My dear childhood friends are devoting all of their love, time, effort, patience and finances into helping their 2-year-old boy, Timur, with his condition. If you are able to help in any way at all, please do. Any donation will go a long way and help them immensely, and any share to spread the word is greatly appreciated! Here is a letter from his parents (Natalia & Rustam):

At the age of one, Timur was diagnosed with a pathogenic variant in the STXBP1 gene, leading to Early Infantile Epileptic Encephalopathy Type 4 (EIEE4), confirmed through genetic analysis. EIEE4 (also known as Ohtahara syndrome) is a severe neurological disorder that causes seizures in babies. As a result, he experiences significant delays in motor and cognitive development. This condition is extremely rare. At present, we have not yet achieved full seizure control, and we are in the process of optimizing his anti-seizure medication regimen. He is also undergoing courses of hormonal therapy, and we are considering initiating a ketogenic diet, which requires strict medical supervision. Despite these challenges, Timur works diligently every day with rehabilitation specialists, physical therapists, speech therapists, and developmental specialists. He also attends hydrotherapy sessions, music therapy, and a Montessori group. Over the past year, we have explored rehabilitation programs, which have contributed significantly to his progress. There is currently no definitive cure for STXBP1-related disorders, but clinical outcomes vary among children. Our goal is to maximize Timur’s developmental potential— helping him learn to sit, walk, and communicate. Despite his diagnosis, Timur is a bright, cheerful, and curious little boy.

All of the specialists and treatments mentioned above are extremely costly. We would be immensely grateful for any support at all. Thank you!