Kyle was diagnosed with SYNGAP1 in July of 2020. We honestly didn't think we would ever receive a diagnosis that would explain all of Kyle's symptoms. He had had several genetic tests (with negative results) when he was younger, but SYNGAP1 had only been discovered when Kyle was just three years old, so he was never tested for this genetic disorder until last summer, when his neurologist and geneticist suggested that we test again. Kyle has hypotonia and didn't walk independently until he was 3 years old. He is nonverbal, but uses a few signs as well as a Speech Generating Device, to communicate basic needs and wants. He is not yet potty trained, but we are currently working hard on teaching him. Kyle has atonic seizures and the onset of his epilepsy was just before his 2nd Birthday. Kyle has had speech, occupational, and physical therapies since he was a few months old. He has also participated in Hippotheraphy, which he loved. He attends a private school for children with special needs where ABA Therapy is used. Kyle loves to look at books, loves attention and cuddling, has an amazing memory, and the most contagious laughter!
We love spending time together, but the focus tends to need to be on our Syngapian in order for all of us to have a good time! Kyle loves swimming, going to playgrounds, and taking rides on elevators and on our golf cart. He also loves covered bridges, so our family has visited quite a few in our area. When Kyle is doing any of these things, he experiences pure joy.
Kyle needs full assistance and care 24/7 and, at times, my husband and I are overwhelmed, emotionally, not sure of what his future will look like. We hope that he continues to progress with his speech device so that he can communicate even more with us. We are excited to finally have a diagnosis so that we can connect with other Syngap families and learn from them, but also to help other families who have children who are younger and recently diagnosed.
I would tell newly diagnosed families to connect with others who have children with Syngap for support and hope, and advice on various things (such as potty training, communication, therapies, etc.) I would tell them that their life is going to have challenges and difficulties, but also much joy and happiness. If they not only focus on their child and the support he or she needs, but also to focus on themselves and get the support they need as the parents and caregivers of their Syngapian.
Kyle’s mother Kelli has a wonderful website where she writes and shares videos of Kyle to encourage other parents and remind them that they are not alone: KelliMcIntosh.com