Tag Archives: NUBPL

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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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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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.

 

 

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.

NUBPL Foundation

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

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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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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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.

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.

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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!

A Father’s Love

If truth be told, my bond with Katherine came about slower than Glenda’s. In my defense, she had ten months of bonding while Katherine was in utero (whoever said it was nine months is a liar). And, if Katherine’s own childhood is any indication, Glenda also had a lifetime of practice nurturing baby dolls, changing their diapers, dressing them, feeding them and tucking them into bed with sweet kisses and “night-nights,” groundwork for this specific mother-child bond.

As for me? Well, before Katherine, I had zero experience changing diapers, dressing, feeding or holding an infant. My “doll” experience consisted of Mego Hulk smashing Mego Superman over the head with my sister’s doll house in an epic battle for the ages – or at least the most epic battle since yesterday’s.

As far as the pregnancy part of fatherhood was concerned, I spent it with a feeling of complete uselessness and “getting-in-the-way-fullness.” Then, suddenly (or so it seemed to me, though an eternity to Glenda) there Katherine was, screaming at me.

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She seemed so small and fragile – except for the screaming at me part, which seemed large and dangerous. She quickly let me know that my ten months of uselessness were not ending with her birth, just taking on a new form.

It seemed wholly irresponsible of the hospital, but after a day or so, they sent this little stranger home with my recovering wife and me. I hoped that “rear her to be President and Nobel-laureate” was the standard Glenda was setting for her care of Katherine, but my personal standard of care at this time was “just keep her alive.”

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Don’t get me wrong, I would have run into a burning building to save Katherine from the moment she was born, but, as I said, our true bond had to develop. At first, we were strangers looking at each other; me trying to figure out what to do, and she trying to figure out where mommy went and why mommy had left her with this well-meaning boob (and not the kind that then dominated Katherine’s thoughts).

I cannot tell you when the bond was formed, but I can tell you the moment I realized it had. I was changing Katherine’s diaper and making funny faces at her, hoping for a grin.  Then she laughed.  Not an “is it gas” smirk, but a full-on belly laugh. The kind of laugh Glenda has (for the record, Glenda does not have an “is it gas” smirk, only a full-throated laugh). I literally jumped in the air out of excitement (I use “literally” correctly here, as I did, in fact, jump). I had heard and made an angel laugh. I called my wife, who didn’t understand my excitement. It was just a typical day to her, but I was struck by the knowledge that at some point during those early sleepless nights, between diaper changes, while soothing tears and dodging projectile vomiting, I had fallen hopelessly in love with this little girl. At that moment, I became “daddy” — and to the most wonderful girl who has ever been or ever will be, no less.

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Since then, our bond has only grown.  I find myself rushing home from work with barely contained excitement at getting to see and play with her. The best part of my day is when she hugs and kisses me when we put her to bed. The second best part of my day is when she greets me coming in the door from work with her hands in the air like she is signaling a touchdown, screaming “Daddy’s home!” When she refers to herself as “Daddy’s baby girl” I am filled with joy and pride.  When she leans against or rests her head on me while watching Daniel Tiger, my seconds stretch to infinity; in those moments, all is right with the world and I am calm.

Katherine nurtures me. When she eats, she takes a bite, then offers one to daddy, feeding it to me by hand.  Katherine offers me blankets and her beloved stuffed bunny named Bibi to hold (she has a many stuffed bunnies, all of whom are named Bibi: Bibi; Other Bibi; New Bibi; Itty Bibi; Other New Bibi; and Other Itty Bibi).

Katherine takes comfort from me when upset, frustrated or hurt, and listens to me when I tell her she needs to do something. But Katherine also orders me around like a trained pet. “Daddy fix it!” “Daddy get wawa!” “Daddy throw ‘way lady bug!” (she has taken an aversion to the lady bugs that occupy our house and thinks I throw them away in the trash).  And, most often, “Daddy sit!” (pronounced in an exaggerated southern drawl as a two-syllable word, “see-it”) followed by her pointing to some location where I am supposed to do so. On “Daddy days” (when mommy sleeps in and daddy takes the helm for the morning), she likes to comb my hair and put bows in it, she tells me what she wants to wear (usually something Glenda has told her I would like) and tells me which items of my own outfit need to be changed.

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My days are filled with tea parties with that warren of stuffed Bibis and a baby doll named “Baby Blue Eyes.” I am a jungle gym. We play hide and seek and peek-a-boo. She hides her toys then asks me where they are with an exaggerated hand gesture, palms up and shoulders shrugged, followed by us looking frantically in places they obviously cannot be, acting mystified that they are not there. She wants me to chase her (crawling, not walking) and lift her up when I catch her (preferably upside down), over and over, cackling with laughter the whole time, until I give out (I need to do more cardio and curls — and by “more” I mean “any at all”). I am audience to her first choir performances.

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And my days are filled with dance. I hold her hands for the support she cannot give herself, and then she crouches and stands, crouches and stands, her head bobbing up and down. Sometimes it is to music we both can hear. Sometimes it is to music only she hears. These are bursts of pure joy, accompanied, music or no music, by her laughter. And always it comes with screams of “Dance! Dance!” and, of course, orders of “Daddy Dance!”

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My wife has often commented that she never remembers me laughing like I do with Katherine. I didn’t. Katherine brings out laughter that I have never had. Not chuckles, but raise-the-roof, tears-in-your-eyes belly laughs — an echo of the laugh I first heard from her that day at the changing table.

Daddy is Katherine’s comforting plaything. I am her biggest Bibi. I am nurtured and loved, just as I nurture and love her in return. My love for Katherine is different than any I have felt before or knew existed. It is unconditional and boundless, life-affirming and life-changing.

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I barely remember my life before Katherine and cannot imagine my life without her.

Then I got the call that told me I had no choice but to start imagining it; the physicians told me that Katherine was going to die. As I hung up the phone and went inside to tell all of this to my wife, my mind reeled with horrifying thoughts: Some day – it seemed soon — I would come home from work and she would be unable to raise her hands in that “touchdown” greeting; soon after, she would no longer be able to shout “Daddy’s home!;” no more crawling on me like a jungle gym; no more crawling away from me in chase; no more feeding me her food; no more eating it herself; no more peek-a-boo, or hide and seek; no more ordering me to “sit!;” no more night-night hugs or kisses; no more laughter;

And…no more dancing.

In a prior post, my wife told you that she did not express all of her fears to me in the months leading up to Katherine’s MRI. If this was to protect me from fear, it did not work.  I had plenty of fear. I knew something was wrong.  I saw a tremor in Katherine that no one else seemed to see or else dismissed. I saw the plateau in her development.  I saw the lack of balance.

My Google searches between Katherine’s first birthday and her MRI appointment a month and a half after her second were filled with things like “causes of ataxia and intention tremor in an infant;” “hypotonia;” “symptoms and causes of cerebral palsy;” “genetic causes of developmental delay;” etc.; and etc. I furtively searched the Internet, like a husband hiding something racy, but this was much worse. I was hiding my fear that Katherine had a serious medical issue. I hid it to shield Glenda from unnecessary worry, although – maybe because — I knew she already carried worries of her own.

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Don’t get either of us wrong. We spoke of our concerns and fears. We just did not voice their full extent, if we even comprehended them ourselves.

By the time we went for that MRI, I had convinced myself that Katherine had cerebral palsy. If so, the underlying brain injury would not be progressive. With PT and OT, I hoped she would one day be able to “re-wire” her brain so she could walk…and dance.

During part of the MRI process, my wife was allowed to stay with Katherine, while I was kicked out to the waiting area by the doctors (only one parent is allowed to accompany a child). I wandered aimlessly, until I saw a little chapel.  I have always found such places peaceful, so I went inside. I glanced at a prayer book and read a couple of the fear-filled prayers of other families. This was a children’s hospital, so they were all from other parents about their own “Katherines.” Many were facing far worse than the cerebral palsy I was sure Katherine had  … maybe had … feared she did not have … please, let her have. My mind went to my year of late-night “Googling” fatal conditions. I wrote in the prayer book “Please take care of Katherine. She is EVERYTHING.” I turned to walk out, but couldn’t. My hands started to shake. I had to sit down, but the pews were too far.  I sat on the floor, my back against the wall and cried unsustainable, hysterical sobs. Cries I did not know I had in me until exactly that moment. Tears I had never before cried.

Then I said something that I had never consciously thought, “please let me dance at Katherine’s wedding.”

I calmed myself, dried my tears, and walked into the waiting area, just as Glenda was walking into it, too.  I spent the rest of the day trying to comfort and reassure her, until I got the horrible call and had to cause Glenda more grief than most people can imagine. “Glenda, she is not alright, they say she is going to die.” I then spent the rest of the night and many days since trying to console an inconsolable, grieving mother, while finding a way to get through my own days, working, playing with Katherine, breathing, eating, and trying to maintain my own weakening grip on sanity.

Katherine’s continuing laughter has made these things possible.

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That first time I asked to “dance at Katherine’s wedding,” the thought seemed simple. I wanted Katherine to be on her feet, able to walk and to dance.

In the days since, I have uttered these words many more times. Usually, I do so when I am on my knees, again crying unsustainable, hysterical sobs. Other times it is just a whispered incantation, my mantra.

It now means something different than it did that day. It is not that I want Katherine to be able to walk and to do so easily enough that she can dance. I do want these things, but my perspective has evolved. I no longer need these things.

It now means that Katherine is alive. It means that she is happy. It means that she has found love. It means that she still has those things that make her so special. It means I am blessing her union with a person who sees them, too. It means that she has someone to love her after I am gone. It means that the proper order has been restored to the universe; one where my sweet, smart and beautiful child lives on after me.

And that dance?  I no longer care what form it takes.  I do not care if she is dancing on her feet, or in a wheelchair. I don’t care if it is a head bob. I just want to see her happy on her wedding day, squealing “Dance! Dance!” and ordering “Daddy dance” one last time before someone else takes her hands.

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Katherine, my dear baby girl, I will hold your hands, support and dance with you all the days of our lives together. But, please, please, baby girl, let me dance with you at your wedding.

You can follow Katherine Belle’s story on Facebook.

 

 

 

A Mother’s Death and Resurrection

In August 2012, just one month after Katherine Belle’s first birthday, I found myself sobbing hysterically in my doctor’s office following a series of scary panic attacks. “Was there much stress in my life?” she asked. “Yes,” I responded. “My grandfather recently passed away and the chief of staff at work had suddenly died just two days ago.  And…and I am worried about my daughter.”

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At daycare, Katherine Belle made her mark in the nursery as the fastest crawler of the bunch, even earning the nickname “Flash” for her speed. She was reaching developmental milestones ahead of time and I recall worrying that she would be walking as early as nine months.

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Instead, as the months passed, I watched her peers, and eventually younger children, take their first steps while my daughter continued to crawl at their feet.  I felt silly to worry.  After all, she was only 13 months old … then 14 months … then 15 months.  Many moms reassured me that their own children did not walk until later. My husband’s aunt did not walk until she was almost two. Research reassured me that walking as late as 17 months was within the normal developmental range.

“Any day now…” and “you will wish she was not walking when you are chasing her all over the place” were common phrases I heard during this time.  When she still was not walking by 15 months old, I decided to seek the assistance of physical therapy. I silently struggled greatly during this time. My motherly instincts told me that something was not quite right.  Despite weekly visits to occupational and physical therapists, she still was not walking as she approached her second birthday.

I sought solace in the outdoors, taking daily walks on my lunch break at work to observe and photograph the beauty around me.  Only then was I able to stop worrying and enjoy a moment of peace. Photography was my therapy, my outlet, my voice. I looked for hope everywhere and would take a photograph to remind myself that hope existed and was right in front of me; however, I needed my camera to show me.

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But still, there were many lonely, stormy days.

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I did not want to worry my husband too much with my fears.  Truthfully, I could not even say what I feared, except that I just had a feeling that something was wrong.  What, I did not know? I held out hope that she just had low muscle tone, which she obviously had. And sensory processing issues, which she had as well. But as she approached her second birthday, I began to ask myself the really hard questions.  Why wasn’t she walking?  Would she ever walk?  Is there something more we should be doing? Is there a more serious underlying issue?

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At her two-year appointment in July, her pediatrician nervously said, “And now for the hard stuff of today’s visit.  I am concerned that she is not walking independently.  Did you have a difficult birth, any head injuries or an accident?”  “No,” I responded with a lump in my throat.  “Well,” he continued, “I want to refer you to a neurologist just to be sure. She really should be walking at two years old.”

In August, we met with two neurologists and told them her history.  They agreed it best to perform an MRI in a couple of weeks to see if there was anything going on in her brain.  We were out of town and decided to visit the local zoo the next day to lighten the mood and have some fun.

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It was blistering hot that day, so I took Katherine Belle to stand in the shade while my husband stood in a long line for tickets. We were sitting on the curb when a young man in a wheelchair looked over at us and backed up beside us.  His name was Donny and he asked how we were doing.  We made the usual chit chat about the weather and the zoo.  He asked where we were from and why we were in town. I told him we were visiting the local hospital because our daughter could not walk and we did not know why.  He shared his personal story with me.  There were terrible complications during his birth. He died briefly before being resurrected.  His mother struggled.  There were many surgeries. His life had been very difficult, but he was alive and telling me his story. He had strong faith in God and believed there was a reason he had been brought back to life.  His body may have been paralyzed but his mind was sharp and he was very articulate.

Then he said something to me that I will never forget: “I knew you were a kind soul and that you would not be afraid to talk to me because of my condition. I believe God put us together today so I could talk to you.”  Lastly, he looked me in the eyes and said, “Everything is going to be okay.” A moment later his guide came up with their tickets and he was gone.

I sat on that curb and cried. I cried so hard that I could barely breathe.  I felt as though Donny was the first person who truly understood how much I was suffering — even more than I realized. At that moment, out in the open and in front of a very crowded zoo entrance, I let it all go. A year’s worth of worry and anxiety flowed out of my body.  My husband soon appeared and took me to the gift shop where I was able to gain some composure.

In my husband’s January 27, 2014, post, “Faith. Hope. Love.,” he describes what followed next:

On Friday, August 30, 2013, I received a phone call that would forever change my life and the lives of my beloved wife, Glenda, and daughter, Katherine Belle. Medical terminology and nuance aside for the moment (medical terminology and nuance will fill future posts), the call was to tell us this: your daughter is going to die. This was not in some philosophical sense that “we are all going to die,” or a homily that “no one is promised tomorrow.” It came with a medical explanation of how she was currently dying, and the only promise was that tomorrow — or tomorrow’s tomorrow — would never come for Katherine.

I had prepared myself for bad news, but nothing prepares a mother for the news that her child is going to die of a rare genetic disorder.  Now I fully understand why the mind erases tragically painful moments.  The pain is enough to kill a person.  As my legs gave out beneath me, I fell to the floor in utter despair and heartbreak, screaming at the top of my lungs that this was not really happening, I have no doubt that a part of me died with this news.

I do not remember much after that moment (and would not remember much of the next few months), except looking over at my daughter on the floor beside me and seeing her sweet smile.  I felt dead and was told she was going to die, but she was alive in that moment. She was hungry. She needed her diaper changed. She wanted to hear a bedtime story and hug mommy and daddy before going to sleep.  A voice told me that I had to stand up and take care of my daughter.

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I let Katherine be my guide each day.  I would ask her what she wanted to do and we simply did it.

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Each day became a little easier and my breakdowns came less frequently. Once again, I turned to my camera for comfort.  When I looked into the lens, I was living in that frame.  There is no tomorrow in that moment; just that second captured for all time.  I can blur out the background and focus on my daughter’s smile, the twinkle in her eyes, the space between her two front teeth, the dimple in her cheek or her little hands splashing in the water.  The world stops and I am at peace.

At the end of each day I download my photographs.  They show me a happy girl.  Despite my grief, I see that I am giving her the life she deserves.

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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.

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The past few months 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.

Part of me died in that Cincinnati room, but I find myself resurrected. I am a new person with a new perspective — and I have the sweetest little girl to guide me in my new life.