I gave birth to Ray, our second child, in October 2008. When Ray was 4 months of age, we went to our pediatrician for his well checkup. We knew Ray seemed floppy, especially compared to our older son. We assumed he would catch up. At that visit, our pediatrician expressed concern with Ray’s low muscle tone and recommended we see a neurologist.
Shortly thereafter, we went to see Dr. Richard Finkel, a neurologist (and long-time SMA researcher and public speaker) at Children’s Hospital of Philadelphia (CHOP). We will never forget March 30, 2009 when we received a tentative diagnosis of Spinal Muscular Atrophy Type 1. Dr. Finkel said, “I hope it is not SMA, but it seems highly likely.” Matt Googled it while we were in the office and he found out SMA is an incurable, terminal disease. Moreover, SMA is the #1 genetic killer of infants. The average life expectancy of an infant diagnosed with SMA is 2 years of age. We were crushed. I remember Matt holding me while I cried hysterically in the parking garage.
We love our boys more than anything. As we digested Ray’s diagnosis over the next few months, we vowed to do everything possible for him – to give him the best chance and to make sure he enjoyed life no matter what the length of time he has.
Ray never says that he cannot stand or walk. In fact, he says he WILL stand and walk someday. We love his attitude and do not tell him he will not be able to walk. No one knows what the future holds.
In fact, there are several drugs in clinical trials and one was approved by the FDA in December 2016. The drug, SPINRAZA, is injected into the spine. Ray started receiving the drug in March 2017 and has had 6 injections so far. Now that he received his loading doses, he will receive 3 injections per year so long as insurance approves it (the drug costs $125,000 per injection). Since June, Ray has been going to Project Walk for therapy to help him wake the muscles up. Unfortunately, Project Walk is not covered by insurance and costs $330 per week. Who knows what the future will hold, but we are all excited to see!
We do not want Ray’s life to revolve around doctor and therapy appointments. In many respects, he is a typical 9 year old. He loves to go places and see things. He loves to go on adventures and day trips. He loves animals, so he loves going to zoos and aquariums. He loves baseball, especially the New York Yankees. Ray loves going to NY to see Broadway shows.
We love to spend time together! When it is not cold and flu season, we go bowling, swimming and to the movies. Ray goes to Ethan’s baseball games and cheers for his big brother. Ethan likes going to Ray’s Miracle League baseball games and helps Ray bat. During cold and flu season, we are home all the time and play board games, iPad games and watch DVDs. In many respects we are very blessed; we have learned to be thankful for what we have.