Colby was diagnosed with CHD2 when he was 5 years old after searching for answers for almost 2 years. As a toddler, we started noticing that he wasn’t talking, but we just chalked it up to being a second child with a very talkative older sister. When we realized it was a little more than that, we went ahead and started speech therapy at Heartspring when he was 3 years old (which we are eternally grateful for our time there with Mrs. Rhonda). Around this same time he started doing something really funky with his eyes. He would do a really long, hard blink while opening his mouth and dropping his head. We first thought he was just acting really tired. These episodes began evolving into rapid eye flutters with an extreme head tilt upward. These began happening hundreds of times a day, and they were worse in the sunlight. We took him to the doctor and they said to give it 6 months. After 6 months we went back and they referred us to a pediatric ophthalmologist. The pediatric ophthalmologist (wrongly) diagnosed him with being cross-eyed, even though I had never in his life seen before, and prescribed glasses. With no improvement and extreme frustration I decided to make my own appointment with a pediatric neurologist in town.

After a 3 month wait we were seen, he had his first EEG, and the next day was diagnosed with Jeavon’s Syndrome, which is a photosensitive form of epilepsy, seizures. We immediately started him on anti-seizure medication. After about 6 months we transitioned his care to Children’s Mercy in Kansas City and we have been blessed with the most amazing pediatric neurologist. She suggested that we do some testing to find the cause of the seizure activity. We did an MRI, which was so scary as a mom, but that all came back clear. She then suggested genetic testing, which brings us to his diagnosis of a mutation of the CHD2 gene. This mutation is “de novo” which means “new on him” which basically means that it wasn’t passed from either Jeremy or I. We’ve also discovered that this is the cause of his speech delay and developmental delay. It’s been quite the journey to find the diagnosis, been even more of a journey finding a medication that will help reduce his seizure activity. He went from having about 300 seizures a day to around 100. He’s failed 3 medications and he’s now on his 4th, which has been the best one yet, so we’re really hopeful this one can be a longer term solution. We’ve also explored a VNS device which is an implanted device that stimulates the vagal nerve to prevent and minimize seizure activity. We’re giving the meds a try for now, but we have that as an option for the future.

We are so thankful for the support from all of the partners, therapists, teachers, paras, friends, and most of all, our families! He’s doing really well! He’s had his best year of school, his speech is the best it’s ever been, his seizures are manageable. He’s a super sweet boy, we love watching him grow and mature with each passing day!

This is so incredibly rare. At the time he was diagnosed there were only 13 documented cases world-wide. We met with a geneticist, but since it was so rare they basically printed out a page from Wikipedia, which provided no new information. We started searching Facebook and discovered that there was a CHD2 group that connected us with multiple families that had children with the same diagnosis. We also discovered some researchers that had started doing some work around understanding it better to eventually work on a cure. There are now several hundred people in this group, which include family members, doctors, and researchers. There are approximately 75 patients that have filled out a genetic survey so there at least that many documented cases. I’m confident that with more genetic testing being done and more awareness there will be more diagnosed cases.

If you want to know more, please check out the website. There are several testimonials on there and also examples of some of the research that’s being done. You may even see the face of a cute boy you might recognize! https://www.curechd2.org/chd2heroes