AANEM Foundation News Express

AANEM Foundation News Express

New Jersey Mother Fights for More SMA Testing of Newborns

10/19/2020
 
Regina-Philipps-and-Family-(1).jpgRegina Philipps is a fighter. She fights for her son, Shane, a 2-year-old boy who is living with spinal muscular atrophy (SMA), and every other child who didn’t receive an SMA newborn screening. Shane wasn’t diagnosed until he was 10 months old, after Regina and her husband Chris noticed some strange symptoms about 6 months earlier.

“It was a very slow decline. He was doing really well and then we started noticing symptoms. So we tried to figure out what was going on,” Regina recalled.

Regina, a lawyer, went through the same emotions many parents go through when hearing such devastating news for a child. Then she put her lawyer cap on and went to work discovering why this wasn’t caught sooner.

“Had he been treated any time before he became symptomatic, things would have been very different,” Regina said.

Regina explained that if caught early, treatment could prevent the loss of motor function.

“Usually people who don’t realize they have the carrier gene until someone in their family becomes affected with SMA. We’d never heard of it. I just started researching immediately. I knew something wasn’t right. He was regressing. I had come across SMA in my research, but I had ruled it out myself. It talked about difficulties with eating and breathing. Thank God he didn’t have that, but I was still wrong,” Regina said.

Shane’s symptoms include muscle weakness, especially in his legs. He can’t pull himself up to stand, but he can push himself up into a sitting position with assistance.

“He couldn’t move his legs at all a year ago, and now he is moving his legs and pushing himself forward in a gait trainer. It’s going to be slow and take a lot of hard work in therapy, in addition to his treatment,” explained Regina.
Regina says the SMA treatment that is available, with many options being extremely costly, is a fight unto itself.

“We were fortunate, but some insurance companies try to exclude children who are already sick. So you have to do whatever you can and never give up, and keep fighting. Many people have had to go through every level of appeal before getting approved,” she said.

With recent advances in therapies, Shane has been able to make some headway with treatment.

“By the time he got diagnosed at 10.5 months, his motor function was that of a newborn. He went from a strong, healthy baby to where he could barely sit up or pick up his arms. Since treatment, he can get around in a wheelchair, can lift his arms above his head, can roll around, and we are working on crawling and standing,” Regina said.

Shane’s attitude inspires Regina to fight and advocate for others who may benefit from newborn screening of SMA.

“He’s a really sweet boy and very funny. He’s got an old soul. Shane is in therapy 5 times a week – aqua, physical, occupational, and speech therapies. It’s paying off and he gets stronger every day,” she said.

Regina became one of New Jersey’s fiercest advocates for a new bill to implement newborn screening for SMA in her state. In a December op-ed, Regina wrote, “If passed, this will bring us one giant leap closer to implementing newborn screening for SMA in our state – something that will save countless young lives.”

In January 2020, the bill was passed by the New Jersey legislature. When testing is implemented, any child born in New Jersey with SMA will have caught it at birth, which will mean early treatment and the best possible outcomes.

With the COVID-19 pandemic making life difficult for everyone, especially those who are immunocompromised, Regina and her young family continue to be optimistic about Shane’s future.

“We are doing fine. Between watching Shane, doing his therapies virtually and working full time from home, I’m just trying to figure out how to fit more hours in the day,” said Regina.

Regina recalls the feeling of powerlessness when their neuromuscular specialist told them the news of Shane’s SMA diagnosis. Now, as Shane continues to make progress, Regina grows more optimistic about the future and the progress she has helped cultivate in her home state.

“There are parents in the SMA community whose children either passed away or it was too late for treatment to benefit them, yet they still fought to fundraise and raise awareness so that future children with SMA had a better chance at life. They are the reason treatment exists now and why are so fortunate,” said Regina. “I felt it was my job to keep that mission going and to help pass that bill, to make sure future children will have an even better opportunity to fight this disease. Why not me? It was such an injustice what happened to Shane. I didn’t want it to happen again.”

Initially, their neuromuscular specialist said that Shane would have difficulty getting himself from the couch to a wheelchair. Now, after progression through his treatment, there is a very real possibility that he’ll walk someday.

“I think there’s a lot of hope now,” Regina said. “There is now doubt that all these people living with SMA are very intelligent, resilient human beings that have physical limitations, but they don’t let it stop them at all. To give people like that even a little more physical ability, it’s really a miracle. I think they deserve a chance to have the best life they can possibly live.”

The mission of the American Neuromuscular Foundation is to provide funds to the next generation of researchers to advance the science and practice of neuromuscular and electrodiagnostic medicine. Your donation helps provide patients like Shane with hope for a cure. Even a small donation makes a big difference. Visit www.NMFoundation.org to donate and join the global effort to cure neuromuscular disease!
 
 


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