Sharing a Story of Hope
Posted on by Dr. Francis Collins
Whether by snail mail, email, or social media, it’s the time of year for catching up with family and friends. As NIH Director, I’m also fortunate to hear from some of the amazing people who’ve been helped by NIH research. Among the greetings to arrive in my inbox this holiday season is this incredible video from a 15-year-old named Aaron, who is fortunate enough to count two states—Alabama and Colorado—as his home.
As a young boy, Aaron was naturally athletic, speeding around the baseball diamond and competing on the ski slopes in freestyle mogul. But around the age of 10, Aaron noticed something strange. He couldn’t move as fast as usual. Aaron pushed himself to get back up to speed, but his muscles grew progressively weaker.
Doctors at the University of Alabama at Birmingham (UAB) performed numerous tests to see what was wrong. They turned up nothing definitive, and a neurologist finally advised Aaron’s parents that their only child probably had some form of muscular dystrophy. He also delivered the heartbreaking news that there currently are very few effective treatments for the muscular dystrophies, and Aaron would probably soon lose his mobility.
In 2015, at the neurologist’s suggestion, Aaron’s parents enrolled him in a clinical trial at the NIH Clinical Center here in Bethesda, MD to learn more about kids with genetic nerve and muscle disorders, including the muscular dystrophies. The study, led by Carsten Bönnemann of NIH’s National Institute of Neurological Disorders and Stroke, wouldn’t necessarily lead to a definitive diagnosis or a miracle treatment. But Aaron wanted to participate to help kids in the future get the treatments that they need.
That’s when Aaron’s life took a miraculous turn. Before the family flew from Alabama to Maryland, Payam Mohassel, a member of Bönnemann’s clinical team, noticed subtle features in one of Aaron’s previous muscle biopsies suggesting he might have a rare autoimmune disease called anti-HMGCR myopathy. The condition occurs when, for unknown reasons, the immune system erroneously attacks an enzyme present in a child’s muscle fibers. (The same enzyme is also the target for statins, a drug commonly prescribed to lower bad cholesterol. Some adults who take statins can also develop anti-HMGCR myopathy ).
Mohassel shared his discovery with others on the clinical team and with his colleague Andrew Mammen of NIH’s National Institute of Arthritis and Musculoskeletal and Skin Diseases, who is an expert on anti-HMGCR myopathy. When Aaron and his parents arrived at NIH, Mammen was there to join in the initial examination. At the time, Aaron was so weak that he couldn’t even lift his head or legs off the exam table.
Mammen took a few samples of blood from Aaron and went to his lab to test them. He came back with some profoundly significant news: Aaron did indeed have anti-HMGCR myopathy, not muscular dystrophy. Best of all, many people with the condition get better with monthly infusions of normal human antibodies to modulate the immune system. So, Aaron was promptly started on a treatment of infusions of intravenous immunoglobulin (IVIG) .
To see what happened in the past two years, just watch Aaron’s video. Spoiler alert: he’s clearly back in the game! Now a freshman, Aaron is an avid mountain biker and wakeboarder. He also plans to resume playing high school baseball next spring.
Happy holidays, Aaron, and heartfelt thanks for sharing your wonderful story of NIH research in action. All of us at NIH are wishing the best to you, your family, and the many other brave volunteers taking part in the clinical trials that are making possible the next generation of medical breakthroughs.
 Statin-associated autoimmune myopathy. Mammen AL. N Engl J Med. 2016 Feb 18;374(7)664-669.
 Anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase necrotizing myopathy masquerading as a muscular dystrophy in a child. Mohassel P, Foley AR, Donkervoort S, Fequiere PR, Pak K, Bönnemann CG, Mammen AL. Muscle Nerve. 2017 Dec;56(6):1177-1181.
Myopathy Information Page (National Institute of Neurological Disorders and Stroke/NIH)
ClinicalTrials.gov (National Library of Medicine/NIH)
Muscle Diseases Unit (National Institute of Arthritis and Musculoskeletal Diseases/NIH)
Carsten Bönnemann (NINDS)
NIH Support: National Institute of Neurological Disorders and Stroke; National Institute of Arthritis and Musculoskeletal and Skin Diseases; NIH Clinical Center
My husband has IBM (inclusion body myositis). Many years ago he was given a couple of IVIG treatments. I believe that is the only reason he is still alive. I could see a difference, but sadly I was alone in that. I tried to get him more treatments, but could not. I firmly believe it is the best medication and I have never heard of bad side effects. My husband is now 88 years old against all odds.