CUMBERLAND COUNTY, Pa. — Nicole Moore of Cumberland County is accomplishing goals she previously thought were impossible. Thanks to a revolutionary at-home treatment, she’s becoming more independent and appreciating the little victories.
Getting a driver’s license isn’t a typical accomplishment for a 29-year-old. But for Moore, it’s a milestone she never thought was possible.
“My thing always was I didn’t want to learn how to drive, be able to drive for a couple of years and then not have enough arm strength to do it,” Moore said.
Moore suffers from spinal muscular atrophy (SMA), a disease that affects one in 10,000 Americans.
“It’s a neuromuscular disease, so it affects all the muscles in the body, except really the heart,” Moore described.
According to Cure SMA, it’s estimated more than 260,000 Pennsylvanians carry genetic disease in some capacity. The gene for the disease can be detected before or shortly after a child is born. In the past, SMA was difficult to treat after birth due to a lack of available medications. SMA has no cure.
“It’s kind of the more common of the rare disease,” Moore adds.
She lost the ability to walk in the first grade and her condition progressively worsened as she got older. The muscles of a person with SMA wear down more rapidly over time than someone without the disease. This can cause the loss of other life functions such as breathing, swallowing, and arm function.
In 2021, Moore began her journey with the new drug Evrysdi, developed by Genentech. It’s the first at-home treatment for SMA approved by the Food and Drug Administration. As of writing this article, it is the only oral treatment available.
“With the Evrysdi, it kind of halts the progression of the disease,” Moore said.
The drug improved Moore’s condition over time.
“It’s hard to say I kind of woke up one day and say, ‘oh I was able to do this,’ it was more like I noticed my arms don’t get as tired so easily throughout the day, I have a little but more trunk control,” Moore said.
In February 2023, she received her driver’s license and purchased her first vehicle. She hopes to hit the road in December after her car is retrofitted to accommodate her wheelchair. Total Mobility Services in Harrisburg are expected to complete the conversions. Moore says she’ll be able to operate the vehicle similarly to how she operates her wheelchair.
“Most people are like, ‘that’s not a big deal,’ but it is to us because it’s something I wasn’t able to do before, or it was something I was able to do a while ago, lost the ability, but now I got it back,” Moore said.
In the meantime, Moore will continue to live at her home with her parents.
She and her family enjoy frequent trips to Disney Land in Florida, where she’s also able to ride rides she couldn’t before she started her treatment. She also works part time at Chocolate World.
