Mark J. Christman continues to wait, but time is of the essence.
Ongoing research and clinical trials are underway, but the U.S. Food and Drug Administration has not yet approved any treatments to stop the progression or increase muscle mass in people with facioscapulohumeral muscular dystrophy (FSHD), a genetic disorder that weakens skeletal muscles.
“The hard part is waiting,” said Christman, who was diagnosed in 1977. “It is harder when you’re getting weaker and weaker because you have less time to wait.”
FSHD is the fourth most common type of muscular dystrophy, said Dr. Nicholas Johnson, professor and vice chair of research and neurology at Virginia Commonwealth University.
Multiple companies are working on possible therapies and since they know what causes the disease, that helps in the development of a treatment, Johnson said. Avidity Biosciences is working on a therapy that is promising, he added.
“Drug development doesn’t always work the way you want it to,” Johnson said. “But the good news is with multiple trials going, we are optimistic we are going to find one that is going to work.”
Johnson said having a resource such as the FSHD Society, which provides education and outreach and funds scientific and medical research, is a great way to connect with others who understand.
“Be patient,” Johnson said. “This takes time. It’s a process but we are buoyed by some positive responses.”
A way to help in the meantime is through fundraising — which is important because drug development is quite expensive, Johnson said.
Christman continues to do his part to raise money and be an advocate to create awareness of the disease. One focus is on an annual fundraiser — the Western Pennsylvania Drum & Roll to Cure FSHD — to raise funds for resources, research and one day, a cure. The event is Nov. 3 at the National Aviary on Pittsburgh’s North Side.
Performing at the event will be Jeannette native and musician Rob Stemple, who lives in Shaler. He was diagnosed with FSHD at age 14 and lost his eyesight in a car crash with a drunken driver in 1989. He said his wife Wendy and their three children, Jill, Nicole and Ryan, as well as church members, are the reason he is able to get to his gigs at nursing and personal care homes and assisted living facilities.
Stemple will be playing background music of familiar tunes from artists such as Billy Joel and Elton John.
“I am going to keep playing music as long as I can do it,” Stemple said. “Music has always been a part of my life and I am honored to play music for the Drum & Roll event. It is so nice to be around people who get what you’re going through. Every day I am here is a blessing. We need to find a cure for FSHD.”
Stemple and Christman are two of an estimated 870,000 people worldwide who have FSHD. The condition is inherited and can affect many family members across generations. There is no effective treatment or cure.
About 20% of people with the disorder, like Christman, will need a wheelchair, according to the FSHD Society.
Christman, a former real estate and business attorney and Trib Total Media trustee who grew up in Indiana Township, has become a dedicated advocate for people with FSHD. After not meeting anyone else with the disease until 2014, he decided to establish a local chapter to support others with the condition. Christman traveled to Washington, D.C., this year to talk to congressional lawmakers and bring awareness to patients who have FSHD. He has helped raise nearly $150,000.
The goal of this year’s Western Pennsylvania Drum & Roll to Cure FSHD is $80,000. Money is needed because a trial for a therapy that was in process had to be halted because of conflicting results. A new one has begun but will need more time to see if it will be effective, which means more waiting.
That is why the setback of a trial that was moving along has been emotional for Christman, of Whitehall, and his wife Renee and their children Zachary, Rachel and Leah, who is expecting their first grandchild in February.
“Despite the setback, there is still a lot of forward momentum,” said Christman, who was recognized for his commitment to FSHD advocacy with the Whitehall Man of the Year award this summer.
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“It is about staying positive,” said FSHD Society’s chief community engagement officer, Beth Johnston, whose husband Jeff has FSHD.
Johnston said all the past research, even if it hasn’t ended in viable therapies to slow or stop or prevent FSHD, is part of paving the way for upcoming therapies. There are several trials in process, one of which has shown very promising preliminary results.
A link to a drug development pipeline can be found here.
The FSHD Society has funded more than $12 million in research initiatives, including identifying the genetic mechanism, the development of animal models, validation of clinical trial endpoints and early-stage drug discovery research.
“There have been some hiccups and that may have delayed the therapies and I know that can be devastating and it takes a little bit of wind out of the sails but we have to stay hopeful,” Johnston said.
Christman remains hopeful. One of the toughest parts of waiting, he said, came when is friend Walter Mark Shoemaker, who had FSHD, died in May from complications from pneumonia. Shoemaker’s family members told Christman how much the support he gave to Shoemaker meant to them.
“When you lose a friend with FSHD it is hard not to think about yourself,” said Christman. “My lungs are still pretty good but I am scared to get pneumonia. Losing Mark makes it even more real and the waiting that much more difficult.”