When I was pregnant with Lucas, things were great...until his 20 week anatomy ultrasound. The tech noticed his kidneys were a little large. He had hydronephrosis. There was water in his kidneys. This was monitored until he was 2 and we saw the fluid slowly decrease after time.
His first year was hard. He didn’t sleep, and was allergic to most foods. He was colicky, had GERD and was sick, A LOT. As he grew out of most of these ailments around age 3, he started getting rashes when he was in the sun too long. At first I thought I didn’t sunscreen him enough, then when it continued to happen even with attentive sunscreen attempts, I thought he may be allergic to the sunscreen. I tried about 7 different sunscreens and found one that helped. I didn’t think much more about it.
Lucas was a pretty typical 4 yr old, though his speech was delayed, he loved to do things that 4 yr old boys loved to do. Then he had his first seizure. August 28, 2020 changed our lives forever.
The first seizure lead to a CT scan of the brain, when that showed nothing we thought it may have just been a fluke seizure. It happens. But then he had another, and over the next month we felt like frequent fliers at the ER. There was an ambulance at our house almost every week for a month. This lead to an EEG, an MRI and an Autism diagnosis. The MRI showed gray matter on both sides of his brain. After we found a cause we assumed that if we targeted the affected areas, things would get better. They didn’t. He started having more seizures closer together. We tried medicine after medicine. We would cure one seizure, then a new type would start and we would change medication...again. Each time we change medication it is a 4-6 week process. Slowly increasing to start a new and slowly decreasing to come off another. Seizures continued. After a 2nd MRI we saw that damage was occurring to his brain because of the aggressive recurrent seizures and we scheduled a 24hr EEG to better pinpoint the type of seizures he was having and did a genetic test. The test came back positive for a CHD2 gene mutation.
When the neurologist called with this information all she could really tell me is that there isn’t much known about this disorder. She told me there were only 35 academic cases studied and she emailed me 2 articles talking about the genetic mutation. This is all we had to go off of. Until I found a Facebook group that lead me to Coalition to Cure CHD2. For the first time since the diagnosis I have hope for a cure. Even amidst medication trial and error.
After trying 5 medications, Lucas’s seizures were still occurring daily and he was having anywhere from 8-14 drop attacks. Now on 3 medications he is lucky to be going 7-8 days without seizures, and maybe only 1 or 2 in between.
It hasn’t been an easy road. We’ve hit his threshold on 2 of his current medications which we realized after he was showing symptoms such as: vomiting, abnormal eye movements, dizziness, and unusual seizures. So while things are somewhat controlled for now, we will inevitably have to start the “trial and error” process again when his seizures break through. But for today, we can smile knowing that it is working right now. Lucas is 1 week seizure free for the first time since before Christmas.
Our family is constantly learning new information about CHD2 and things from the past are starting to make more sense. We look forward to the strides being made to find a cure for CHD2 and will not stop sharing our story and educating others so that parents who are dealing with these challenges, won’t have to go through them alone like we have before them.
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