buying a new one every year, I can use the same one and just add a new number…you get the idea.  Unfortunately, this little crown brought so many tears.  Will she get to use every number?  Please let her use all of these numbers.
IMG_8819Once my tears dried, I knew that I had to give my girl the birthday she wanted.  With the help of so many, including friends who opened their home and hosted a party, her birthday was everything she imagined and so much more.

I asked her what she wanted and she consistently answered the same: pink balloons, chocolate cake, cookies, and a mermaid doll.

IMG_2322_2IMG_2350 IMG_2346 IMG_2397_2 IMG_2371IMG_2507IMG_2244_2She even received a very special chair of her own to enjoy while lounging by a friend’s pool this summer.

IMG_2417_2IMG_2586She received many birthday presents, messages, and greetings, even from people we’ve never met. Caring folks who just wanted to send her something special…
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