New Jersey Mom Fights For SMA Screening In Newborns To Prevent Neuron Damage

Regina Philipps, the mother of a 17-month-old baby boy named Shane Philipps, is fighting for the universal screening of spinal muscular atrophy (SMA) test in newborns after her child was diagnosed with this rare disease when he was just 10 months old.

SMA is a genetic disease that affects the motor neurons of a person. It robs the physical strength of an individual taking away their ability to eat, breathe or even walk, according to Cure SMA, a non-profit organization for treating and curing this illness

It is known to be the number one genetic cause of death for infants. Nearly one in every 11,000 babies are affected by this rare disease and around one in every 50 Americans is a genetic carrier of it, stated the organization.

Little Shane from Haddon Heights in New Jersey cannot crawl or walk. He can’t even hold his head up due to SMA. His parents took him for a diagnosis after they noticed that he was not 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. 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,” Regina told Inside Edition.

By the time the baby boy was diagnosed with SMA type 2, he had lost many of his motor nerve cells. Regina said her son’s life could have changed greatly if the doctors had tested him for SMA during his regular newborn examination.

“SMA affects motor neurons, and motor neurons are a type of cell that once you lose them, you can never get them back. So, time is of the essence,” Dr. Jill Jarecki, chief scientific officer of Cure SMA, told InsideEdition.com.

“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,” he added.

Little Shane is currently on a promising course of medical treatment and physical therapy. Though he is showing some progress signs, his parents are not very sure if he will ever be able to lead a normal life. Regina said they are doing everything to offer a healthy life to him.

“He's very bright, very loving. He has a huge personality, he brings light and love to everyone he meets, he's just a good kid all around,” the mother added.

Regina believes that it is really important to include SMA test in the list of universal screening tests for newborns. “There’s no reason we shouldn’t be screening in every state. We would be looking at a normal, happy toddler, hitting normal milestones,” she said.

Jarecki also stressed on the importance of SMA test for newborns. “We don't think of it as a cure, but it will dramatically change the disease course. ... 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,” he said.