This is a little portion of our journey with STXBP1, before and after receiving the diagnosis. On 3/10/2017, we learned that she has a gene mutation on STXBP1. We knew early on, when she was about 1 years old, that she was not developing properly and immediately began therapy. Over the years she received many diagnoses that described her symptoms, but the actual diagnosis did not come until she was almost 14 years old.
This video is a fundraiser campaign to raise money for STXBP1 research through the STXBP1 Foundation. The link to the fundraiser is: www.gofundme.com/f/kikis-stxbp1-cure?+share-flow-1