Rare Disease 101 from NORD in honor of Rare Disease Day 2018


Rare Disease 101

Rare Disease Day is an international awareness campaign that takes place on the last day of February each year. It is the one day the world comes together to recognize people with rare diseases with the goal of raising awareness among the general public and decision-makers about rare diseases. The global theme for Rare Disease Day 2018 is patients and research. For patients, their families and caregivers, getting up to speed on a rare disease can feel very much like investigating uncharted territory. In recognition of #RareDiseaseDay, the National Organization for Rare Disorders (NORD) has put together the following primer on rare diseases and helpful links. For further information, visit www.rarediseases.org.

What makes a disease “rare”?

According to the National Institutes of Health (NIH), a disease is considered rare if it has a prevalence of fewer than 200,000 affected individuals in the United States. There are roughly 7,000 rare diseases currently identified. The definition of a rare disease will vary from country to country.

Where can I find more information on my disease?

You can look for a report on your disease on NORD’s Rare Disease Database (RDB). NORD’s RDB contains 1,200+ comprehensive disease reports that include information like symptoms, treatments, clinical trials, supporting organizations, and more. If your disease does not yet have a corresponding report, the National Institutes of Health’s Genetic and Rare Disease Center (GARD) has a list of rare diseases along with disease specific information on its website.

How can I find a doctor knowledgeable about my disease?

Disease-specific patient organizations often provide lists of expert physicians. You can also search NORD’s Organizational Database to find out if your disease has an organization. Additionally, the GARD Center at the NIH offers an information page on how to find a physician. Patients and families may also contact GARD directly via phone, mail/fax, or email form: https://rarediseases.info.nih.gov/about-gard/contact-gard

How long does it take to diagnose a rare disease?

Rare diseases, because they are not necessarily common knowledge, often take a long time to diagnose. Sometimes, conditions can be diagnosed at birth or quickly discovered after their onset. In most cases, however, rare diseases can take anywhere from months to years to be diagnosed. This can be a frustrating process; however, the Undiagnosed Diseases Network recommends regularly seeing your doctor/specialist, because any new symptoms you have could be helpful in coming to a diagnosis.

How can I connect with other patients?

NORD can connect you to an organization that is right for you even if you don’t yet have a diagnosis through its network of nearly 300 member organizations and its database of more than 1,200 rare disease patient groups. NORD also hosts a rare disease summit, where you can connect with other rare patients and families. You may also connect with other patients on NORD’s Facebook or Twitter accounts or by participating in local and national awareness and advocacy activities, such as Rare Disease Day events – see www.rarediseaseday.us for more information on those. 

The National Organization for Rare Disorders (NORD) ® is the leading independent advocacy organization representing all patients and families affected by rare diseases.  NORD is committed to the identification, treatment and cure of the 7,000 rare diseases that affect 30 million Americans, or 1 in every 10 people. NORD began as a small group of patient advocates that formed a coalition to unify and mobilize support to pass the Orphan Drug Act of 1983. For more than 30 years, NORD has led the way in voicing the needs of the rare disease community, driving supportive policies and education, advancing medical research, and providing patient and family services for those who need them most.  NORD represents more than 250 disease-specific member organizations and their communities and collaborates with many other organizations in specific causes of importance to the rare disease patient community. Visit www.rarediseases.org.

Contact: Laura Mullen,  lmullen@rarediseases.org