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. When I was asked if I would be willing to share Luca’s story, I was hesitant. Although most of our friends and family know Luca has struggled with epilepsy, we have not publicly talked about CHD2. It’s hard to know how much to share - especially in these times when many are “oversharing” on social media.
Remarkably though, oftentimes when friends or acquaintances hear of Luca’s severe epilepsy people respond by saying “oh but he looks so normal”. This is why we need to tell our story. We need to raise awareness. We need to redefine normal. We need to “normalize” our differences -genetic or otherwise.
Our son Luca had his first known tonic clonic (grand mal) seizure on September 11, 2016. He got out of bed in the middle of the night to wake me for water. I laid down next to him until he fell back to sleep. Sometime later I woke to the sound of him choking on his own saliva and the motion of his little body rhythmically contracting. In the days and weeks that followed he experienced many seizures. At first they were weekly, then every few days, daily and then multiple times daily. The tonic clonic seizures continued and atonic, absence and atypical absence seizures began. Visits with neurologists, MRIs, EEGs and hospital stays followed. EEGs revealed subclinical seizures that were frequent and at night nearly continuous. We very quickly learned about medications, medication side effects, and rescue meds.
After several months of daily seizures, no response to multiple medications and hospital stays, our neurologist recommended genetic testing. She said it was unlikely that we would find a genetic cause since there was no family history of epilepsy. A few days before Christmas we got the call. The doctor asked if I could sit down. Typically she would not give this type of result over the phone, but given the circumstances she would. Luca had a CHD2 variant. She explained that there was very little information about the variant in the literature but what was published was not positive. It was a genetic variant that was not passed from either parent but instead happened when Luca’s DNA was being formed. There were only about twelve case studies described. She recommended we speak with a genetic counselor.
The genetic counselor asked for a lot of information about Luca and our family. We filled out form after form but in return he had very little information to share with us. He had no experience with CHD2 epilepsy. He recommended a Facebook page to communicate with other parents of children with CHD2 variants. We were devastated. Others would say it was a good thing that we found the cause; we no longer needed to search for the cause of the seizures. For us, discovering the cause meant there was no longer any hope that the seizures would stop. It meant that Luca would never live a seizure free, independent life. It took away our last shred of hope for a cure; to be one of those stories that everyone always told us - the person they knew who had seizures as a child and “grew out of them”.
Next came the assertion - you have the best hospitals and doctors in the world. Surely you can find an effective treatment for him. And then, if not here take him someplace else. Take him anywhere. Get another opinion. Take him to where they know more, where they have better treatments. At this point we learned the definition of a rare disease and the realities that come along with such a diagnosis. For most rare diseases there are not effective treatments. People live with their diseases and conditions. The realization that
there are hundreds of thousands of people living with intractable epilepsy was and is absolutely heartbreaking. It is also astounding that there are not more specific and effective treatments for different types of epilepsy.
So, we have learned to live with epilepsy, all of us. We have spent the last four years adjusting to our new normal - celebrating the good days and surviving the bad. We have adjusted to lack of sleep, 24 hour care, and special education - PT, OT, speech therapy and ABA. We have leaned on our friends and family. Luca has grown into his own person with his own interests and passions. He has shown us near impossible strength and courage. He makes us smile and laugh every single day.
Today we focus on what we can do. We can try to make each day as productive and happy as possible. We cannot accept the unacceptable. By telling our story we can help other families feel less alone in their struggles and help to console those new to this journey. With the coalition we can offer some hope as we work towards the day when there will be available treatments and, I hesitate to even type the word, cure.
My hope is that someday Luca can tell his version of this story and it will end with a cure.