What Is Rare Disease Day?

In 2009, Rare Disease Day became an international movement, and today it is held annually on the last day of February in many countries across the globe. But despite this rapid growth, more support is needed. Patients and families often struggle to make sense of rare diseases.

Historically there has been little information available, and the diagnosis was complicated. Thankfully, things are changing. Now with the consumer genetics, ordinary people are finding it much easier to determine if they or their loved ones have a rare disease.

Learn More About Rare Diseases

A rare disease refers to a disorder that affects a small percentage of the population at any given time. For example, in the United States, a rare disease is defined as a disease that affects less than 200,000 individuals, while in the European Union, it affects fewer than 1 in 2,000 individuals.

Rare diseases might also be called orphan diseases according to the Orphan Drug Act of 1983. This act was created to support incentive programs to develop new drugs and treatment options for rare diseases.

Rare diseases can be heritable or nonheritable. The majority are thought to be heritable, which means directly caused by abnormalities in genes or chromosomes.

Rare diseases are usually progressive and very disabling. Making a diagnosis for a rare disease can often be challenging, and healthcare professionals typically request genetic tests in order to confirm the diagnosis.

Early diagnosis results in prompt care treatment that may reduce the likelihood of long-term disability complications.

How Can I Test for Rare Diseases?

If you fear that a loved one may have, or may inherit, a rare disease, DNA testing and analysis may help. For example, a DNA test can indicate that you ‘carry’ a rare disease. This means you aren’t affected by the disease but your children may be.

Using the Rare Disease Screen app on Sequencing.com, you can analyze your DNA for more than 1,200 rare diseases, syndromes, conditions, and traits.

Best of all, to honor Rare Disease Day, we are offering our Rare Disease Screen app for 50% off. Use coupon code DISCOVER at checkout. Expires Sunday, March 3, 2019.