But I got permission to share this great story! Here's some background info first: When we met Gerson, we learned that he had been suffering with some unidentified physical issues since he was a small kid. He said he had no pain, but he often walked with struggle, especially late in the day. When we arrived in Peru, it was actually worse than we thought. In old blog entries, we talk about Scott carrying him when we were there. Doctors in Peru had tested for many things and had decided that it was psychological. When we first saw him, we knew that wasn't the case. As the day would go on, his muscles would get tighter and tighter. If he touched his back, you would feel him shaking from the fatigue in his flexed muscles from shoulder to toe.
We saw muscle, nerve, and cerebral palsy specialists of all kinds when we got back in the U.S. He had a perfectly "normal" MRI of both brain and spine. We did physical therapy up to 3 times a week. We were wearing him out with little to no progress and still no valid diagnosis. I even started to wonder if trauma had been the cause and not something physical. And really, Gerson had resolved to this being his life. We were just trying to see if there were avenues to make things easier for the day to day.
I've watched the 15 year old be crushed that he can't play soccer. Laugh about falling at school. But cry when he stresses about starting a new semester and having to be so different, once again, and not understanding why.
Last week though, we got sent to the geneticist for the first time. Honestly, I thought it was just a silly formality and was doing it only because Children Mercy said so. We had even received the genetics blood work and knew it was normal before we went. Waste of time, I thought. But this appointment was different! The Dr. had read his file extensively before we got there. Then, she did something no other Doctor had completely done. She listened. She pieced together things from his file with things that I said we had observed in the year we've been together. And she had a diagnosis! It was surreal. She walked in, introduced herself, and said "I believe he has dopa responsive dystonia". Basically, she believed his brain wasn't making enough dopamine to send the proper messages to his muscles and it explained his symptoms. The onset of this is usually around 6 years old, you have more energy and muscle control in the mornings and struggle late in the day, untreated it causes stunted growth....I could go on and on. It described Gerson! And no one had ever mentioned this before.
I left in a whirlwind, not wanting to do the cartwheel that seemed to want to come, for fear that she could be wrong and Gerson would be so disappointed. But we filled the synthetic dopamine prescription that night and he started the next day. And I kid you not, there was a difference when he came home after school that day! After only 1 pill! When I realized he knew it too and could control his hands and feet differently, I practically tackled him on a bean bag crying! It was a miracle! A kid, whose muscles have been essentially frozen for 10 years, is walking flat footed. His neck and face are so much more relaxed, he almost looks like a different kid. We watched him try on shoes for Homecoming, standing on one foot, and not holding onto anything. In the evening! I wish I could convey how huge this is! We're a week into medicine and Gerson is talking about what professional sports he might play! We saw the geneticist again today and even she is floored at the progress. She had documented that he had clubbed feet and his toes crossed over each other, but no more!
We're still working out dosage and Gerson has to take it a bit slow to teach his muscles how to do things they haven't done before. But we have truly witnessed a miracle in our house! God has been so good to Gerson. He could have written his story differently and that would have been okay. But He didn't! We are so grateful!
(Gerson-15 in the blue, Jhonny-17 in the purple)
