Nick Sinagra is now treated with Spinraza every four months, which increases the production of the SMN protein, which is needed for muscle control.By Celina Pompeani

PITTSBURGH (KDKA) — August is SMA Awareness Month.

SMA stands for Spinal Muscular Atrophy. It is a rare neuromuscular disorder that starts in the central nervous system and affects all of the muscles in the body.

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Those who have SMA are missing the nerve cells in the spine that tells muscles to move.

Nick Sinagra has been living with SMA his entire life. It makes every day functions like eating, breathing and talking more difficult.

(Photo Provided)

Recently, Nick tried a new treatment and it is changing his life for the better.

“I’ve had so many people tell me that I’m talking better than I ever have,” Nick said.

Nick says his quality of life has improved so much that his speech has gotten better, he finds it easier to move his hands, brush his teeth and eat food.

It’s because of Spinraza, which is the first FDA-approved treatment for SMA.

“The small things are what’s really helping me,” Nick said. “It’s the boost of energy that I get immediately after the injection and when I say immediately, I do mean two or three days.”

Nick’s neurologist, Dr. Joseph Clark at Punxsutawney Area Hospital, says SMA is a progressive condition and the severity can very among individuals.

“Really there was no treatment for it before these latest things came out,” Dr. Clark said. “Actually, what this medication has done, it has actually improved his ability to control his wheelchair, and do other things on the computer, be able to speak better, be able to breathe better.”

Patients living with spinal muscular atrophy lack the spinal motor neuron protein or SMN.

“You need that protein to have muscle strength, that actually works the muscles. If you don’t have it, then you get weakness,” Dr. Clark said.

A weakness that Nick’s parents started noticing when he was just 6-months-old.

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Nick is now treated with Spinraza every four months, which increases the production of the SMN protein, which is needed for muscle control.

“Spinraza (or Nusinersen) is actually an intrathecal medication given through a spinal tap. You give it first frequently, once every two weeks or the first couple times, and then give it 30 days, and then it’s every four months after that and some maintenance every four months,” says Dr. Clark.

Dr. Clark says it’s basically gene replacement therapy if you get right down to it.

“When I work, I’m on the phone, I’m on zoom meetings, and talking. I mean, I need to be able to do that, I need people to be able to hear me and understand me during these meetings, so things like that, that have become easier and noticeable better,” Nick said.

Nick is a proud graduate of Duquesne University and now works two full-time jobs.

He’s the Director of Technology at PathVu, and he is also in the process of starting his own business.

“Basically to provide technology services for small businesses and nonprofit organizations,” he said.

Nick has already accomplished so much in his life and in his career, and says he owes so much to his loving family and friends for their support.

“My parents, nobody really understands what they do for me on a daily basis. My brothers, they are 100%, 110% supportive of everything I do,” says Nick. “We have goals and dreams and wishes just like anybody else. We try to live as normal of a life as possible.”

Nick will never let SMA define him.

He has a brilliant mind and lives his life to the fullest, with a positive attitude every day.

Dr. Clark says about one in 6,000 people in America have SMA, and it affects about 10,000 to 25,000 people today. He also shared that every newborn in American is now screened for the condition, and for those babies who have SMA, they are now treated right away.

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To learn more about SMA Awareness Month, you can visit this link.

Celina Pompeani