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.
We need your support
We want to take a moment to give you an update on Katherine Belle.
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:
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.
Dave & Glenda
2 thoughts on “#GivingTuesday”
My son is 2 and he was diagnosed today with the NuBPL mitochondrial disorder. We had been previously diagnosed with Ataxia Telangiectasia so we are still reeling a little. I wanted to reach out because the Dr. Told us how rare this disorder is. Your daughter is beautiful and so brave! Thank you for your time.
Alison! Thank you so much for reaching out to me. We have been searching for families all over the world, so I am so glad you found us. Please send me an email at firstname.lastname@example.org. I want to share some information about our research with you! Best, Glenda