February 28, 2017

It’s Rare Disease Day – But What Is It That Makes a Disease Rare?

Rare Disease Day takes place on the last day of February each year to raise public awareness about rare diseases and their impact on patients’ lives.

Rare diseases are those conditions that affect fewer than 1 in 200,000 people in the United States. In the U.S., there are more than 7,000 recognized rare diseases, over half of which affect children.

While these conditions are rare, collectively they affect more than 30 million Americans. Eighty percent of rare diseases are thought to be genetic disorders.

These conditions are often poorly understood. Patients are often misdiagnosed or underdiagnosed and may undergo evaluations for years in an effort to obtain the correct diagnosis.

Because their numbers are so small, researchers rarely focus on these conditions as it is hard to recruit patients for clinical trials. Only 5 percent of these conditions have an FDA-approved treatment.


Mission Fullerton Genetics Center provides help for those affected by rare diseases.

The center employs two medical geneticists, five genetic counselors, a licensed clinical social worker and a state-of-the-art genetic laboratory to help serve those in our region with rare diseases. The center is the only one of its kind in the region and has participated in clinical research trials in the development of an approved treatment for several rare disorders.

For more information about Mission Fullerton Genetics Center and the services they provide, visit mission-health.org/genetics.php.