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Hi. If you don’t know me, my name is Kevin. Along with my wife Erin, we’ve decided now is the time to share the story of our 5 year old son Ned and ask for your help. https://donorbox.org/finding-a-cure-for-stxbp1-disorder-in-honor-of-ned
When Ned was seven weeks old, his eyebrow started twitching. Then his face. We were sent to the hospital, where he went into epileptic status, and doctors noticed that his muscle tone was oddly low.
Something was wrong with Ned, and it wasn’t coming back on any of the usual tests. We spent a week in the NICU, terrified. Then months, confused. Life went on, but he just kept missing developmental milestones.
Finally we had his genes sequenced and got the answer every parent fears: Ned has a very rare and serious neurological genetic disease in the STXBP1 gene with life-changing consequences. It’s so rare it doesn’t even have a name.
Ned will have lifelong seizures, severe cognitive impairment, behavior problems, and motor control issues. He’ll need 24/7 care his whole life -- feeding, diapers, everything -- and may never talk. All because of one random mutation among the 3 billion DNA base pairs.
The STXBP1 gene is responsible for a brain protein that helps neurons function. A single, random mutation means that protein isn’t made correctly. Currently, there is no treatment or cure. https://medlineplus.gov/genetics/gene/stxbp1/
None of this is fair. I’ve had 2 years to process this diagnosis. It’s been impossibly hard. Every day has been a struggle, filled with worry and empathy for my special needs son. What’s in our future? What are we going to do?
But with each passing day I become a little stronger, a little more resilient, and a little bit better of a human being. The rest of my life is dedicated to helping him. I hate the feeling of helplessness when I see the fear in his eyes as he is having a seizure.
I don’t like sharing publicly and I’m no good at asking for help, but today, I’m sharing my message in order to ask for your help in raising money to directly accelerate finding a treatment.
STXBP1 research is rapidly growing. The gene was only discovered in 2008. Three years ago, the STXBP1 Foundation was formed, with the goal of finding a cure for this disease. In 2017, only a handful researchers were interested in STXBP1. https://www.stxbp1disorders.org
In June of 2019, the first researcher and family meeting was held, with over 45 researchers and 200 attendees! Multiple real, actual treatments are just around the corner, something unthinkable only a few years ago. https://www.stxbp1disorders.org/conference-sifm-2019
A very exciting possibility of a new drug has been identified by one of the groups at Weill Cornell. Another researcher has identified several antisense oligonucleotide (ASO) candidates that are currently being screened in a commercial partnership.
Finally, some real hope is on the horizon! To support essential research and development programs, and to get ready for clinical trials, we are partnering with the STXBP1 Foundation to raise $150,000. This money is critical for making progress towards a treatment.
Today, I am personally donating $25,000 to kick start this campaign. It would mean so much to me if you could help. https://donorbox.org/finding-a-cure-for-stxbp1-disorder-in-honor-of-ned
These treatments could mean the chance for my son to tell me what his world looks like, for him to run and play with other children, and maybe stop the seizures.
Donate what you can. Share this message with your networks. Donations are tax deductible, and many employers will match. Thank you. 
If you’d like to learn more, here are a few references:
https://www.stxbp1disorders.org
https://www.chop.edu/conditions-diseases/stxbp1-related-disorders
https://medlineplus.gov/genetics/gene/stxbp1/
https://www.stxbp1disorders.org
https://www.chop.edu/conditions-diseases/stxbp1-related-disorders
https://medlineplus.gov/genetics/gene/stxbp1/
All of us parents have similar stories. Here are some. https://www.stxbp1disorders.org/blog/our-life-with-epilepsy
https://www.chop.edu/stories/lucy-s-story-going-all-cure-rare-disease
https://www.chop.edu/stories/lucy-s-story-going-all-cure-rare-disease
Only 24 hours later and all of you wonderful people have nearly doubled my initial contribution. I’m speechless. THANK YOU 
