From Diagnosis to Board of Directors: Honoring My Daughter’s Rare Disease on Cystinosis Awareness Day

May 1, 2023

As the days continue to warm up and the sunshine finds us again in northeast Ohio we find ourselves quickly approaching Cystinosis Awareness Day which just so happens to coincide with D-day (Diagnosis Day) for our family.  Three years ago with Grace asleep on my lap I could not imagine ever finding a sense of normalcy again, but as time passed we found our footing again.  We were blessed to have a physician familiar with nephropathic cystinosis who was able to facilitate us connecting quickly and seamlessly with the Cystinosis Research Network. CRN quickly helped to hook us up with resources and in speaking with Jen who heads the family support team I finally felt like someone truly understood everything that we were going through, and slowly but surely she guided us in picking up the pieces of our life. It was in those early moments when I realized that I wanted to be that support person for the future families who would find themselves in our shoes.

The Cystinosis Research Network is an all-volunteer, non-profit organization dedicated to supporting and advocating research, providing family assistance and educating the public and medical communities about cystinosis. The goal of advocacy groups is to provide the emotional and practical support needed to help members live with and manage their rare conditions. Patient advocacy groups are there to provide the understanding, support and medical information needed to make informed decisions about one’s health and treatment options. Without rare disease patient groups, rare patients and their families would be left overwhelmed, isolated and misunderstood.

Our flagship program, the Cystinosis Warrior Impact program is initiative created with the goal to support, help or find a way to positively impact every single one of our 2,000 cystinosis warriors. Support can cover many categories including but not limited to mental health/wellness, scholarships, special care packages, medical support programming, education, research opportunities, networking, translation services, and advocacy/policy work. Our goal always is to support patients and their families throughout their cystinosis journey.

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