Tag Archives: Mitochondrial Complex 1

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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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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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.

 

 

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

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!

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.

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

NUBPL – Mitochondrial Complex 1

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

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

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The Spooner Family

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

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Cali, 16

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Ryaan, 6

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Katherine Belle, 3

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

NUBPL Gene – Mito Complex 1 (Diagnosed)

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

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

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

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

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

Her Knight Father-Daughter Dance

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

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

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

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

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

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

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

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Be Mine

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

IMG_4758Xoxo,

Glenda & Dave

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.