Connor was born and labeled healthy, and we were sent home from the hospital. We were so excited that we were able to give our older son Chase a brother and a best friend for life. But it was short-lived. A few weeks after birth, he cried often, rarely slept and had a lot of gastrointestinal issues and feeding difficulties. At this point I naively thought that when a person was ill, he went to the doctor, received a diagnosis, took a medication and got better. I thought diseases were cured and people recovered. I was in for the shock of my life having Connor as my son.
At eight months of age, Connor had his first full blown tonic seizure, and after an EEG, was diagnosed with “infantile spams”, a rare, catastrophic form of epilepsy that rarely responds to medications. We watched as he suffered through hundreds of them a day, trialing over a dozen ineffective pharmaceuticals, losing his eyesight due to seizures through the optical nerve, having a feeding tube surgically implanted as he refused to eat, losing his laugh, his smile, and the ability to hold up the weight of his own head.
“I had a moment of clarity and I knew this was not how our story was supposed to end.”
We traveled to some of the best hospitals and doctors in the country with no answers to a diagnosis as to what was causing the infantile spams and other seizure types. When he was two years old, our neurologist came into our hospital room where Connor was lying in a crib, semi-conscious in a drug-induced state in an attempt to give his brain a rest from non-stop seizure activity, stood over him and had a talk with my husband and me. They said there was nothing more they could do for Connor Dalby, that his brain was very sick, that there were no more tests left to run, nothing else left to try. Connor was placed on hospice services and the hospice doctor did not feel that Connor would live to see his third birthday based on the severity and frequency of his seizures.
I had a moment of clarity and I knew this was not how our story was supposed to end. I aggressively began to pursue alternative treatment options, therapies and diet, and began to see many improvements. He was discharged from hospice.
At four years old, Connor received full genome sequencing and we finally received a diagnosis after searching for four years. There was a hit – a mutation in the SCN2A gene. Our doctor explained: “It’s good we have a diagnosis but there is still nothing we can really do other than manage Connor’s symptoms. There is not much known about SCN2A, and while in 100 years from now this disease probably won’t exist, we will have silenced the mutated gene, it won’t happen in your son’s lifetime.” Yet, what I heard was, “this is curable.”
I decided right in that moment that we would figure out a way to create a treatment for mutations in the SCN2A gene; it was just a matter of finding the right scientists and researchers to do so. As a parent, I have walked through hell with my son Connor for years, experiencing a level of pain the overwhelming majority of people don’t know is possible. I have spent the past four of those years working towards a solution for my child and so many others. It is starting to be within reach, and for that, I am so grateful.
-Kelley Dalby, Senior Vice President and Co-founder