Sept. 7 is Duchenne Muscular Dystrophy Day. Why should we care? Well, because it’s the most common fatal genetic disorder, which affects 1 in 3,500 boys. And, although it is passed from parent to child on the X-chromosome, roughly 35% of cases are caused by a random spontaneous mutation, which means it can happen to anyone. The real tragedy is the progressive loss of mobility and independence, and the premature death of these young men with Duchenne in their twenties or early thirties.
The GoldLab Symposium has been blessed to have both Pat Furlong—the powerhouse Duchenne activist who founded Parent Project Muscular Dystrophy—and Yvonne Kobayashi—who researched Duchenne and Becker muscular dystrophy—present at our symposia.
When you watch Pat Furlong’s presentation from the 2010 GoldLab Symposium, you’ll need to have a tissue close by. Pat describes her journey from an angry and frustrated parent—two of her four children have died of this disorder—to a dedicated and empowered advocate, and talks about the effects of Duchenne from the perspective of parents and boys. She struggled to get the pharmaceutical industry and government policies to pay attention to Duchenne and then focus on the important issues of the disease—specifically the mobility and quality of life for her boys. I believe much of the advances in the understanding and treatments of Duchenne can be linked to Pat’s activism.
Yvonne Kobayashi’s presentation from the 2015 GoldLab Symposium details some of the fascinating research being done in the Duchenne community and how her research has helped to advance the understanding of the effects of dystrophin on muscle degeneration in Duchenne.
Although Duchenne is a rare disease, there are roughly 20,000 new cases diagnosed each year. What inspires and amazes me about this community is the incredible fight and tenacity of parents like Pat and researchers like Yvonne. The engagement and size of the community has led to tremendous research being done to extend and improve quality of life for these boys.
On this important day, join me in recognizing these two outstanding leaders in the Duchenne community, and visit the Parent Project Muscular Dystrophy website for more information, to become involved, and make a donation.
Lastly, I will leave you with a few interesting articles and publications from the Duchenne community that you may find valuable:
Collaborative Study Reveals New Biomarkers for Potential Diagnosis and Treatment of Duchenne Muscular Dystrophy
Susana Martinez-Conde // 02.09.2016
Ted Kaptchuk // 02.08.2016
Caldwell Esselstyn // 02.04.2016