All About Rare Diseases and Genetic Disorders in Children

Medically reviewed by Katherine Kim, MS, CGC, and Vera Shively, MS

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 US 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://rarediseases.org/rare-disease-day/rare-disease-day-share-your-story/   

What is a rare disease? 

In the US 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. One in 10 Americans has a rare disease, and about half of them are children. Of the more than 6,800 rare diseases that have been identified, 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 which 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, involve multiple medical specialists and tests to reach a diagnosis. In some cases, delays in identifying the cause of your health condition may impact future treatments. In addition, people with a rare disease face inequities in their access to care, the 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 

As mentioned earlier, 72% of rare diseases that have been identified are genetic. The Division of Genetics, Genomics and Metabolism at Lurie Children’s cared for about 3,700 outpatients and 1,100 inpatients last year. 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.   

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.  

Learn more about the importance and impact of genetic testing:

Additional Resources 

• National Organization for Rare Disorders (NORD)   
• Rare Disease Day NORD 
• Rare Diseases FAQ - NIH National Human Genome Research Institute 
• Rare Disease Day 2023  

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