My name is Stephanie and I waited 36 years to identify my true rare neuromuscular disorder. I was born with foot deformities, was never able to stand or walk without full leg braces, have had vocal cord weakness, severe scoliosis and hand weakness since childhood, and developed breathing weakness and hearing loss in adulthood. In 2015 I was finally correctly diagnosed with TRPV4 related Hereditary Neuropathy and connected with the team studying my disorder at Johns Hopkins.
TRPV4 Hereditary Neuropathy is a rare and severe neuromuscular disorder that causes limb weakness, vocal cord paralysis, breathing muscle weakness, and hearing loss among other symptoms. Symptoms can appear from birth through adulthood and can be life-threatening.
Charcot Marie Tooth type 2C (CMT2C), Scapuloperoneal Spinal Muscular Atrophy (SPSMA) and Congenital Distal Spinal Muscular Atrophy (CDSMA) are known collectively as TRPV4 related Hereditary Neuropathy.
It’s an exciting time for the TRPV4 HN community! There is a very promising TRPV4 inhibitor treatment on the horizon and the current challenge is to get it to clinical trials. There is much hope that this treatment could possibly improve or stop the progression of symptoms. Johns Hopkins is launching a TRPV4 Hereditary Neuropathy Natural History Study that will provide the baseline data that is critical in preparation for future clinical trials
This fundraiser will directly support the incredible researchers in Dr. Charlotte Sumner’s clinic and lab working towards a treatment for TRPV4 HN.