PENNSYLVANIA, USA — August is National Spinal Muscular Atrophy Awareness month.
Eating, speaking, even breathing. These are things many of us take for granted, but for infants diagnosed with spinal muscular atrophy or SMA, these simple functions quickly deteriorate making SMA the number one genetic cause of death in infants.
Luckily, in the past five years, there have been major advances in medicine that have seemed to reverse what used to often be a death sentence.
Like most first-time moms, Amber Joi-Watkins of Philadelphia didn't know what was considered normal development for her daughter Celine.
"I noticed she wasn't doing some of the things the other kids were doing and I did think that was a little odd," she said. "I actually did mention it to the pediatrician, but Celine was developing normally in most of the ways you would expect a child to develop. When the pediatrician told me, I was in denial. I googled it and it's such a devastating disease and I thought to myself there's just no way that my daughter has this, it's impossible."
In fact, at her four-month checkup, the doctor told her Celine was perfect.
"They used the word "perfect" and so when we went back for the six-month appointment, I was not expecting any sort of diagnosis; I was expecting another perfect appointment," Joi-Watkins said.
Instead, Celine was diagnosed as one of the 25,000 children in the U.S. who have spinal muscular atrophy. The genetic disease is caused by a missing or malfunctioning gene that creates an essential protein for muscle development. Without it, muscles waste away.
"She's always been such a happy baby and so smart and so it just didn't seem to me that something was so devastatingly wrong with her, so it was very hard," Joi-Watkins said.
Until five years ago, babies and children with SMA lacked treatments capable of stopping the disease from progressing further. Since then, three treatments have been developed since. Celine has taken two and is now thriving and off all medication.
Dr. Barry Byrne is the Chief Medical Advisor on the Muscular Dystrophy Association's Medical Advisory Team. He says a newer FDA-approved oral medication called Risdiplam, is offering even more hope to patients and their families.
"Those children with SMA would never have been able to sit independently, without support," he said. "They could not crawl or walk and they often needed a ventilator to live, so this has really been a dramatic transformation in the care of SMA.
"It's been a very impactful treatment; it's always hard to say until we fully examine the lifespan and all those future developments that we would expect in children to say this is curative, but it has been a very dramatic change in the national history of SMA—for patients who are treated early," he said.
Patients, just like Celine.
"Even though SMA is an unlucky disease, it's a lucky time for people being diagnosed with SMA because there are options that did not exist before," Joi-Watkins said. "We don't really know what will happen when they are adults, but we do know they are all moving in the right direction."
About one in 50 people in the United States is a genetic carrier of SMA, and most don't know it. Today, 32 states including Pennsylvania have programs in place or in development, and all 50 states are expected to enact screening programs by 2022.
For more information on SMA, click here.