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Comprehensive Genetic Counseling Resource for Dystrophinopathies Published: A Collaborative Effort by PPMD and Expert Genetic Counselors
PPMD is pleased to share that a new genetic counseling practice resource for dystrophinopathies, including Duchenne and Becker muscular dystrophy and carriers, has been published in the Journal of Genetic Counseling. PPMD Certified Genetic Counselors, along with other board-certified genetic counselors from the National Society of Genetic Counselors (NSGC), served as authors of this practice…
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New type of muscular dystrophy discovered after girl’s diagnosis
Researchers have discovered a new, unrecognized type of muscular dystrophy that’s caused by inherited mutations in the SNUPN gene, a study reports. Most people who carry the mutations develop symptoms of muscle weakness before age 2, and the muscles of the upper arms and legs are mainly affected. “This study represents a significant leap forward…
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Heaton Family
Our son Grant is six years old and was diagnosed with Duchenne Muscular Dystrophy at age three. Duchenne is a genetic disease that destroys muscle, all of them. We are dealing with this disease as best we can and doing what we can to keep Grant ambulatory for as long as possible. To this end…
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Aviles Family
Our Duchenne journey began like so many others. Gabe, our fourth son, wasn’t reaching his developmental milestones. His doctor told us there was nothing wrong with him, and that, as the “baby,” he was just spoiled. When we received his diagnosis, we heard that phrase that makes time stand still: “Give him a good life, because…
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Miner Moebel Family
My grandson Shepherd has been living with his Duchenne diagnosis for 5 years. Since that day in 2019, our family has turned into crusaders for the Cause. It has been my privilege and honor to use every trick, tool, and trade God has given me to raise awareness and money for a cure. The post…
