We started noticing Teddy's seizures in the Spring of 2021, when he was 3 years old. The seizures were so bad that he could not take more than a few steps at a time without falling over. He had a local neurologist that said that they were not seizures and he was seeking attention. That immediately made me concerned with the care he was receiving and rushed him to CHOC (Children's Hospital Orange County). They admitted him and ordered a 24 hour EEG. He didn't even need the full 24 hour EEG when they noticed he was having hundreds of seizures in an hour. We spent 8 days at the hospital trying to find the right medications to minimize the seizures. It was during that stay that we knew that it was much more than epilepsy and they ordered genetic testing.
My hope is that Teddy can live a fulfilling life and hopefully get a better handle on his seizures. I hope that one day I get the privilege of hearing the simple words of "I love you, mom". I hope that research continues to hopefully find a cure for Teddy and his friends with Syngap 1.
When we're not working hard with therapies we enjoy going to the beach, movies, and traveling locally as a family. Travelling with a Syngapian can be a little challenging.
My advice for newly diagnosed families is to link up with support groups and other families who may be dealing with similar issues. Also, trust your gut and follow your heart when it comes to receive appropriate care. More importantly, take time for yourself so you can be the best for your child.
We can use your help to raise awareness about SynGAP1.