4 years ago, I had never even heard of Syngap1. Honestly, I didn’t even know it existed. Little did I know Syngap1 had been part of our lives since Patrick was born in 2003. What I did know was that Patrick was our puzzle. There were speech delays, motor delays, seizures. Thankfully, his seizures were mild and seemed to be well controlled with medication. While we always continued to look for answers, we were resigned to the fact that in so many cases, there is no identified cause for epilepsy. Our goal was always to help Patrick live the best life possible & to be as independent as possible. This all changed in April of 2020 when Patrick experienced a dramatic change and began having grand mal seizures, which led to further testing and eventually his Syngap1 diagnosis.
While Syngap1 is genetic, it’s not something he inherited from either of us. It was simply a spontaneous partial deletion in one exon of his Syngap1 gene. When he was first diagnosed, he was just one of around 1000 people worldwide. Thanks to the efforts of the Syngap Research Fund – SRF, there are now 1400 patients diagnosed worldwide. While many of these continue to be children, there are more and more adults diagnosed.
What’s crazy is, even though we have this diagnosis & this amazing group to be a part of, Patrick is still rare among the rare. While his speech and motor abilities aren’t as impacted as many of those with Syngap1, his grand mal seizures have had a greater impact on all of our lives. We originally planned for this to be his last year of school, but his seizures were so frequent a year ago, that we agreed to the decision to officially graduate from Penta and transition to adult services. This quick transition meant he was home full time from May through October when he was finally able to transition into an adult day program. As always with Patrick, transitions are tough. Thankfully, his program has been wonderful! He has been able to build independence and gaining confidence being away from his family, especially his mom! He is able to earn money working part of the day, socialize with others (even though most are older than him), and he’s been able to go on several outings. Some are as simple as a trip to Walmart, but he’s also been to the Imagination Station and a Walleye game! This has been a huge win for him and we are so thankful. His VNS also seems to be working and while his seizures may never completely go away, for now they are more manageable.
It’s so hard to believe that it’s already time for another Sprint for Syngap! All of a sudden April is here. I have slacked off a bit, mostly trying to figure out how we were going to manage our walk this year-since the official walk date just happens to be his sister Ella’s 16th birthday. Our lives are so often driven by Patrick's seizures and his health needs, I really want to give her this special day. So while the official Sprint for Syngap date is April 27th, our family will be walking the following Saturday May 4th. Personally I’m also hoping the weather will be a little warmer a week later 😉.
Thank you so much to everyone who has supported us by donating in previous years. We are so thankful for the work SRF does to bring awareness and further treatments for those with Synap1.
Link for #TeamPatrick shirts (they really are super comfy!)
