2022 Wrap Up and Look Forward
After my daughter, Juno, was diagnosed STXBP1, we were lucky enough to find five other families who wanted to start a foundation to create awareness and build research traction for this rare, truly devastating disorder.
In 2016 when Juno was diagnosed, there were ~200 kids in the world who had been diagnosed. Fast forward to today, and ~1500 people have been diagnosed with STXBP1-related disorders. STXBP1 is one of the top 5 diagnosed genetic epilepsies in children, and in the top 3 genetic diagnoses for adults with epilepsy. And it has an estimated incidence rate of 1:30,000. That's still very rare, as I explained in this post. But to put this in perspective: it's 13 kids born each day, somewhere in the world -- and 100,000 kids born in a 20 year period.
We're working hard to change the trajectory for all of these kids.
We held our first in-person Family and Researcher Summit since before the pandemic in August of 2022 in Philadelphia. Dr. Ganna Balagura presented my favorite slide, which I've updated below as progress continues. We've gone from a newly discovered disorder with 4 patients to an activated and growing community collaborating with industry and academia on multiple therapy programs.
It's tremendous progress but we still have so much to do. In order for any of these drugs in development to become approved therapies, we need to figure out how to measure improvement in our children. In 2021, we started a clinical trial readiness effort. In 2023, as part of our new 3 year plan, STXBP1 Fast Forward, we are formalizing this work to propel precision therapies and prepare for clinical trials, while supporting patients today.
As all this research is going on, Juno continues to grow older. She is now nine years old. When we got Juno's diagnosis at three years old, I promised her we would do something path-bending for her by the time she turned ten. Ten years old seemed so far in the future, but now it’s around the corner.
I firmly believe that SCIENCE + LOVE = CURE, and this is the way we are going to get to something path-bending for Juno and our entire community of STX'ers.
Please consider donating to help us with this important and urgently needed work.
-Charlene Son Rigby