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An essay on choosing hope in life with a progressive, degenerative disease
I hate muscular dystrophy. In my darker moments, I want to scream into the void of the universe — until I remember that I can’t scream anymore. In crowded spaces, others often can’t hear me, so I remain quiet. This goes against every fiber of my being; everyone who knows me knows how much I…
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Young Leader Living with Muscular Dystrophy Champions Aiming High and Setting Goals
Harvard graduate Caroline LeMay’s education helped pave the way on her quest for success. Now, she is dedicating her career to increasing access to education for others. Caroline LeMay, her husband, and their dogs The 27-year-old already has an impressive résumé, with positions as a financial analyst for J.P. Morgan Markets, a special advisor to…
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A Guide to RNA-Targeted Therapies
A Guide to RNA-Targeted Therapies The post A Guide to RNA-Targeted Therapies appeared first on Quest | Muscular Dystrophy Association.
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RNA Therapies Offer Keys to Treating Genetic Neuromuscular Diseases
While DNA holds our genetic code, RNA plays a vital role in gene expression. Researchers are discovering new ways to use RNA to correct genetic changes that cause diseases. For example, in type 1 myotonic dystrophy (DM1), a variety of symptoms all stem from a single source: incorrectly produced, toxic proteins. As bricks are to…
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Understanding Thymidine Kinase 2 Deficiency
Thymidine kinase 2 deficiency (TK2d) is a life-threatening form of mitochondrial myopathy. These diseases affect mitochondria — the energy factories of our cells — leading to muscular problems. TK2d is very rare, affecting fewer than 2 per 1 million people worldwide. Yet in a milestone for mitochondrial myopathies, the US Food and Drug Administration (FDA)…
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Expert Tips for Handling an Insurance Claim Denial for Gene Therapy
When Alison Joseph and William Small’s two youngest sons were diagnosed with Duchenne muscular dystrophy (DMD) in 2017, they were told there were no treatment options. The Small Family “Because of their specific mutation, they didn’t qualify for exon-skipping or gene therapy trials. We were just doing standard-of-care steroids, hoping for something new,” Alison says.…
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Considering a Clinical Trial? 4 Things to Know Before You Enroll
For people living with neuromuscular diseases, few things bring more hope than progress in research, whether it leads to a new therapy or a deeper understanding of a diagnosis. Each advancement represents years of scientific work — and the dedication of those who volunteer for clinical trials. While exciting, enrolling in a study is a…
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What Is a VUS? Variants of Unknown Significance in Genetic Testing and Why They Matter
Chris Weihl, MD, PhD New genetic testing technologies are improving the diagnostic journey for many people with neuromuscular diseases. Now, doctors can test 100 or more genes simultaneously when they suspect a patient may have a muscular dystrophy or other inherited neuromuscular disorder. According to Chris Weihl, MD, PhD, a neurologist and Director of the…
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Roche stopping bone health program in Duchenne
Roche has decided to stop recruitment for their Phase 2 SHIELD DMD study of satralizumab in Duchenne, citing the decision was not due to any new efficacy or safety issues, but rather due to feasibility concerns with meeting regulatory requirements, as well as recruitment and study completion deadlines. Please see the community letter for more information, including next steps for…
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I have new criteria for when my sons participate in DMD clinical trials
As a caregiver to three sons living with Duchenne muscular dystrophy (DMD) and a mother to four other children, I have learned a lot over the years. Today, I want to use that knowledge and experience to give back to the community. Being a part of the Duchenne community has been like a buoy to…
