There are an estimated 10,000 rare diseases. A majority of rare diseases are genetically oriented. Because of this, we learn more about health and disease as we learn more about genetics. Over the past few years, more research and exploration has been done on RYR-1 related diseases caused by RYR-1 mutations. But more work still needs to be done in research and in awareness.
That’s why Adam and Courtney Woomer recently took to the streets in the Bluegrass 10,000, a 10k foot race in downtown Lexington. According to WKYT, their goal was to raise both funds and awareness for RYR-1 related diseases. Their daughter Maisie (1) was diagnosed with congenital myopathy due to RYR-1 mutations when she was just a few months old. She requires ventilatory assistance for 12 hours each day, is unable to sit independently, and becomes fatigued easily.
Prior to Maisie’s birth, Courtney had—for all intents and purposes—a relatively normal and healthy pregnancy. In telling their story, Courtney says, she hopes people realize that sometimes we cannot control these situations. Genetics are genetics. But awareness and advocacy can help the families affected. Through MILES4MAISIE, which pledged funds for each runner the Woomers passed during the run, Courtney and Adam raised $40,710 for the RYR-1 Foundation.
A Brief Note on RYR-1 Related Diseases
The RYR-1 Foundation describes RYR-1 related diseases as:
inherited forms of muscle disease resulting in a wide range of symptoms, including muscle weakness, a potentially fatal reaction to general anesthesia (malignant hyperthermia), and rhabdomyolysis. The RyR1 receptor is a channel in muscle cells that regulate the flow of calcium, a critical component of muscle contraction, [so] a reduced number and/or abnormal RyR1 channels lead to dysfunctional muscle contractions.
RYR-1 related diseases may occur from spontaneous gene mutations, or gene mutations inherited from one or both parents. Typically, conditions are either non-progressive or progress very slowly.
