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AANEM Foundation News Express

Growing Up With FSHD: A Young Woman's Effort to Raise Awareness About the Rare Neuromuscular Disease

Lexi-Pic-1.pngWhen Lexi Pappas was 11 years old, she started showing symptoms of facioscapulohumeral muscular dystrophy (FSHD). Her scapula, more commonly known as the shoulder bone, began protruding, resulting in pain and embarrassment for the middle schooler. However, these symptoms didn’t come as a surprise to Lexi or her parents. FSHD runs in their family.

FSHD is an inherited disorder of muscles. Symptoms include gradually increasing face, shoulder, abdomen, hip, upper arm, and lower leg muscle weakness. The weakness may become more generalized as the disease progresses. This weakness is not equal on both sides of the body. The onset may be anytime from childhood to adulthood, but usually appears in the teen years.

“Over time, things have just gotten more difficult,” Lexi said. “Walking up the stairs, bending over, getting out of a chair becomes more difficult. I guess it's just more of a part of my life now.”

FSHD has had a significant impact on Lexi’s life. One impact that was particularly frustrating for Lexi was not being able to participate in sports because of her mobility restrictions and weakness. Despite those frustrations, Lexi hasn’t let FSHD stop her from having a bright, meaningful future.  

During her senior year of high school and her college years, Lexi filmed, edited, and published a documentary called “Growing Up With FSHD.” The documentary details what it’s like to live with FSHD and to be a young adult with a disability.

“I wanted to do something to make an impact on the FSHD world, and that documentary has led to almost everything I've done now,” she said.

Now 26, Lexi has turned the opportunities she was given following the documentary’s release into a career of video production and activism work.

“Growing up, I always wanted to be in video, I just never really knew I could,” said Lexi. “And then it kind of all fell into place.” 

Lexi runs a YouTube channel full of candid videos. Through her video production work, she has also dabbled in comedy and nonprofit editing. One of Lexi’s main goals is to continue telling important stories through documentaries.

“I would love to make documentaries about different rare diseases or different disabilities, and actually tell other peoples’ stories,” she said. “Video is such a great way to spread awareness and capture the real story without all the medical jargon.” 

One aspect of FSHD that can be especially difficult for Lexi to deal with is the toll it takes on her social life.

“The biggest struggle for me is knowing that I can't do things like just being able to walk around a city and see the different attractions or join a kickball league at work,” she said. “I hope that FSHD doesn’t affect my career, but it definitely is going to affect having kids.” 

While FSHD doesn’t shorten a person’s lifespan, babies born to a parent who has FSHD have a 50% chance of inheriting the disease. Pain is the most common complaint with FSHD, but hearing loss, inflammation and other symptoms may be present as well. Lexi went to physical therapy early on, but there was a long stretch of time where she wasn’t seeing doctors for FSHD, since the visits weren’t offering her much help.

“I've talked to a lot of other people and they have found relief from certain things, but I have never really found any pain relief from medications,” Lexi said.

In 2015, Lexi decided to undergo scapula fusion surgery as a preventative measure. While Lexi could still lift her arms up at the time of the surgery, she couldn’t hold them up and wanted to ensure future mobility. Since then, Lexi has started seeing a medical professional annually to monitor her condition. She even got her first official diagnosis this past year, making her the first in her family to be formally tested for and diagnosed with FSHD.

“Not only did the diagnosis offer some peace of mind, but I was starting to worry ‘Oh my goodness, what if I have a different kind of muscular dystrophy?’”

As Lexi continues to navigate her life with FSHD, there will inevitably be more challenges along the way. Regardless of what the future holds, Lexi is determined to keep raising awareness about FSHD, as well as other rare diseases and disabilities.

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 Lexi with hope for a cure. Even a small donation makes a big difference. Visit www.neuromuscularfoundation.org to donate and join the global effort to cure NM disease!


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