#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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#TogetherWeFightMito

I’ve been fortunate to have found my “mitochondrial disease mom tribe” through various online support groups, and recently we started brainstorming ways to raise more awareness to fund research.

Although our children fight different types of mitochondrial diseases, we all share similar stories. We’ve all looked into the tear-filled eyes of doctors telling us our babies are very sick, that the disease doesn’t have any FDA approved treatments, no cures, and that we should spend as much time with our children as we can.

Watching our children battle progressive diseases with no treatments or cures is soul-crushing. However, there are several wonderful mito organizations and online patient communities for support, loving and dedicated mitochondrial disease doctors who treat us and guide us, passionate researchers dedicating their lives to cure it, and fierce advocates who help us raise awareness around the world.

And, there’s hope.

Hope that the most common disease most people have never heard of becomes a household name; hope that people realize that curing mitochondrial dysfunction helps us all; hope that this becomes the next frontier of medicine; hope that the world can come together to raise our collective voices to fund mitochondrial disease research before our children die.

Mitochondrial dysfunction exists in all chronic diseases, and is the cause of many familiar diseases, such as Alzheimer’s, Parkinson’s, Autism, ALS, Huntington’s, muscular dystrophy, epilepsy, chronic fatigue, diabetes, fibromyalgia, and cancer. It is a major factor in all problems associated with aging – loss of muscle, declining eyesight, lack of energy, wrinkling, inability to heal, mental decline, and organ failure. Someone in her 70s has only about 20% of the functioning mitochondria she has in her 20s. That’s why research is important for everyone, not just our children. Everyone will have mitochondrial dysfunction eventually, so if we learn to boost their function, to boost the healthy mitochondria, or stave off the detriments, it could be a breakthrough for all of us.

We are just parents trying to save our children. It’s really that simple. Each day we shout out our stories to anyone who will listen with the hope that today will be the day that the world listens and funds this critical research.

One day, not long ago, one of the moms from our group was discussing how the recent international attention for a very beloved mito angel made her feel less alone in her own journey, when a lady responded with a simple, yet powerful hashtag, #TogetherWeFightMito.

And from that meaningful hashtag, the Together We Fight Mito awareness campaign was born. A dozen parents, and one mighty advocate, banded together online and across continents to design a global platform that unites and energizes the international mitochondrial disease community to come TOGETHER to harnesses the passion and determination of every mito patient and advocate around the world. Together, we fight mito. Together, we cure mito. #TogetherWeFightMito

Our greatest hope is that everyone will become advocates for mitochondrial disease. This campaign is on-going, so we hope the momentum built this week will continue to grow in the coming months.

We are asking families to share photos with us of their loved ones fighting mitochondrial disease so we can show the many faces of mito. We are also asking both public figures and regular folks from around the world to come together and share photos of themselves holding #TogetherWeFight signs and donate $1 (or more) to fund research.

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Remember the ALS Ice Bucket Challenge? Of course you do! These seemingly silly challenges not only raise awareness, but they also produce results. Three scientific breakthroughs resulted from the ALS Ice Bucket Challenge. We need something similar for mitochondrial disease and the time is NOW to make that happen.

So grab your markers and paper, and make a #TogetherWeFightMito sign to hold while you snap your selfie. Then, copy and paste this message with your photo and post it on your social media accounts:

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I just accepted the #TogetherWeFightMito #Selfie challenge and donated to fund critical mitochondrial disease research, and I challenge YOU to do the same.

1) Make a #TogetherWeFightMito sign and take a photo holding the sign
2) Follow Together We Fight Mito at https://www.facebook.com/TogetherWeFightMito/
3) DONATE $1 or more to fund critical #mito research. Tax-deductible donations here: https://www.umdf.org/togetherwefightmito
4) POST YOUR photo (make sure the privacy setting is PUBLIC)
5) CHALLENGE FIVE friends and TAG them to do the same
COPY & PASTE  this message when you share your #TogetherWeFightMito #selfie
Let’s raise our voices TOGETHER! Together, we fight mito. Together, we cure mito. #TogetherWeFightMito

This campaign was launched one week ago today. This has been the response so far:

 

Follow Together We Fight Mito on Facebook and Instagram.

Photos can be upload on the Together We Fight Mito Website

Together We Fight Mito Campaign in the News:
Family raises awareness as daughter fights rare disease
Georgetown family’s fight against mitochondrial disease

Click here to purchase a #TogetherWeFightMito (Proceeds fund research)

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Mitochondrial Disease Awareness Week 2017

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

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

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

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

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

Right This Minute (Viral video show)

Nieuwsblad (Belgian newspaper)

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

Ways To Help Us Raise Awareness

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

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

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

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

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

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

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

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

The Liebster Award

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

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

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

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

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

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

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

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

Dave:

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

Glenda:

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

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

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

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

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

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

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

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

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

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

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

Our 6 nominees for the Liebster Award 2017:

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

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

Our Questions for Our Nominees Are:

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

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

xo,

Glenda & Dave

Katherine Belle Walking, Age 6

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

 

 

2017 Bi-Annual Report

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

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

It is soul-crushing.

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

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

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

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

2017 Bi-Annual Report

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

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

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

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

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

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

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Kentucky Gives Day 2017: Support NUBPL Foundation

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

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

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

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

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

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

Our daughter and other affected children deserve better.

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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