The story of Jackie
When Alex was less than a week old, we had to rush him to the hospital because he was having dozens of tonic clonic seizures a day. Though an anti-seizure drug initially stopped the seizures, he would continue to return to the hospital several times over his first few months of life with recurrent tonic clonic seizures and the development of infantile spasms at 2.5 months old. It was a scary time for our family. Alex went from being a healthy baby boy to a child whom we weren’t sure if his seizures would ever be controlled or if he would make any progress in his milestone development.
We were lucky. His infantile spasms were caught early and his first line of treatment succeeded in not just eliminating the characteristic hypsarrhythmia EEG pattern but had no seizure activity seen on follow up testing. Today, Alex celebrates over 2 years seizure free. He does have significant delays in development, but we count our blessings. He is a sweet and happy child, and, through his genetic diagnosis, we have found a community of parents and caregivers who are knowledgable through their experiences and dedicated to providing the best life possible for their children.
To learn more about STXBP1 and to find some other ways to connect to others, visit STXBP1disorders.org.