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Why I’ll be attending the “Voice of the Patient Weekend” A Patient’s Perspective

by | Jul 12, 2018 | 1 comment


When you live with an ultra-rare, severe form of hereditary neuropathy like I do, being able to have a voice in the treatment development process is invaluable. The genetic connection to my disorder was only discovered 9 years ago; because it is so rare and newly discovered, it is a struggle to raise awareness and interest in the need for accelerated research into treatments.

The opportunity to meet with the FDA, drug developers, and other stakeholders as the HNF holds its Externally-led Patient-Focused Drug Development Meeting for the FDA on September 28 at the College Park Marriott Hotel & Conference Center in Hyattsville, Maryland is invaluable. Being able to share with them how my disorder, TRPV4 Hereditary Neuropathy (also known as CMT 2C, Scapuloperoneal Spinal Muscular Atrophy, and Congenital Spinal Muscular Atrophy), impacts my life and the lives of the others I have met since my diagnosis will be game changing.

My disorder can cause a myriad of severe symptoms including respiratory insufficiency, which can be life threatening; there is an urgent need for translational research to improve function and save lives. Fortunately, there is great hope that a treatment could be developed, but there remains a critical need to raise the awareness needed to speed up the process to get us there.

I am attending HNF’s “Voice of the Patient” Weekend 2018 to tell the FDA and other stakeholders how TRPV4 HN impacts my life, and to give my perspective on how important it is to accelerate research so that the children who share my diagnosis don’t have to grow up to experience some of the severe symptoms our disorder can cause in adulthood.

As patients, we are experts in how we experience our disorders, and experts in which symptoms should be priorities as treatment targets to improve our quality of life. Our voices are a crucial piece of the treatment development puzzle, and I am incredibly grateful for the opportunity to come together with others who share my diagnosis and raise our collective voice. I encourage others living with hereditary neuropathy to raise your voices at this groundbreaking, important meeting. We are sitting on the precipice of new treatments for many types of hereditary neuropathy. We need our perspectives to be heard, and I hope to see many of you there!

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1 Comment

  1. Richard Cole

    Thank you for sharing your story. I plan on attending the September FDA meeting. Look forward to seeing you there


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