BOSTON — For Alexandra and Richie, sports were a way of life until muscle weakness gradually took away their ability to compete at age 12.
After three years of testing and uncertainty, doctors at Boston Children’s Hospital diagnosed the siblings with Limb-Girdle Muscular Dystrophy 2D, a rare genetic disease that causes progressive muscle weakness. Their parents later learned they both carry the gene responsible for the condition.
Now 24 and 23 years old, Alexandra and Richie remain mobile, though the disease continues to impact their daily lives. Alexandra often relies on a wheelchair in airports and other situations that require long-distance walking because of muscle pain and fatigue.
Limb-Girdle Muscular Dystrophy (LGMD) affects an estimated 17,000 Americans and 580,000 people worldwide. The disease includes more than 30 genetic subtypes and can lead to loss of mobility, respiratory complications, and lifelong disability. Once muscle tissue is lost, it cannot be restored.
Despite advances in research and promising clinical trial results in several LGMD subtypes, there are currently no FDA-approved treatments. Advocates say the challenges stem from the high costs of developing therapies for small patient populations and regulatory pathways that are not designed for ultra-rare diseases.
Determined to push for change, Alexandra and Richie’s family recently traveled to Capitol Hill to meet with lawmakers from Massachusetts and Florida. They are urging Congress and federal regulators to increase funding for rare disease research and create clearer approval pathways for potential treatments.
The family is also helping fund research, clinical trials and gene therapy development efforts, while advocating for insurance coverage and government support to ensure treatments are accessible to all families.
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