Former attorney works to bring resources to those with rare genetic disease

Mark Christman had people around him, but he still felt lonely.

“When you have a rare disease, it makes you feel alone,” said Christman, who was diagnosed in 1977 with facioscapulohumeral muscular dystrophy, or FSHD, a genetic disorder that causes weakening of the skeletal muscles. “I had never met another person with this disease until 2014. That is a long time. So when I did meet someone – it is so hard to describe –I felt an instant connection.”

Creating that connection between others and helping to take away that loneliness is why Christman founded the Western Pennsylvania chapter of the national FSHD Society.

A fundraising campaign is currently underway that includes an annual event – Drum & Roll to Cure FSHD – happening on Nov. 5 at the National Aviary in Pittsburgh’s North Side to help raise funds and make more connections for people like Christman.

The National FSHD Society was founded in 1991 by people afflicted with the disease. Christman started the local chapter five years ago. He said it continues to grow through an amazing core group of people whose mission it is to foster the connection.

It also strives to spread awareness.

FSHD typically begins in early adolescence with the loss of muscle strength in the face, shoulders, upper arms, legs or core. It can spread to any muscle.

An estimated 870,000 people worldwide have FSHD. About 20% of people, like Christman, will eventually need a wheelchair. There is no effective treatment or cure — but there is hope, he said. The condition is inherited and can affect many family members across generations, according to the organization, which provides education and outreach, funds scientific and medical research and advocates for increased government and industry investment.

The society has invested more than $6 million in research, contributing to the discovery of the genetic cause of FSHD and igniting interest by more than a dozen biotech companies in developing treatments.

Researchers are working to identify the biological mechanisms of the disease, build critical infrastructure to accelerate research, improve patient care nationwide and pave the way for clinical trials.

One of those trials is happening in Philadelphia. Roy Stang of Butler County is taking part. He was diagnosed at age 62.

“For me, it was one of the loneliest moments in my life,” said Stang. “I discovered what I call a lifeline — meeting Mark and the others from the Western Pennsylvania chapter. I have met people with the disorder who are really supportive, positive people.”

Stang said Christman is the connecting link to much-needed resources and overall information.

“I say he has helped connect the dots and by that I mean he brings people together,” Stang said. “It is kind of like when you are looking for a plumber or electrician or a contractor. You ask family and friends who they recommend and they say, ‘I have the perfect person for you.’ That person is someone you can trust. Well, the Western Pennsylvania chapter of the FSHD Society ‘has the person for me,’ someone I can trust.”

That trust has grown over time, said Christman, who grew up in Indiana Township and lives in Whitehall.

”It is so fun when we all get together,” Christman said. “We talk about what helps us get through a day and which medical devices help us. It’s about sharing.”

They share information and challenges. Navigating in a wheelchair is not always easy, Christman said. But he has learned the best way to keep moving forward is to look at what’s in front of you and to stay positive.

There are webinars that teach life hacks and ongoing drug therapies.

“The organization is the pipeline,” Stang said. “The society helps you navigate. I don’t feel like I am going on this journey by myself. But there was a time I did feel that way.”

Christman knows that feeling. A retired business attorney and board member of Trib Total Media, he recalled the first conference held by the national organization.

“It was a room full of strangers, and I felt like they were my friends,” he told the Tribune-Review. “My wife is just the best thing that ever happened to me in my life, and I love her dearly — but I still felt alone. Everyone’s experience of the disease is different. But having someone who’s shared some of your experiences is a really special thing.”

Connecting with someone who is living with the same condition makes things easier because you can tell that person something and they get it because they’ve been there, said Christman, who turns 63 on Oct. 23.

“I am a private person,” he said. “But I decided the best way to reach people is to share. One of the great things is when you find a charity that you care about when you give back to that charity it benefits not only you, but other people in similar situations.”

Western Pennsylvania Drum & Roll to Cure FSHD takes place 1 p.m. Nov. 5 at The National Aviary’s Garden Room on Pittsburgh’s North Side.

Entertainment will be provided by Yamoussa Camara of Camara Drum and Dance. There will be a Pittsburgh cookie table and a visit by Penguins mascot Iceburgh. Guests will receive free admission to The Aviary.

Win a $1,000 Omni Hotels gift card with a $100 donation. Must be present to win.

Admission is free, donations are suggested.

Details: fshdsociety.org