week 36: this week i'm gonna... help end Duchenne muscular dystrophy
In 2010, when he was 3 years old, Jonathan Rice was having trouble walking. His parents assumed he was injured from recently jumping on a trampoline, and they took him to the doctor for evaluation. What followed was a devastating diagnosis of Duchenne muscular dystrophy.
With no family history of the disease, the Rice family was shocked. And after learning more about the progression of Duchenne, they were determined to fight as hard as they could to help their son.
Jonathan, who is now 8 years old, loves sports, super heroes, and telling jokes. He loves to play, swim, go tubing, and hang with his family and friends. But this belies the severity of his condition; as his muscles cells continue to die, he will lose the ability to walk around the age of 12 and will experience a steady decrease in upper body strength. His heart and lungs will eventually be affected since they, too, are muscles. And as his body declines, the cruelest part of this disease will set in -- Jonathan's brain will remain unaffected. Jonathan will probably live into his 20s or maybe his 30s, and his family and Parent Project Muscular Dystrophy are doing everything they can to extend that timeline.
Jonathan's older siblings - Lauren, Mary Katherine and Clayton - created the following video on his behalf.
Parent Project Muscular Dystrophy (PPMD) is the largest, most comprehensive nonprofit organization in the United States focused on finding a cure for Duchenne muscular dystrophy, the most common fatal genetic disorder diagnosed in childhood and primarily affecting boys. PPMD was formed in 1994 by parents of children with Duchenne who were frustrated with the lack of awareness, funding, and treatment for the disease plaguing their sons.
PPMD is the leader in supporting Duchenne research, having funded over $45 million directly for research and facilitated additional funding from various government and private grants. PPMD has helped fund every major Duchenne treatment being researched today, and is helping young men with Duchenne live longer, stronger lives.
The organization operates with 5 objectives:
- Research - identify and aggressively fund the most promising near and long-term research and therapies; stimulate new research
- Advocacy - influence policies to lead to improvements in the lives of families affected by Duchenne; work with the National Institutes of Health and other agencies to ensure Duchenne research and clinical trials remain a high priority
- Care - identify gaps in care and work toward solutions; work with clinicians to ensure all Duchenne patients have access to optimal care
- Community - provide a supportive environment in which people affected by Duchenne can share needs, concerns, and common experiences
- Education - increase recognition of muscle weakness among healthcare professionals and promote early diagnosis; share up-to-date information about treatment with all members of the Duchenne community; raise awareness and provide educational materials
Please see the video below for more information on Parent Project Muscular Dystrophy.
Some facts about Duchenne muscular dystrophy:
- Duchenne is the most common fatal genetic disorder among children
- Duchenne affects approximately 1 in 3,500 boys from all races and nationalities; it rarely affects girls
- 30% of Duchenne diagnoses are spontaneous gene mutations (non-hereditary), which puts every boy at risk
- Complications include loss of mobility (wheelchair-bound in early teens), loss of upper body strength (late teens), and, over time, loss of function of the heart and lungs (teens, twenties, and, increasingly, thirties)
Until the mid-1990s, there was very little understanding of Duchenne and potential treatments. However, the quality of life and life expectancy have begun to improve significantly over the last fifteen years as a result of Duchenne-related medical advances. The outlook has improved so much in such a short period of time that the Rice family is hopeful that the advances PPMD can help facilitate over the next fifteen years and beyond will help Jonathan to live a long, happy life.
Notes for this week:
- World Duchenne Awareness Day is September 7th
- Our collective givetwig donation will sponsor critical research to help end Duchenne.
- For further information regarding Parent Project Muscular Dystrophy, please check out their website.
this week i'm gonna donate to Parent Project Muscular Dystrophy.