"Time is of the essence," Dr. Jill Jarecki of Cure SMA said.
A simple test could have changed the progression of little Shane Philipps' spinal muscular atrophy (SMA), and his family is now fighting for earlier screening for other babies that might be facing the same debilitating disease.
The 17-month-old from Haddon Heights, New Jersey, lost his ability to hold his head up and he can’t crawl or walk as a result of his SMA.
Even though his family isn’t sure whether he’ll ever be able to get those skills back, his mom, Regina Philipps, said they’re counting their blessings for all the positive things are in Shane’s life.
“He's very bright, very loving,” Philipps told InsideEdition.com. “He has a huge personality, he brings light and love to everyone he meets, he's just a good kid all around.”
Shane was diagnosed with SMA type 2 at just 10 months old when Shane stopped moving as much as he used to.
“Everyone was like he's just lazy, he's just chill, it's not a big deal, but then it became a big deal,” Philipps said. “We knew something was wrong but we never in a million years imagined that we would hear he had a serious genetic disease. It's by far it's the worst thing you can ever hear about your child.”
“Spinal muscular atrophy is a genetic disease,” Dr. Jill Jarecki, chief scientific officer of Cure SMA, told InsideEdition.com. “It affects motor neurons and in the most severe forms of the disease, traditionally children will have trouble breathing. They would have trouble with motor function and movement. Also with eating.”
About 1 in 11,000 babies is affected by SMA, and about 1 in 50 Americans is a genetic carrier, according to Cure SMA.
While Shane is on a promising course of physical therapy and medical treatment now and showing signs of progress, Philipps said their family’s battle to give their son a healthy life could have been greatly changed had doctors tested for SMA during a routine newborn examination that tests for other genetic diseases.
“SMA affects motor neurons, and motor neurons are a type of cell that once you lose them, you can never get them back,” Jarecki explained. “So, time is of the essence.”
Jarecki explained that if caught before six weeks of age, many symptoms of the debilitating disease are lessened and many babies can even learn to walk, thanks to clinical trials.
“There’s no reason we shouldn’t be screening in every state,” Philipps said. “We would be looking at a normal, happy toddler, hitting normal milestones.”
Both Philipps and Cure SMA are now pushing for SMA to be included in the battery of diseases the federal newborn test screens.
“We don't think of it as a cure, but it will dramatically change the disease course,” Jareki said. “... We’ve been very active in doing advocacy on the state level to ensure that every baby born in every state of the United States is tested for SMA ”
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