Rare Disease Day is an opportunity to learn about the surprising scope of rare diseases worldwide and the challenges facing the millions of people who live with them. It’s also a chance to educate and support families and care partners of those affected. Rare Disease Day lets us look forward with hope and take action in support of new research, better treatments, and more equity and inclusion.

Rare Diseases Are More Widespread Than You May Think

Approximately 300 million (5% of the world population) are currently living with a rare disease. 

There are more than 6,000 identified rare diseases. Of these:

• 72% are genetic (and 70% of rare genetic diseases begin in childhood)
• 200 are rare cancers
• The remainder are either allergies and/or have environmental causes

Altogether, the number of people living with a rare disease is comparable to the population of the world’s third-largest country. 

Rare Disease Day and the Kidney Disease Community

One rare disease that affects the kidney community is IgA nephropathy (IgAN), which occurs when the protein immunoglobulin A–which normally helps fight infections–settles and builds up in the kidneys. This build-up can cause kidney dysfunction, resulting in blood leakage and the seeping of protein into the urine. 

Also known as Berger’s disease and glomerulonephritis, IgAN can occur at any age. It’s a progressive disease that may not show signs of damage for 10 to 20 years. Between 20% and 40% of adults with IgAN go on to develop end-stage kidney disease (ESKD)

Treatment of IgAN focuses on slowing the disease’s progression and preventing complications. There is no known cure, and in most cases, the cause is unknown, though celiac disease, HIV, and cirrhosis of the liver have all been linked to the condition. While not all cases of IgAN are genetic, there is a type of IgAN that appears to run in families on chromosome 6.

Raising Awareness

Few people, including policymakers, are aware of the sheer number of rare diseases and the suffering they can cause for those affected. If you are living with a rare disease, caring for someone living with one, or have otherwise had your life touched by someone with a rare disease, you can help build awareness, connect with others, and break down barriers by sharing your story and amplifying the collective voice of those seeking equitable access to diagnoses, treatments, care, and opportunities to thrive.

Here are some specific ways to get involved:

• Download tools to help raise awareness and spur change, such as social media posts, posters, info packs, tool kits, fact sheets, and infographics
• Sign up your organization and become a friend of Rare Disease Day
• Share your own story with others and promote solidarity
• Post your event if you’re an organization

*Rare Disease Day. (2022, Feb.). 28 February is Rare Disease Day. https://www.rarediseaseday.org/