James’ Story


To say it has been a long a winding road would be an understatement. From the moment in 2005 when we welcomed our seemingly healthy baby boy, to the time 12 hours later when the nurses noticed his seizures and he landed in the NICU, James continues to surprise us. After more than 8 years on a diagnostic journey until the discovery of KCNQ2 developmental and epileptic encephalopathy, and times when we were alternately told that he may have a disease that was imminently fatal, may be just fine and “still be able to go to Yale,” or may never walk, James has chosen his own path.

Despite all of his disabilities — James cannot speak or understand what is said to him, he cannot feed or dress himself independently, and requires assistance for nearly all functions of everyday life — he has achieved so much more than was ever thought possible and maintains his sunny disposition. Not only did James learn to walk, he learned to ski and to swim.

Despite his limitations, James embodies what every parent wants for their child. James is incredibly happy and greets each day with a big smile. He tries his best and has accomplished far more than people expected of him. He is loved by so many, and brings joy to those around him.

While this was not the life we chose for James, we get to be the parents of an amazing, beautiful, happy 13 year old boy. James inspires us to do whatever we can to help him live the best life possible.