Pittsburgh (KDKA) – August is attention month for SMA.
SMA stands for Spinal Muscular Atrophy. This is a rare neuromuscular disorder that starts in the central nervous system and affects all muscles in the body.
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People with SMA have lost nerve cells in the spine that tell them to move their muscles.
Nick Sinagra spent the rest of his life with SMA. It makes daily functions like eating, breathing, and speaking difficult.
Recently Nick tried a new treatment that changed his life better.
“A lot of people have told me I speak better than ever,” said Nick.
Nick says his quality of life has improved significantly, making it easier for him to speak, move his hands, brush his teeth, and eat.
This is due to Spinraza, the first FDA-approved treatment for SMA.
“Little things really help me,” said Nick. “It’s a boost of energy that I get right after the injection, and when I say it right away, I mean a few days.”
Dr. Joseph Clark of Punxsutawney Area Hospital, Nick’s neurologist, said SMA is a progressive disease and can be very serious in individuals.
“Before these latest ones came out, there was really no cure for it,” said Dr. Clark. “In fact, the drug improved my ability to control my wheelchair, do other things with my computer, speak, and breathe.”
Patients with spinal muscular atrophy lack spinal motor neuron protein, or SMN.
“You need this protein to be strong, it actually moves muscles. If you don’t have it, you will be weak, ”said Dr. Clark.
A weakness that Nick’s parents noticed when he was just six months old.
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Nick is currently being treated with Spinraza every four months. This increases the production of SMN protein, which is needed for muscle control.
“Spinraza (or Nusinersen) is actually an intrathecal drug given by lumbar puncture. Frequently at first, once every two weeks, or the first few times, then 30 days, then we do maintenance every four months, every four months, ”says Dr. Clark.
Dr. Clark says if you take it seriously, it’s basically gene replacement therapy.
“When I’m at work, I make phone calls, have Zoom meetings, talk. That means I have to be able to do it. Someone who can hear and understand me during these meetings. It’s necessary, and that makes it easier and more noticeable, ”said Nick.
Nick is a proud graduate of Duquesne University and currently has two full-time positions.
He is the Technology Director of PathVu and is in the process of starting his own business.
“It’s essentially about providing technology services to small businesses and nonprofits,” he said.
Nick has achieved a lot in his life and career and says he is very grateful for the support of his beloved family and friends.
“My parents, nobody really understands what they do for me every day. My brothers, you support 100%, 110% of everything I do. “I do,” says Nick. “We have goals, dreams and desires, just like everyone else. We try to lead a life as normal as possible. “
Nick never lets himself be defined by SMA.
He has a wonderful heart and lives positively every day to the fullest.
According to Dr. Clark has one in 6,000 people in the United States, and has SMA around 10,000 to 25,000 people today. He also said that all newborn Americans are currently being screened for their condition and that babies suffering from SMA will be treated immediately.
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Further information on SMA Awareness Month can be found at this link ..
A local businessman thriving thanks to pioneering treatment from SMA – CBS Pittsburgh
Source Link A local businessman thriving thanks to pioneering treatment from SMA – CBS Pittsburgh