Rare Disease Day 2022

February 28th marks the 12th annual Rare Disease Day (RDD).

Observed on the rarest day of the year, the global event campaigns for equity for the over 7,000 rare diseases currently identified. Among those rare diseases is cystinosis. Cystinosis is a genetic, lysosomal storage disorder where unusual cystine accumulation occurs in every cell in the body. The cystine buildup causes tissue and organ failure, leading to kidney failure, muscle wasting, swallowing difficulty, diabetes, photophobia, and more. Our cystinosis community is known to have a population of 2,000 worldwide with 600 residing in the U.S.

If you are ready to take action, here are a few ways we can work together make a better world for those living with a rare disease. Thank you for visiting!

– Virtual events:

• Rare Disease Day: A Global Priority for Equity (Eurordis) and Demystifying the methodology to determine market value when remunerating the patient community for interactions with the pharmaceutical industry.
• Rare Disease Week on Capitol Hill via the EveryLife Foundation.
• Rare Disease Day with the NIH (National Institutes of Health).
• Rare Disease Day with NORD.
• Quinnipiac RDD Symposium featuring CRN President Jonathan Dicks. Register here for the in-person or virtual option to where patients, family members, and researchers will discuss their stories and promote education, awareness, and advocacy. It is also an accredited continuing medical education (CME) activity for physicians.
• Rare Disease Day Patient Panel with Wego Health. Join rare disease patient leaders to discuss resiliency, self care, story sharing, and raising awareness to support the rare community.
• Rare Disease Day Webinar on Feb 24 with the Canadian Organization for Rare Disorders. Bringing Canada’s Rare Disease Drug Strategy from Vision to Reality.
• The Rare Disease Diversity Coalition and Black Women’s Health initiative is Feb 28 at 12pm ET. Discuss issues facing Black, Indigenous and People-of-Color (BIPOC) living with a rare disease https://bit.ly/3HDWVyF. 

– The AllStripes cystinosis research program is here and we are proud to be a partner. We are looking for families impacted by cystinosis who want to advance cystinosis research from home. You can learn more here: allstripes.com/cystinosis.

– Share information about rare disease within your networks and social media. For example: Join the Global Genes challenge by posting a photo/video wearing denim with #ShowYourGenes.

– Light Up for Rare through rarediseaseday.org.

– School Toolkit. The kit may help you have discussions with teachers or young children about rare disease.

– Equity Toolkit. Rarediseaseday.org has featured tools to assist people living with a rare disease improve social opportunity, non-discrimination in education and work, and equitable access to health, social care, diagnosis and treatment.

– Donate. You can contribute towards the research, education and support efforts of the CRN by clicking here.

– View the video message from the Adult Leadership Advisory Board; start watching here.