Kolman was diagnosed with CHD2 neurodevelopment disorder in September 2021.
His journey starts all the back in January of 2017. When Kolman was 14 months old he had his first seizure. It was one of the scariest days of my life. We found him in his crib convulsing and foaming at the mouth. He was taken to the hospital by ambulance and on that ride I prepared myself for the worst. The opposite happened, he “came to” and the ER brushed it off and told us to follow up with a neurologist. That neurologist also brushed it off and told us all kids get a free pass on their first seizure. I remember that appointment like it was yesterday, literally being called an anxious mother and because of that they agreed to do an EEG and MRI. Both were clear though. I was in tears and remember saying “are you sure we aren’t missing something bigger? My gut is telling me something is causing his seizures.”… about a month later he had 3 seizures in one day. We were able to capture videos and that started his journey with an actual epilepsy diagnosis and daily meds.
He had a 24 hour EEG in June of 2020 and it was abnormal. Showing seizure activity every 3 to 5 seconds during sleep. We started having the discussion about changing his meds (he was on Keppra) because of the behavioral issues we had seen over the past 3 years being on it. He had another EEG in December of 2020, this time a 4 day stay to get a bigger picture of what all is going one. This led us to do some genetic testing and in that first round CHD2 came back as an unspecified marker. Along with 4 other genes. More testing was ordered and we discovered that CHD2 neurodevelopment disorder was the cause of his epilepsy and other behavioral issues we have been dealing with for years.
He has always had sleep disturbances. He struggles with anxiety, ADHD and some OCD tendencies. I have learned to be my kids biggest advocate as many of his doctors have never even heard of CHD2. He now has a developmental pediatrician, neuropsychologist, neurologist, and geneticist. He is on the waiting list for testing to get a baseline for his cognitive development and we are waiting for an OT evaluation. We say that Kolman is our Blessing with a Challenge. With having two older children and we are learning daily that things that worked for our other two just won’t do for Kolman. We have to come up with new approaches and what works for him each day. We are new in this journey and will continue to advocate for Kolman to get the support and services he needs to thrive in every day life.