Massachusetts Mom, Daughter Open Up About FSHD and How It Affects Their Lives

For years, Lexi Pappas hid the fact she had facioscapulohumeral dystrophy (FSHD) — a hereditary muscle wasting disorder that begins in the face and gradually spreads to the shoulders and upper arms, and sometimes also to the legs.

As the disease took its toll on Lexi — causing her to fall frequently and preventing her running, rock-climbing, skipping or even bending over — she began opening up about FSHD. Finally, in 2014, the young woman went public with her condition by starting a blog, and last year, on June 20 — World FSHD Day — she announced it to her Facebook friends.

Lexi Pappas, who, like her mother, has FHSD, keeps a blog about living with the disease. (Photo credit: Pappas family)

On that day, she posted this online: “In honor of today being World FSHD Day, I want to spread awareness about a huge part of my life. Most of you don’t know this, but I have FSHD, a form of muscular dystrophy. It’s affected my life now for about 10 years. My muscles are deteriorating and I can no longer do most of the things I could do as a child. From seeing my pictures, you probably can’t tell that I have a disability.”

“I’d been waiting to do it for a long time,” Lexi, 23, said of her Facebook post in an interview with Muscular Dystrophy News. “It’s actually really freeing, knowing that all these people know about my disability. It means I don’t have to hide it anymore. The more awareness I can spread, the more research we can get for the FSH Society.”

That Massachusetts organization, which advocates on behalf of Americans with FSHD, is based in the Boston suburb of Lexington — only a 45-minute drive from Gloucester, an old New England fishing port where Lexi lives with her mother, Diane.

Join the MD forums: an online community especially for patients with Muscular Dystrophy.

The most prevalent of the nine types of muscular dystrophy, FSHD is no stranger to these two women. Diane also has the disease, as did her father, anesthesiologist Edward A. Norris, who died in June 2016. Diane started showing signs of FSHD as a high-school senior in 1981. Her brother, six years her senior, has it as well, though his symptoms are more mild than Diane’s or their father’s.

Diane, 53, said that, as a mother with FSHD, she can understand Lexi’s frustrations better than a parent without the condition.

“Thank God I do have this disease, so my daughter doesn’t have to face it alone,” she said. “Lexi and I have a bond unlike I have with my other daughter that does not currently have any symptoms. My mom could not relate to me, and since my dad was a male, he could not really understand my issues of self-esteem, body image and clothing difficulties. Unfortunately, back in the ’90s, no one had a full understanding of the disease, and gene therapy for FSHD was not available.”

Worldwide, an estimated 870,000 people have FSHD. According to the FSH Society, previous studies had estimated its prevalence at around 1 in 20,000 people, though a 2014 Dutch study says the prevalence it’s more like 1 in 8,000.

With FSHD, muscle weakness often sets in asymmetrically, affecting only one arm or one leg, for example. Symptoms include an inability to whistle or sip through a straw; eyes that don’t fully close during sleep; difficulty doing sit-ups and pull-ups; shoulder blades that “wing” out; a curved spine (known as lordosis), and difficulty raising arms above shoulder height.

In May 2015, Lexi underwent scapula surgery on her right shoulder and, in December of that year, on her left shoulder as well. This gives her some reassurance that  — even if her FSHD progresses — she’ll continue to be able to lift her hand to her face (to eat and drink), “which is something that my grandpa could not do.”

Still, Lexi falls frequently, at least 20 times in the hallway of her former high school, by her own count. She also suffers from lordosis, which gives the appearance of pregnancy.

“I’ve been asked several times if I’m pregnant and that just takes a toll on me,” she said. “Every single time it brings my confidence down a level. It’s hard to walk around in confidence knowing that everyone thinks you’re pregnant. Also, the comments I get when I park in a handicapped spot are very annoying. People see me and automatically think I am not handicapped. I just wish people knew more about invisible disabilities.”

Lexi considers her blog, “Living With FSHD,” more for herself than for the public at large.

But she said she’s been encouraged by the outpouring of support — from her friends, her sorority, even people she’s never met — since launching it.

“This past year, I’ve gotten so many emails from people all around the world. It’s crazy how people find my blog,” she said. “Mostly, I’ve gotten a lot of questions about my surgery. I think people enjoy reading it, and it gives them motivation and hope for themselves. It can teach people to not take what they have for granted.”

Lexi graduated from Rhode Island’s Bryant University with a degree in marketing in May. She’s now an associate producer and editor with the TV team for the computer company, Dell.

“There are so many people I work with, that’s it’s hard to tell everybody about my disability,” Lexi told us. “I don’t know when to say it or how to say it, and I’m always worried that there might be things I’m unable to do. Even with business trips, I can’t put my carry-on bag in the overhead compartment by myself, so that’s always a challenge.”

Diane, a certified divorce financial analyst, runs her own business, Solutions for Divorce, as well as her own blog, “Untying the Financial Knot.”

“After my divorce, I reinvented my life and went from a stay-at-home mom to a successful, accomplished businesswoman in only six years,” she said. “My girls look to me as their role model, which makes me feel incredibly proud and loved.”

Meanwhile, Diane says she and her fiancé are building a house with an elevator for herself and her daughter, since both have difficulty walking up and down stairs.

Last November, while attending a patient conference in Boston, she learned that most of the scientific advances in understanding FSHD have been made within the last 10 years.

“My daughter has actually inspired me to be more open about our disease and she is definitely braver than I ever was growing up,” Diane said. “My advice to other parents in this situation is to just support your children, listen to what they have to say, don’t make a big deal out of it, show empathy, but do not feel sorry for them or for you. It’s not easy to do, but feeling sorry for yourself will not help anyone.”