The journey of our daughter living with CHD2 started back in 2007 when she was 6 years old and seeing her eyes fluttering (eyelid myoclonia) non-stop for minutes at a time, multiple times a day. After testing was done and meeting with our pediatric neurologist, epilepsy was diagnosed, with Jeavons Syndrome as the type of epilepsy she had. We began the medication “roller coaster” that our CHD2 families experience and know all too well in the hopes to find the right medication to help eliminate her seizure activity. In 2011, genetic testing was done on Janine. We were given the results of the testing which showed a deletion on chromosome 15 location 15q26.1 (which is where CHD2 is located) but no information could be given as to what this meant as there was only one case medically reported of CHD2 being disrupted and that individual’s case didn’t report having epilepsy. As a parent being told this could possibly be the cause of your daughter’s epilepsy but with only one other case documented we can’t tell you anything else, it was devastating. We felt alone with no answers, no guaranteed treatments, no cure. They asked if they could bank her blood for further research in the hopes that one day there would be a cure but probably not in our daughter’s lifetime we were told. There was no hesitation on our part and after the blood was drawn, we were on our way home with no hope or knowledge of what her future outcome would be or look like.
Genetics kept in touch with us throughout 2012 to 2014. In 2014, we were called back in for some news. There were more cases being documented of individuals with epilepsy having deletions/mutations of the CHD2 gene. At this point, they could rightfully say this was the cause of Janine’s epilepsy, learning disability, sensory issues and behaviors. There were other families out there now just like ours. I felt now there was hope that there could be a cure for Janine in her lifetime. During this time Janine started having tonic- clonic seizures along with her eyelid myoclonia seizures. We were feeling defeated once again. What else did she have to endure. These seizures are difficult to watch as we are helpless and can only ensure her safety when she is seizing and comfort her afterwards.
In 2015, I joined the CHD2 Support and Research Group on Facebook that another parent had started in 2014. I am now an Administrator of the Support Group that continues to grow with families all over the world having children diagnosed with CHD2. I am forever grateful to all the families out there willing to share their stories, ask the questions, and share information. Two parents from the Support Group formed a non-profit called Coalition to Cure CHD2 to raise money for research to find a cure for our children. I am proud to be a part of this initiative. With the rapid pace of research, genetics and sharing of medical information the future is not looking so bleak now and I can hope that there will be a cure in Janine’s lifetime and for all others affected by CHD2.