Rare Disease Day Invites You to Show Your Stripes®

By: Katherine Kim and Vera Shively

Rare Disease Day is observed worldwide on the last day of February. Its purpose is to raise awareness for rare diseases and energize work towards equity in access to diagnoses and therapies for people living with rare health conditions. The National Organization for Rare Disorders (NORD) is the official U.S. partner for Rare Disease Day. Since the zebra has become a symbol of rare diseases, NORD invites everyone to Show Your Stripes by wearing striped clothing in support of people and families affected by rare diseases. It’s also an invitation to people with rare diseases to tell their stories, experiences and hopes for the future. To Share Your Stripes, see https://www.rarediseaseday.org/share-your-story/.

What is a rare disease?

In the U.S. a rare disease is defined as a health condition affecting 200,000 people or less. Although any one rare disease may not affect many people, taken altogether rare diseases are not rare. Three hundred million people worldwide live with a rare disease. More than 30 million Americans have a rare disease, and about half of them are children. Of the more than 7,000 rare diseases that have been identified, about 72% are genetic. Seventy percent of rare genetic disorders start in childhood. A genetic disorder is caused by a change in a gene or group of genes that are present from birth. Examples include cystic fibrosis and Duchenne muscular dystrophy, among many others.

Misdiagnosis, Treatment Inequity and Isolation

Some of the biggest challenges faced by someone with a rare disease are misdiagnosis, treatment inequity and isolation. The search for the underlying diagnosis can be a long journey and is often referred to as the diagnostic odyssey. It can take many years, and involve multiple medical specialists and tests to reach a diagnosis. In some cases, delays in identifying the cause of a health condition may impact future treatments. In addition, people with a rare disease face inequities in their access to care, opportunity to participate in research studies and treatment options. And some individuals experience isolation in having a rare disease, with geographic isolation from others with the same disease and feelings of isolation within their communities.

Rare Diseases and Genetics at Lurie Children’s

The Division of Genetics, Genomics and Metabolism is a leader in rare disease diagnosis and management. Our team of providers includes doctors, advanced practice providers, nurses, nutritionists, genetic counselors and social workers. We also have a team of clinical research coordinators who enroll eligible patients into clinical trials and guide them through the process. Clinical trials are designed to develop new therapies and improve existing therapies for many rare diseases.

Lurie Children's Hospital is the first in Illinois to receive designation as a NORD Rare Disease Center of Excellence, a network of 40 academic medical centers dedicated to diagnosing, treating, and researching all rare diseases. The network led by NORD is designed to foster knowledge sharing between rare disease experts across the country to help meet the needs of more than 30 million Americans living with a rare disease. In addition, Lurie Children’s is a site in The National Institutes of Health’s (NIH) Undiagnosed Diseases Network (UDN). Nationwide, almost 2400 participants have been evaluated through UDN and 29% of them have received a diagnosis.

NORD’s motto is “Alone we are rare. Together we are strong®”. Rare Disease Day reminds us to join one another in support of the many whose lives are affected by a rare disease.

Additional Resources

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