Ethan Demmers was born on December 3rd, 2008, a large nine pounds, one ounce. He was cute, lovable, and delicious from the first second we saw him.
We noticed early on that he had trouble doing things his older sister, Jolie, did quite naturally at the same benchmark times. Things like rolling over, sitting up and staying up were not coming to him, and so by 10 months we had him tested and the physical therapy began. Eighteen months later, he graduated from PT, and was deemed "strong enough" to go about his life.
During his fourth birthday check up, something was wrong. His liver enzymes were off the charts, and he nearly stopped growing. He still had muscle weakness, but we had gotten used to him being a little behind, physically. After all, he had enormous calves (a symptom of DMD), and we were just waiting for those large muscles to start activating.
His pediatrician recommended an endocrinologist. We did that. Then we saw a pediatric gastroenterologist. We were about to see a geneticist, when, finally, the results from a muscle enzyme test (CPK or Creatine Phosphokinase) came back. A typical, healthy patient has levels between 20 and 200. Ethan’s levels were around 14,000 (also a symptom of DMD).
Our pediatrician told us to see a neurologist right away and we were thus given a preliminary diagnosis of Duchenne’s Muscular Dystrophy. This was right before Thanksgiving of 2013. That hurt, a lot.
After some of DNA testing, a couple of pediatric neurologists, and an MDA clinic in New York City, the diagnosis was confirmed. That hurt more. Our little boy…
From here, the journey, the adventure, the voyage-whatever you want to call it-continues. There is hope on a distant horizon in terms of treatment or therapy, but we fight now.