NORD is often contacted by people seeking help for an undiagnosed medical condition. Below are answers to frequently asked questions from patients, families, and caregivers.
Some people with an undiagnosed medical condition may have a rare disease. Others may have an unusual presentation of a common disease. Difficulty accessing appropriate medical specialists and testing can delay an accurate diagnosis. Sometimes, people remain undiagnosed even after extensive evaluation and testing, because their symptoms can’t be explained by known medical conditions.
Ask your doctor for a referral to an appropriate specialist. Academic medical centers, such as the NORD Rare Disease Centers of Excellence, bring together experts from various medical specialties to offer comprehensive evaluations and diagnostic strategies, as well as opportunities to participate in research.
We recommend you choose the NORD Rare Disease Center of Excellence closest to where you live that is within your insurance network. NORD cannot schedule or refer patients, but your health care provider can refer you.
If a diagnosis isn’t made after being seen at an academic medical center, talk to your doctor about a referral to a specialized research program for people with undiagnosed medical conditions. A growing number of specialized clinics or programs focus on undiagnosed diseases, including programs affiliated with the National Institutes of Health Undiagnosed Diseases Network (UDN).
Patients in other countries may contact the Undiagnosed Diseases Network International.
Many rare and undiagnosed conditions are caused by gene changes called variants. Genetic testing can sometimes provide a diagnosis, so it’s important to ask your doctor if genetic testing could provide information about the cause of your medical condition. Information about genetic testing is available in NORD’s Resource Library.
We recommend starting with this video on genetic testing for rare and undiagnosed diseases.
Some genetic tests are covered by private insurance and Medicaid. Your doctor or a genetic counselor can help you find out what genetic tests are covered by your insurance and advocate for coverage if they decide that testing is important for your medical care.
NORD offers financial assistance to help pay for diagnostic testing for qualified individuals referred by the Undiagnosed Diseases Network (UDN). Additionally, the NORD Support Helpline may be able to help you find other resources providing financial assistance for genetic testing.
People with undiagnosed medical conditions may benefit from participating in research studies. NORD strongly recommends discussing options to participate in research with your doctor. Research can help identify new diseases, expand our understanding of known diseases, and potentially improve diagnosis and care.
The NORD Living Rare Study is one option that is open to individuals who are undiagnosed but suspected of having a rare disorder.
Cheyanna’s Champions 4 Children (CC4C) provides children with rare or undiagnosed conditions and their families in the Central Texas area with resources to help meet the child’s medical needs not covered by insurance or other financial assistance.
CURE (a Community for the Complex, Undiagnosed, Rare, and Extraordinary) brings together parents of children with undiagnosed, rare, and complex medical conditions to learn, share and support each other amidst their long journey.
Rare & Undiagnosed Network (RUN) is working to create a bridge between doctors, hospitals, researchers, and families across the globe to help bring whole genome sequencing to patients who need it.
Syndromes Without a Name United Kingdom (SWAN UK) is a non-profit, self-help organization, a registered charity, that promotes awareness of challenges faced by children and families affected by undiagnosed diseases.
The Wilhelm Foundation is an international nonprofit and NORD Member dedicated to advancing medical research and collaborative efforts to uncover the causes of undiagnosed conditions, aiming to provide answers to those in need.
Lastly, if you suspect you may have a specific rare disorder and are seeking a specialist qualified to diagnose it, consider reaching out to nonprofit organizations that serve patients with that disorder. Many maintain networks of qualified specialists that they can refer you to. Search by disorder in NORD’s Organizational Database to find an appropriate organization and their contact information.