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What’s the Toy Story?

Barbies were a favorite toy of young Jessica Hetzel, despite the fact that the dolls looked nothing like her. It took until February 2019, when Jessica was 17, for Mattel to release a Barbie in a wheelchair. “I’m not playing with Barbies these days,” says Hetzel, who has spinal muscular atrophy (SMA). “But I was excited to see they finally did it.”

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More Than a Game

A typical weekend day for me starts off with my partner or caregiver feeding me breakfast (Cheerios with milk on the side) and ends with me falling asleep to an episode of “Cutthroat Kitchen.” In between these moments, I game with friends from all over the country. Gaming has been part of my life since the 1980s. I grew up playing on all the major gaming systems and had a constant slew of competitors in my brother and neighborhood friends. But as congenital muscular dystrophy (CMD) affected my body over the years, and as game controllers became more complex, I started having trouble keeping up with my peers.

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Ongoing Clinical Trials

During the second day of the 2019 MDA Clinical & Scientific Conference, 14 scientists and clinicians shared exciting updates from the pipeline of clinical trials. Below are highlights from the session.At the time of the conference, Zolgensma (onasemnogene abeparvovec-xioi, or AVXS-101) was under review by the U.S. Food and Drug Administration (FDA). In May, the FDA approved the drug as a therapy for the treatment of children younger than age 2 with spinal muscular atrophy (SMA).

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The Case for Newborn Screening

Newborn screening allows babies born with life-threatening diseases to be treated before they show any signs of disease, which can lead to improved outcomes and maybe even a life free of symptoms.As therapies for neuromuscular diseases progress through the clinical pipeline and get approved by the U.S. Food and Drug Administration (FDA), the importance of newborn screening is heightened. Currently, it is recommended that states screen for Pompe disease and spinal muscular atrophy (SMA), and a screening for Duchenne muscular dystrophy (DMD) could be on the horizon. But despite these advancements, some states face implementation challenges due to scientific, economic and operational considerations.

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Care Across the Lifespan

The patient journey starts with a diagnosis and often involves pediatric-to-adult transition, clinical follow-ups and multidisciplinary disease management. In recent years, the care model for neuromuscular disease has evolved into a patient-centric treatment approach, in which individuals are driving their own care decisions.

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From Drug Discovery to Delivery

MDA was honored to have Janet Woodcock, M.D., director of the Center for Drug Evaluation and Research (CDER) at the U.S. Food and Drug Administration (FDA), present the keynote address at MDA’s 2019 Clinical & Scientific Conference. Her department, the CDER, oversees most human trials with investigational drugs — those not yet approved or not approved for a particular indication —– and conducts post-market safety surveillance for all drugs on the market to see if new safety findings occur once the drug is being widely used.

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The Ups and Downs of Accessible Air Travel

Cory Lee, who lives with spinal muscular atrophy (SMA), has explored 32 countries in the past five years. While traversing the globe in his 300-pound power wheelchair, Lee writes about accessible travel on his blog curbfreewithcorylee.com, which has garnered thousands of followers. The No. 1 topic people ask him about is air travel.

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Targeting Genes

Until the 1980s, little was known about the cause of any neuromuscular disease. In 1986, MDA-supported researchers identified a single gene on the X chromosome that leads to Duchenne muscular dystrophy (DMD) when it is mutated (flawed). In 1987, the protein associated with that gene was identified and named dystrophin. Lack of the dystrophin protein in muscle cells causes them to be fragile and easily damaged.

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Guiding Treatment for Myotonic Dystrophy

Myotonic dystrophy (DM) is the most common form of muscular dystrophy in adults. This is a complex disease, affecting not just the muscles, but nearly every other organ system in the body. The signature manifestation is myotonia, an inability to consciously relax the muscles, coupled with progressive muscle weakness.

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Pushing Limits

After six long days, I’m tired. It’s the middle of the night, I’m wearing five layers of clothing and I know I have several more hours to go in the frigid air before I reach the 19,341-foot summit. “Mom believes in you. Dad believes in you. All of your friends and family believe in you. You are strong,” are the words that echo through my mind with every step.

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MDA Resource Center: We’re Here For You

Our trained specialists are here to provide one-on-one support for every part of your journey. Send a message below or call us at 1-833-ASK-MDA1 (1-833-275-6321). If you live outside the U.S., we may be able to connect you to muscular dystrophy groups in your area, but MDA programs are only available in the U.S.

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