Kolman
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.
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CHD2 Heroes
Cora
It took a little longer for us to figure out that something was not right. How could we have.. known?
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Kolman
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.
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Sophia
I’ll never forget the night I held her for what seemed like an eternity, while she was ..per..encing petit seizure clusters. It wasn’t the first time, but it was the worst we had
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Caleb
I remember experiencing what felt like a shiver shake in the tummy, the type of shake that.. someone would have when they feel a chill.
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Finlay
Whenever he was awake he would be dosing off. I now realize that he was having seizures.. but his eyes would be rolling into his head.
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Robert
Last year, I wrote about my admission into a very exclusive, special-invitation-only parent group that will define the rest of my life.
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Luca
When the Coalition to Cure CHD2 was formed, I wanted to help but was not sure how. I would not be any good at fundraising or technical support.
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Colin
Colin was born in April 2015 at 29.5 weeks, 10.5 weeks early. He is currently 5 years old.
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Emma
Emma is a unique yet important member of the CHD2 community because of the discovery of her ultra-rare genetic problem that is quite different from the typical case of CHD2
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McKenna
Having triplets plus one in one year changed my life in more ways than I ever thought possible, but it had been a long-time dream of mine and I was up for the challenge
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Janine
The journey of our daughter living with CHD2 started back in 2007 when she was 6 years old and seeing her eyes fluttering non-stop for minutes at a time, multiple times a day
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Savannah
When Savannah was approximately 6 months old, we noticed she wasn’t meeting her milestones and had a twitch/tic like tendency.
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Julian
The CHD2 Support & Research Facebook Group was one of the most meaningful groups I joined in 2019
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Aiden
Aiden, and his twin brother Logan, was born in the US in 2005. They were much wanted IVF babies and were a blessing (and a handful) from day one
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Kate
She was born at my parents’ house as I had a horror of hospitals, having quite recently given birth to an anencephalic baby that died at birth in one
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Lucas
When I was pregnant with Lucas, things were great...until his 20 week anatomy ultrasound. The tech noticed his kidneys were a little large.
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Angel
I could not have chosen a better name for my son. An angel from the day he was born, who came to teach us lessons of life and love to his parents and siblings, to give us new ways of understanding and facing life
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Sam
I was born on February 17, 2010 and I am super excited for my birthday! I remember when I was a baby, 15 months old, when I started having quick arm movements that I could not control.
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