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Quest Issue 3, 2019 -
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2019 Conference Edition -
Quest Issue 1, 2019
Recent Quest Articles
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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Facebook, Friends and Fundraising
When Ethan Och decided to host a Facebook fundraiser for his 21st birthday last year, there was no question of what organization he was going to support.“What came to mind above all other things was MDA because they’ve helped me do cool things over the years,” he says. Diagnosed with spinal muscular atrophy (SMA) when he was 1 year old, Och fondly remembers the time he spent at MDA Summer Camp during his childhood. In addition, MDA assisted his family in getting vital pieces of medical equipment, as well as offering priceless support and education over the years.
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What Happened to You?
“What happened to you?” The question became familiar to me as a child while the young, curious faces stared at my power wheelchair.I wanted so badly for my peers to see me as a “normal” kid, yet there was nothing I could do to mask my differences.I have spinal muscular atrophy (SMA), a genetic condition caused by a mutation that affects muscle use. Only 1 in 11,000 people are born with this condition.
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Making the Workplace Accessible
When Josh Moser transitioned from college to a career 10 years ago, having Duchenne muscular dystrophy (DMD) was a concern he wasn’t quite sure how to handle. He felt nervous talking about his needs, he recalls, worried that it might sabotage his job prospects. Fortunately, the financial services firm where he was temping appreciated his work and asked him to apply for a full-time position as a processing associate. After he accepted the offer, the company worked with him to make sure he could perform his job duties effectively.
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Be Prepared
When a medical emergency occurs — and the patient is a person with a neuromuscular disease — it’s not just getting to the emergency department (ED) quickly that’s critical. It’s also critical to ensure the ED staff understands the patient’s particular needs.“Many emergency department physicians have a limited background in neuromuscular disease,” states Lisa Wolfe, M.D., associate professor of medicine in the Division of Pulmonary Critical Care and Sleep Medicine at the MDA Care Center at Northwestern University in Chicago. Unfortunately, many people don’t discover this potential problem until they’ve arrived for emergency care.
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News on LEMS Treatment and Research
In Lambert-Eaton myasthenic syndrome (LEMS), the immune system attacks the connection between nerve and muscle — the neuromuscular junction — and interferes with the ability of nerve cells to send signals to muscle cells.Specifically, the attack targets the calcium channels on nerve endings that are required to trigger the release of acetylcholine, a chemical messenger that triggers muscle contraction. With fewer calcium channels, the nerve endings release less acetylcholine. With low levels of acetylcholine, muscles do not contract normally, resulting in muscle weakness.
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The Independent Mindset
After Sandra Young was diagnosed with late-onset Pompe disease at age 52, she thought her life would change and she would no longer be able to do the things she enjoyed.“While my friends and family were living their lives, I was sitting on the sidelines missing out,” Young says. “It took me a year to realize I am the same person as before. I hit a stumble in the road, and it shouldn’t stop me from doing the things I want to do. I woke up and thought, ‘Girl, you can still do it, you just have to do it differently.’”
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Dollars for Scholars
The cost of higher education has soared over the past two decades. According to U.S. News & World Report, in-state tuition and fees at public universities have increased 243 percent, while they have jumped 168 percent at private institutions. For many prospective college students, winning scholarships is key to making education more affordable. The trick is thorough research. There are lots of scholarships out there, many of which are earmarked for individuals with particular backgrounds, students applying to particular schools, students pursuing particular fields of study and myriad other considerations. The best advice for students seeking financial assistance? Think broadly about how your situation applies to scholarships’ requirements and, above all, don’t be afraid to apply.
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Opening Doors
Three mornings a week, Karen Toenniss, 50, grabs the car keys and dashes off to her part-time position as coordinator for the MDA ALS Care Center at Houston Methodist Hospital. Nestled in her heart, she carries her husband’s memory. “Every time I save someone even a little bit of frustration as they deal with ALS, it feels like Mike is with me,” she says.
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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 services are only available in the U.S.
