Lucas is our firstborn child. We welcomed him into the world with all the love we had to give, unaware that he had an underlying medical condition. The first two months of his life gave us no indication of what was to come, aside from some mild feeding intolerance.
At two months old, Lucas began experiencing seizures. At first, it wasn’t clear that what we were seeing were seizures, but we knew something wasn’t right and acted immediately. We noticed a concerning, jerky movement in one of his legs and brought him to the hospital, where it was confirmed that he was having seizures. After a long week of trying different medications and searching for a cause, genetic testing was ordered. That is when we learned our son had a single “typo” in the CYFIP2 gene: Arg87Cys.
The handful of anti-seizure medications that were prescribed actually worked. Not only did the seizures stop, but Lucas’s EEG was normal! He began developing age-appropriate skills, communicating, and meeting physical milestones. It felt as though we were seeing our son for the first time without the challenges of CYFIP2 that we didn’t even know had been affecting him. As parents with no prior medical background or experience with genetic conditions, we began to question the accuracy of the diagnosis. We even took Lucas to a different hospital and requested repeat testing, as he was not following the same course as any other reported case of CYFIP2.
About five months later, everything changed again. Lucas began experiencing infantile spasms. Watching my son endure these episodes broke my heart completely, and it was at that point that we truly began to believe the diagnosis. The skills he had gained after achieving seizure control began to regress. He lost the ability to smile and to communicate through babbles and sounds. We immediately started a highly effective treatment for infantile spasms, which quickly stopped the episodes. However, his EEG did not return to normal, even after the hypsarrhythmia resolved. His development slowed significantly. Until his communication returned, I slept on the floor next to his crib each night, afraid that Lucas might need us and be unable to get our attention.
Today, Lucas is seizure-free, and we hope and pray that the seizures never return. He has made incredible developmental progress and is the happiest little boy I have ever met. Still, CYFIP2 has left us with ongoing challenges. Lucas eats through a feeding tube, is non-verbal, semi-mobile (and making great strides in this area), and struggles with disrupted sleep. For reasons that are still unclear, he is also profoundly neutropenic, which we suspect may be related to how the CYFIP2 Arg87Cys mutation affects certain pathways in the body.
I treasure every moment with Lucas. He is a beautiful, joyful, and incredibly smart little boy who has changed my life in ways I never thought possible. Every day with him is special, but that period of time between the seizures and infantile spasms opened a door to hope, a glimpse that maybe what we understand about this condition could change. Looking back, I truly believe Lucas was giving us a hint.
We established the CYFIP2 Network because being told that “there are no treatments” for your child’s condition is something I would never wish on another parent. I don’t know what CYFIP2 has in store for the future, but I know I have seen enough so far and believe that anything is possible. We began raising funds to advance research toward treatments for Lucas and other children.
Nearly two years later, we were given the opportunity to apply for a personalized medicine, one that wouldn’t simply mask symptoms, but instead address the root cause of Lucas’s condition. It was exactly the type of treatment we had been advocating and funding research for, except this one was being developed on a faster timeline and specifically for our son. We submitted the application, and I will never forget the day we received the call telling us Lucas had been accepted to receive the treatment. We now wait for the day he can begin this medicine, while continuing to support additional research efforts aimed at developing treatments for CYFIP2.