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 faces a lot of challenges, but his attitude is amazing. He goes to a lot of medical appointments and therapies, but he does not complain. Our home is filled with medical equipment, but it does not faze him. 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 SMA 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 9 injections so far. So long as insurance approves it (the drug costs $125,000 per injection), Ray will receive 3 injections a year.
This year, Ray will be busy training his new service dog, Bacchus. He is a bernedoodle (Mix of Bernese Mountain Dog and Poodle). We hope Bacchus will help Ray be more independent, but he is a puppy and will require a lot of training and patience. We are all excited to see what Bacchus and Ray can achieve together!
We are thrilled that Ray is 10 and is very happy! Ray is doing well relative to his SMA diagnosis. He constantly says, “Today is the best day of my life!” Many people say he is a ray of sunshine. He smiles and lights up the room with his incredible inner strength. He has taught us and others to appreciate the small things and to be thankful for what they have.