Adam MacDonald is probably the oldest Mainer living with Duchenne muscular dystrophy, and he’s part of a younger generation finding new ways to keep living, according to his mom, Cheryl Morris.
MacDonald turns 31 on Oct. 20, 25 years after he was diagnosed with the genetic muscular degenerative disease. “He didn’t think he would see this day,” Morris said. “His heart doctor in Bangor thinks Adam is the oldest living young man in Maine with Duchenne.”
The Duchenne muscular dystrophy affects an estimated 15,000 boys in America, and until recently most did not survive much beyond their teen years, as the disease leaves them unable to make dystrophin, a protein needed for the body’s muscle system.
MacDonald has lost three friends to Duchenne in recent years, and his 31st birthday dinner and fundraiser on Oct. 21 at Campers Paradise in Westfield is dedicated to their memory. Nick Davis of Rockport died in November 2009 at the age of 17, and Corey Atwood of Bucksport in April 2014 at the age of 25. In June, his close friend Delmar D.J. Murphy of Presque Isle died at the age of 25 — remembered as a dog lover, video game and computer enthusiast and adaptive outdoor sportsman.
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MacDonald and his mom say they are optimistic about the future, especially in the wake of the Food and Drug Administration’s approval on Sept. 19 of the first treatment that aims to slow progression in Duchenne muscular dystrophy by helping patients make the needed dystrophin.
The new drug, Exondys 51 or eteplirsen, is targeted at the estimated 13 percent of Duchenne patients with a genetic mutation that skips the 51st part in the section of chromosome in a gene responsible for making dystrophin. Going against the advice of its advisory committee, the FDA approved the drug — now priced at around $300,000 a year — under an accelerated approval program, following support from patients, families and the drug maker, Sarepta Therapeutics of Cambridge, Massachusetts.
The accelerated approval process was based on a study finding an increase in dystrophin in muscle observed in some patients, although there was skepticism from medical researchers, including FDA staff, about the drug’s long-term effectiveness, and further research is still required.
MacDonald is not among the 13 percent that is targeted by the drug. His genetic mutation skips the 60 place on the chromosome scale, Morris said. But they’re hopeful that the drug’s approval is a good sign for other drugs under research, including one that would treat multiple mutations.
“Even though the drug is not going to benefit Adam, it still shows me that it will open up doors for other drugs as a treatment or cure for all Duchenne patients,” Morris said.
For rare diseases, those with less than 200,000 patients, the research and interest from drug companies have traditionally been sparse. Morris said she was happy to see a new treatment become available, but was somewhat dismayed at the discussion of the drug in stark business terms in the media and government.
“We Duchenne families feel these big pharmaceutical companies aren’t looking at how these drugs can make a difference in the lives of children and adults and can even save lives.”
Despite the lack of an adequate treatment that addresses muscular dystrophy, MacDonald and others are benefiting from a range of other treatments for the impacts of the disease. Heart and lung problems are the two leading causes of death in Duchenne patients, and develop when their involuntary muscles become too weak to maintain their function, Morris explained.
A devoted advocate and caregiver, Morris has become an expert in her son’s disease, treatments and research, and she is connected to the larger community of Duchenne families sharing their experiences and knowledge through Facebook. “If you don’t keep up on the research you’ll miss out on things,” Morris said.
Morris and one of MacDonald’s doctors recently convinced him it would be a good idea to sleep with a BiPAP machine, a device similar to those used for sleep apnea which helps keep open the throat.
The BiPAP machine has helped mitigate MacDonald’s cardiomyopathy, a common condition for Duchenne patients that leads to scar tissue in the heart. “He went from almost in heart failure stage to improved just with the BiPAP machine,” Morris said.
They’re also researching other potential treatments, including a trial of a Duchenne patient with cardiomyopathy using stem cell therapy to heal heart tissue. “It could benefit him as an old Duchenne man,” she said. “We try to stay positive, looking at all possibilities.”
Adam MacDonald’s 31st birthday will be celebrated with a hot dog dinner and fundraiser for Duchenne research beginning at 6 p.m. Friday, Oct. 21, at Camper’s Paradise in Westfield.