Our beautiful, sweet baby James was born late in the evening on March 18, 2005. Everything had been going along smoothly and according to plan. The pregnancy was easy, and James arrived just shy of his due date. His Apgar scores were excellent and James joined his father and me to settle in for the night. James was our first child and we savored the time snuggling with our new baby that night. The following morning, all seemed normal to us, but a nurse who came to check on him noticed some jerking movements that did not seem normal. We waited some time to find out what was going on, and after what seemed like an eternity, were informed that James was having seizures. At that point things took a dramatic turn.
What was a few minutes earlier a joyous celebration, now turned to panic. Our brand new baby was taken away for CT scans and a battery of tests. We were told they did not know which of the numerous diseases that cause infantile seizures it could be, since James showed no obvious signs of anything and nothing runs in our families. He could just have benign seizures that he would soon outgrow. He could have something imminently fatal. I was offered a sedative.
We spent the next 10 days with James in the ICU trying to get his seizures under control and as he underwent numerous additional tests, one by one, to identify the cause of his seizures. Other than the EEGs, which were consistent with his seizure activity, all of the tests were normal. With his seizures eventually controlled by a combination of several medications, we were sent home with the conclusion that everything seemed fine and James would likely just outgrow his seizures.
We seemed to have largely dodged a bullet. After awaiting numerous test results that could have indicated doom, we brought home a sweet little child who was expected to turn out just as anticipated. He had another bout of uncontrolled seizures about a month later, but after another week in the hospital, they were brought back under control and we were on our way. Heavily sedated by seizure medications (and with what turned out to be a very sunny easy-going disposition), James was a very easy baby. With the assurance from doctors that he did not have a significant or inheritable condition, we decided to have another child.
However, over the coming months, it became obvious there was something more. James did not sit, crawl, or babble on schedule. The sedation of his medications and impact of his seizures, blamed by his doctors, did not explain it all. By the time his sister was born, right around his first birthday, it was clear there was something more the matter. We began on a diagnostic journey that in all spanned nearly nine years, trying to find a diagnosis for James’ seizures and significant developmental disabilities. We were looking for a needle in a haystack, and in 2005, the scientific knowledge was not yet to a level to figure it out.
Over the years that followed, James was tested for literally hundreds of disorders, mostly one by one. Any blood level a bit high or low led to a new search down a rabbit hole that led to months of treatment for an obscure condition that James would turn out not to have, while we awaited the results of some lab at whatever academic medical center happened to run that test. We routinely got input from the top centers nearby at Stanford and UCSF, and we sought input from colleagues and networking to get input nationwide. In 2012, we applied to the NIH Undiagnosed Diseases Program and were one of the “lucky” few 100 patients in the country each year who defy all attempts at diagnosis and get the government’s best experts on the case, spending a week onsite in Bethesda for a full workup. They too had no answers.
In 2013, we found one more option to try. TGen’s (the Translational Genomics Research Institute) Center for Rare Childhood Disorders was running whole exome sequencing on children with undiagnosed neurological disorders. With science finally catching up, the gene finally discovered, we found out in late 2013 that James was affected by a de novo KCNQ2 mutation. We finally had the answers we had been looking for and were finally able to get to work!
The team at TGen helped getting us in touch with experts in the area and we rapidly connected with other families of children affected by KCNQ2 through the Facebook support group. After years and years, wondering what was causing James’ seizures and disabilities, not understanding what was happening in his brain, not having any group we belonged in…we had found “our people.” I joined with other families from throughout the world to form a foundation focused on education about KCNQ2 and advancing research to help our children lead the best lives possible. We have made amazing progress in the short time since the KCNQ2 Cure Alliance was formed, joining together hundreds of people virtually in our Facebook group and bringing together many of them, along with scientific and industry experts at our annual Family & Professional Summit. After a career in the biotechnology industry it is gratifying to be able to put this to work in accessing my professional network to advance potential treatments for our child. Even more importantly, we get to be the parents of an amazing, beautiful, happy little boy. James brings a smile to the faces of those around him and has taught us all valuable lessons about life.