As many of you know, our son Luke was diagnosed with SCN8A Epilepsy around the age of 1. Since 2010 when the first SCN8A mutation was recognized as a cause for epilepsy, only 350 patients have been diagnosed with it around the world. Most children with SCN8A mutations have epilepsy that is resistant to treatment - they may have seizures every day and need to be hospitalized often. Other symptoms include learning difficulties, muscle spasms, low or high muscle tone, poor coordination, developmental delay, and features similar to autism. The extent of physical disability leaves some children able to make little or no voluntary movement. Most children will have trouble learning to speak, and some will need assistance from feeding tubes to get the nourishment they need to grow.
After joining the board of The Cute Syndrome Foundation, we have worked everyday to raise awareness of SCN8A mutations, help fund the dedicated and talented scientists researching SCN8A, and supports the families around the world who are affected by this disorder. The Cute Syndrome Foundation will not stop until we find a cure for this horrible disease. While we all we not be able to walk together in person this year, we look forward to seeing everyone virtually. We can not thank you enough for your constant support and look forward to one day finding a cure!