Caleb is our second child and I was eager with excitement for my pregnancy with him as I had enjoyed my first pregnancy with his brother Dylan. I personally learned fast that every pregnancy is different but of all the complications experienced during pregnancy with Caleb, there was one thing really stood out- his brother Dylan was very active in the womb, whereas Caleb was quite placid except for his shakes. 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.
When Caleb was about 16 months we noticed him experiencing shiver like body jerks. A few months later Caleb was diagnosed with autism and some professionals thought that his body jerks were a tick associated with autism but after an EEG in July 2015 Caleb was officially diagnosed with epilepsy.
In June 2017, after five failed antiepileptic drugs and 18 months of insisting that doctors do genetic testing, Caleb’s was diagnosed with de novo CHD2 mutation which was explained to us as an early onset epileptic encephalopathy and is drug resistant.
Caleb was the first known CHD2 case here in the Republic of Ireland, which had neurologists and the Epileptologist interested in his case but very little help could be offered because of the lack of information known about CHD2. Our family has travelled all over Ireland, to the United Kingdom, Italy, Netherlands and made contact with numerous hospitals in America and Europe in hope to get more information and help for Caleb.
Unfortunately, because of lack of resources and research, we still have a lot of unanswered questions. Caleb has had days when he would have hundreds of myoclonic seizures, keeping him from completing the simplest everyday routines like feeding or walking. At one point I had to record video footage for his doctor, it showed Caleb having up to 44 myoclonic seizures in 5 minutes. Our doctors tried multiple anti-epileptic medicines and combinations of them – we had very little success with them in treating Caleb and he often he suffered seriously adverse reactions to them, from mood swings, high levels of lethargy to even suffering temporary paralysis from the waist down.
Things became worse in 2018 when Caleb had his first tonic-clonic seizure in the car while driving home. From 2019 to April 2020, Caleb went from having tonic-clonic seizures every few weeks to every few days. Fortunately, with some changes in his medications including medical grade cannabis from the Netherlands, his seizure activity has been better controlled but we still have a long way to go. As an eight-year-old, his developmental level remains at a toddler level and his behavior can be very erratic and sometimes violent, including self-abuse. He remains mostly nonverbal and unable to do some of the simplest self-care tasks. We live in a constant state of worry about what his future holds as he grows older and our ability to manage all of the challenges that are a part of life with our child with a CHD2 mutation.