Ned’s Quest: Developing a Treatment for STXBP1 Disorders

Hi. My name is Kevin, and along with my wife Erin, we have decided now is the time to share our story and ask for your help.

When youngest son 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 very wrong with Ned, and it wasn’t coming back on any of the usual tests. We spent a week, terrified. Then months, confused. Finally we had his genes sequenced and found an answer: Ned has a very rare and serious neurological genetic disease with life-changing consequences. 

Ned will have lifelong seizures, severe cognitive impairment, behavior problems, and motor control issues. He’ll need 24/7 care his whole life and may never talk. 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.

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. 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. 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. 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. These treatments could mean the chance for my son to tell me what his world looks like, the chance for him to run and play with other children, the possibility he could be seizure-free.

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

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

**For donations over $1,000 we prefer that payment be made via check, in order to avoid transaction fees. 

Please send checks to:

STXBP1 Foundation

128 Buxtonwood Place

Apex, NC. 27539