Avery is almost 5 years old and is full of life! Despite not being able to talk to us, walk, or adequately control his muscles, he teaches us so much every day through his facial expressions, body movements, and vocalizations. He loves to move and enjoys everything from swimming, to swinging, to riding in his jogger and bike trailer. He has much-cherished cuddly days, huge smiles, and some rare bouts of giggly laughter. He has also become a little social boy who loves being around others, especially his cousins and classmates. In just six short months, Avery will be off to kindergarten, something we had a hard time envisioning as early parents.
In May 2016, just four months after Avery was born, and after non-stop tests, we received the diagnosis of early-onset epileptic encephalopathy due to the KCNA2 mutation (gain- and loss-of-function variant). While it was a relief to get a diagnosis, we quickly realized it was a complex one. Over the next two years of Avery’s life, he tried a number of seizure medications, including the experimental medication 4-aminopyridine, but none seemed to be as effective as topiramate. We are thankful to have his seizures well controlled with medication, but unfortunately, for Avery, the KCNA2 mutation plays out as multiple severe disabilities. None of which you would know by the smile he often shines on his face.
It has been a process of accepting and adjusting to a life we never envisioned, but along the way, Avery has taught us a lot and brought us much joy. We now look at the world through different eyes; ones that better acknowledge and embrace the differences within each person, but also the similarities we all share. We are reminded to live in the moment and look deeper than appearances. Finally, we have met, and continue to meet, so many amazing children, parents, doctors, therapists, and caregivers through this journey that Avery has taken us on. The KCNA2 extended family has been a lifeline in a world that seemed too big to care about a rare mutation. We have had the joy of meeting two KCNA2 friends already and look forward to the days that we can meet more.