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.”Read More
In Good Hands
All parents need time to themselves, but for BJ Mirabile of Winchester, Mass., finding child care for her daughter Katie, who has spinal muscular atrophy (SMA), often proved difficult. “When she was younger, we had some neighborhood sitters and sitters through early intervention,” Mirabile says. But early intervention services are for babies and toddlers with developmental delays or disabilities. Now Katie is older, and she uses a power wheelchair, BiPAP (bilevel positive airflow pressure) machine and MIC-Key gastric feeding tube.Read More
Seven Things Every New Mom Needs to Hear
Editor’s note: Read about Colleen Nichols’ experience of having a baby with a little help from technology in Love, Marriage, Science and a Baby Carriage. A college friend recently had her first baby, and after exchanging a few texts, I was reminded that there is a bit of new mom advice that every first-timer needs to hear. The days are long, and when you're unsure of what you're doing and experiencing, it's helpful to know that you're not the only one who thinks motherhood is hard.Read More
Love, Marriage, Science and a Baby Carriage
I’m not going to lie to you: Writing this article is making me sweat. I’m going to talk to you about a topic that changed my life in the most profound, positive way, but I still feel scared to share it. I was diagnosed with myotonic muscular dystrophy (MMD, or DM) when I was 20 years old. I had been dating my now-husband, Cory, for about a year, and I knew that he was the one. While I was head-over-heels and floating on cloud nine, I also struggled with a deep sense of dread and responsibility.Read More
New Guidelines on Genetic Testing in Children
As scientists learn more about what our DNA can tell us about health and disease, public interest has intensified and genetic testing has become increasingly common. In response, the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) have released new guidelines to address updated technologies and new uses of genetic testing and screening in children.Read More
Energy, Dedication, Hope Help Parents of Children with Congenital MMD1
Concern about Cody Beam started right away. "About 12 minutes after he was born, he quit breathing while my husband was holding him," recalls Cody’s mother, Tina Beam, of Arlington, Wash.Cody, born at Providence Regional Medical Center in Everett, Wash., was "very floppy and couldn't swallow," Tina recalls. He was whisked away to the neonatal intensive care unit, where he was placed on a ventilator, and then transferred to Seattle Children's Hospital when he was a week old. He stayed there another three weeks.Read More
Juvenile-Onset MMD1 Can Cause Cognitive, Behavior Challenges
Ron Hayes didn't get a diagnosis of type 1 myotonic dystrophy (MMD1 or DM1) until he was 54, long after he had enjoyed academic and athletic success in high school and college, had earned a master's degree in public health, had married and had children, and had established himself in a career.Read More
Baby Born with Challenges (Liz Trumpy: type 1 myotonic dystrophy)
Liz Trumpy was an active, apparently healthy New York City police captain who worked out with weights, ran a marathon and participated in mini-triathlons. Married to another police officer, she went to the gym regularly throughout her pregnancy, even on the day before she gave birth.“If Kelly had been born without health problems, I would have said I had a picture-perfect pregnancy,” says Trumpy.Read More
The Pain and Promise of Prenatal and Newborn Genetic Diagnosis
Our son is wonderful,” says K.M., a 42-year-old San Francisco area events manager and the mother of a 7-year-old boy with Duchenne muscular dystrophy. “I couldn’t ask for anything more. He’s everything I ever wanted. Of course I wouldn’t want this disease, but he’s just such a great, sweet kid, and it’s been our hope and dream to give him brothers or sisters.Read More
Shy Kids with Disabilities: To Push or Not to Push?
James — a hypothetical boy — is 14 and has Duchenne muscular dystrophy (DMD). James has always been a little reserved around strangers, but over the past several years — especially since he lost the ability to feed himself — he has become increasingly resistant about going out in public, to the point that his mother practically has to beg him to go to a movie.Read More
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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.