3.5 years old
Nathan, will be 4 years old in June 2021. Since he was born, he has been a sweet, observant, and happy boy – his whole face lights up when he smiles, and his laugh is adorably contagious! We saw early on that he was missing milestones but it wasn’t until we introduced baby food when he was 6-8 months old that we realized he had trouble swallowing. This was our first real indication that something was wrong. Since then, we have been tirelessly trying to figure out what made Nathan different.
Shortly after we entered our 2020 national lockdown my husband and I noticed Nathan would occasionally blink/roll his eyes back when he ate. It would happen so quickly and infrequently that I wasn’t able to catch it on video until August 2020 – by this time it was occurring a little more frequently. An EEG revealed that this was in fact epileptic activity. A genetic test was run for epilepsy-specific mutations and on December 15th we learned that Nathan has SynGap1. As we read about its presentations, we realized that Nathan had been displaying nearly every marker for SynGAP1 since he was 6 months old, but due to its rarity and relative recent discovery, wasn’t diagnosed (there are fewer than 800 diagnosed SynGAP1 patients worldwide as of March 2021).
Because of Nathan’s difficulty swallowing, he has been receiving feeding therapy since he was about eight months old. That quickly led to speech therapy since his muscles weren’t strong enough to perform the tasks they should. Physical therapy and occupational therapy were added due to his global developmental delays, low muscle tone and missing milestones. He has about 80 words but no consistent phrases. He is very attentive and understands so much more than we realize. He follows simple commands, even when asked to do things he’s not been asked before. True of other Syngapians, Nathan loves anything to do with water and escaping. We have found him fully clothed in the bathtub and shower and he has escaped the house into the backyard many times via our Great Dane-sized dog door!
My hope is that Nathan’s diagnosis informs more providers (and people in general) of SynGAP. I also hope that my advocacy for and dedication to providing the best care for Nathan not only raises awareness, but money for research for this and other rare diseases – both from private donors and governments.
As a newly diagnosed family, the hardest part of a SynGap diagnosis is mourning the life you thought your child would lead. Once you realize that you are not alone in this journey – SRF is a huge support for us – and that there are gains to be made for your child despite how hard everything is, you will find the strength to do whatever you can possibly do to support your child. I am excited by the pace of medical advancement and am confident we will see benefits for all of our children soon.