I am attending HNF’s “Voice of the Patient” Weekend 2018 to tell the FDA and other stakeholders how TRPV4 HN impacts my life.
HNF had the opportunity to connect with Kathleen Bogart, PhD, the Principal Investigator of the Adults with Rare Disorders Support Study in partnership with the National Organization for Rare Disorders
Growing up we called it “Steffi disorder.” My friends and family were as baffled as my expert neurologists. I had been diagnosed with typical Spiral Muscular Atrophy (SMA) as a toddler but never followed its progression; I never seemed to get weaker. My myriad of symptoms was distinctly different than anyone else’s I had ever met in a lifetime living in the neuromuscular community. I thought I might never find my true diagnosis, let alone others who share it with me.