Pittsburgh family leads global fight against little-known RYR-1 disease
In July, the foundation will host its fourth International Family Conference at the Hyatt Regency Pittsburgh International Airport for RYR-1-affected children and adults.
Dr. Michael Goldberg was 30 and a resident physician at the University of Pennsylvania School of Medicine before he finally learned the cause of the muscle weakness that had plagued him since childhood.
A workup by a world renowned medical geneticist revealed that Goldberg had been born with RYR-1, a rare disorder for which there is no FDA-approved treatment and no known cure.
Now 49, Goldberg and his wife, Lindsay Goldberg, of Mt. Lebanon, are working to change that through the RYR-1 Foundation that they and Michael’s parents launched in 2014. In its mission to support research and raise awareness of the historically underexplored disease, the foundation has so far raised more than $6 million and awarded over $1.5 in grants aimed at unraveling some of RYR-1’s mysteries.
In July, the foundation will host its fourth International Family Conference at the Hyatt Regency Pittsburgh International Airport for RYR-1-affected children and adults, and a two-day workshop for physicians, genetic counselors and other RYR-1 experts from around the world.
“These conferences are life-changing,” said Lindsay Goldberg, 41. “Researchers get to meet who they are doing their work for. And families are receiving resources. This is the sort of community building you can’t put a price on.”
RYR-1 is an inherited disorder affecting the muscles that control voluntary movement. It occurs as a result of mutations in the RYR-1 gene, which plays a critical role in muscle contractions, causing a range of congenital myopathies.
“There is a vast spectrum to the disease,” Michael Goldberg said, noting that RYR-1 can manifest in a variety of ways.
Some people with RYR-1 are in wheelchairs, while others are mobile but lack muscle tone or have difficulty chewing and swallowing. Still others have markedly increased muscle mass and strength — like retired NHL player Cody Hodgson, who now is a foundation spokesman — but are at risk of potentially deadly muscle breakdown (rhabdomyolysis) when exercising in hot weather. They also may react to anesthesia during surgery with an uncontrolled rise in body temperature (malignant hyperthermia) that can be fatal. Some people with RYR-1 experience significant muscle pain.
As part of his own journey with the disease, Michael Goldberg describes having been “a typical boy growing up, loving and wanting to play sports, although,” he said, “I wasn’t very good. Running to first base or on the soccer field I was slower than other kids, which opened me up to ridicule. I was the last kid picked for teams.”
He carried a backpack to school but had to allow extra time to climb stairs. “I worked as hard as I could at everything I did, including gym,” he said. “And it was a different era. There was less awareness of people with special needs. You’d just do your best and not make excuses.”
Although his mother and physician father took him to a series of specialists, none diagnosed what he had. The RYR-1 gene was sequenced in 1988, when Michael Goldberg was 13, and it has taken decades, he said, “for scientists to appreciate the range of manifestations associated with mutations in the gene.”
And while genetic testing has improved and become more accessible, misdiagnoses of RYR-1 and other diseases like muscular dystrophy, myasthenia gravis and multiple sclerosis remain common, especially among less severely affected or older individuals, Michael said.
“If you have unexplained muscle weakness make sure you are going to a reputable specialist and not an untrained professional.”
Despite the challenges of living with RYR-1, Michael Goldberg works full time as director of neuroradiology for the Allegheny Health Network, and enjoys a robust family life with his wife and sons, ages 7 and 10.
Although he avoids certain activities like climbing stairs, cooking and shoveling snow, he and his wife have adapted their home to make everyday life easier, including installation of an elevator. They find outings to sporting events and restaurants are doable with a little logistical planning and have scheduled a family trip to London for later this year.
“Living with RYR1 modifies the way you think and deal with life,” said Lindsay Goldberg, who learned about her husband’s disease on their second date 18 years ago. “But I’m now on cruise control. Dealing with the disease has become second nature.”
A can-do attitude is essential to living fully with RYR-1, said Marcie Epstein of Romansville, Chester County, who is raising her son Jackson, 16, to believe that he can accomplish “whatever he sets his mind to” despite having the disease.
“I told him we are not going to limit you. We are not going to say ‘no.’ If there’s something you want to do, we’ll figure out how.”
The Epsteins have been involved with the Goldbergs’ foundation for years and will travel to Pittsburgh for the conference in July.
“To connect with other families who are affected and who understand is invaluable,” Epstein said. ‘When we get together we’re like ‘How did you handle this? What did you do about that?’ There’s not a lot of information on RYR-1 out there so to get into a room with experts who dedicate their lives to researching your disease is so important. It gives you hope.”
How many people are living with RYR-1 isn’t known, although Michael Goldberg believes the number is far greater than the 1 in 90,000 typically quoted. The foundation recently commissioned a study by researchers at Kings College of London aimed at determining RYR-1 prevalence.
Anecdotally, RYR-1 appears to occur equally among men and women, and to occur more among individuals of European descent than Latinos, Asians and African Americans, Michael Goldberg said, noting that some data suggests that certain mutations of the RYR-1 gene may be more common among Ashkenazi Jews. PJC
Deborah Weisberg is a freelance writer living in Pittsburgh.
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