Kaylin is an Idaho Falls mom whose son Spencer has speech, occupational and physical therapy at Connections. We asked her to share Spencer’s story:
I’m a mom of three beautiful boys and one of them is Special Needs. Spencer was diagnosed right after his 6th Birthday June 2016 with a genetic mutation called STXBP1. It is very rare and we were told Spencer is one of two with exact gene mutation that we know of in the world. We have found other families that also have a mutation on the same gene, but not the exact same as Spencer. There are less than 300 children diagnosed with a similar mutation in the world. But we have been able to connect with some of these families and it has truly blessed our lives to have some answers as to why Spencer is globally delayed and non-verbal.
This gene is linked to infantile epilepsy and we were told that most children with this gene don’t survive past the age of 2. We are proving them wrong as are so many other families worldwide. This gene was discovered in 2008 so it is still fairly new and they are diagnosing more and more children as genetic testing becomes faster and more available for families.
Spencer first started having seizures at 7 weeks old. We knew that Spencer had infantile epilepsy, but we were hoping he would outgrow it, especially when we went two years seizure free and no other test results ever came back positive.
At age three, the seizures came back and for two years it was all trial and error with lots of doctors and more tests. In the beginning of 2016, the seizures were worse than ever and we were starting yet another seizure medication because of the increase of seizures. It was time to do tests again. I was spending all my spare time doing research on diseases and anything that might give us some sort of a clue on how to help Spencer. He was having anywhere from five and 40 seizures a month. They would make him lethargic and recovery was just as hard. It seemed as soon as he was recovered from one cluster we would have a week and then it would start all over again. We were being considered for surgeries for epilepsy to stop the seizures and our doctor decided it was time to do genetic testing. In June we got the call that he has STXBP1. The doctor told us not to even try to Google it as there isn’t really anything on it. He was right. I found one news article of a father who pushed his son in marathons and his son has STXBP1. That article said that he was one of 40 with the rare genetic mutation at that time. We were given one medical article on the gene and copy of his tests. That was all they had. Thankfully, through social media, I was able to connect with other families and their children. Through them we have formed our own support system and are able to see the other STX kids through videos and learn from each other as the medical world just doesn’t have it yet.
Spencer is the happiest kid ever! He rarely cries and just goes along with most things, but that is not to say he doesn’t have an opinion. He LOVES his apple juice, jumping on his trampoline, going on walks, and playing ball (rolling his yoga ball, dribbling balls on the tramp while jumping, and playing catch). He is often caught saying “Hey” and we love to hear his voice. He is continually working on fine motor skills and keeps showing progress. His latest love is the toy piggy bank and putting the money in the slot over and over. His persistence and will to keep trying is amazing. He is fighter and we love him.