One couple has been fighting to make genetic screening required for other newborns to save their lives after finding out that a simple screening could have prevented their son from developing Spinal Muscular Atrophy (SMA), a fatal muscle-wasting disease.
Chris and Regina Philipps from New Jersey described that their 17-month-old son, Shane, as a typical toddler in every way.
Shane was just 10 months old when he was diagnosed with SMA, a genetic disorder that affects the nerve cells in the spinal cord, affecting the ability to eat, walk or even breathe.
According to the nonprofit Cure SMA, SMA is the number one genetic cause of death in infants, affecting at least 1 in 11,000 babies in the United States.
Child Neurologist at Columbia University’s Department of Pediatrics Dr. Darryl Devivo said, “While it’s classified as a rare disease, as a rare disease it’s relatively common. In severe cases, it’s a life-threatening disease. It’s a disabling disease in all cases.”
Regina said, “If Shane had been screened, diagnosed and treated before he started exhibiting symptoms of the disease, his outcome would basically be a normal life. Now, we just don’t know what his life will be like.” She mentioned that the doctors said he would not be able to walk anymore.
The life expectancy of newborns diagnosed with SMA is based on the type and severity. The SMA Foundation said babies born with SMA Type I usually die before the age of 2.
Babies with SMA Type II, as in Shane’s case, can survive a bit longer, though it can take a significant toll on their motor skills and development.
Chris said, “It’s a very unfortunate situation for all of us, but a lot of people out there have it way worse, and we are very lucky to live in a time with all these treatments.”
The newest gene therapy drug approved by the FDA for the treatment of SMA costs more than $2 million a dose, which is the world’s most expensive drug.
Diagnosing SMA in babies without the screening is difficult. And one of the issues before a baby exhibits symptoms is that the symptoms are largely undetectable for the first few months of the birth.
Regina said, “Shane was born totally healthy, not an abnormal pregnancy at all, he was actually really strong we felt for a baby, holding his head up on his own after a week.”
After six months, she noticed he was not able to do small things, such as kicking his legs. They took him to the pediatrician who said there is nothing wrong and every baby develops differently. After his motor skills and development continued to regress, they went to a neuromuscular specialist who diagnosed the condition.
Regina said, “We got a diagnosis at around 10 1/2 months. It’s crazy that you can have a disease that presents totally normal for the first six months of your baby’s life.”
Shane’s parents have made it their mission to make SMA screenings standard for newborns in the United States after realizing that their heartache could have been prevented if Shane was diagnosed much earlier through screening. Regina said, “Even though we can’t go back in time and change the course of Shane’s future or get him screened, we still have to do that for other families so they don’t have to go through what we go through.”