Connect with others
It can help to connect with others going through similar experiences.Explore advocacy organizations
Typically, it takes 5 years or more to receive a correct rare disease diagnosis.
We offer help for dealing with an undiagnosed condition. We also share resources that may help you on your rare disease journey.
Connect with a provider who specializes in the type of care you need in our and Centers of Excellence network.Learn More
The National Institutes of Health Undiagnosed Diseases Network is the leading clinical research study for helping undiagnosed individuals. The project has discovered new rare disease.Learn More
What does it mean to be undiagnosed?
Sometimes, getting the right diagnosis takes a long time because you might have common and seemingly unrelated symptoms, an unusual presentation of a known rare condition, or the clinician may not have the knowledge or experience.
What should I do if I can't get a diagnosis?
If your health care provider has been unable to make a definite diagnosis, you may need to be referred to the appropriate medical specialist. Ask your primary care provider for a referral or use our search tool to find a Rare Disease Center of Excellence.
Can genetic testing help?
Medical genetic testing is often an important part of the diagnostic work-up (approximately 80% of rare diseases are genetic). Knowing the underlying genetic cause may make you eligible for certain research opportunities or clinical trials. Learn about the different genetic tests that exist and how to schedule your genetic testing consultation in our Resource Library
How do I pay for genetic testing?
Insurance coverage and access to genetic testing may vary by the type of insurance you have. We offer financial assistance to help pay for diagnostic testing for qualified individuals.
How can research help?
The Undiagnosed Diseases Network, funded by the National Institutes of Health Common Fund, bridges the gap between clinical care and research by
22bringing together experts from around the country to seek diagnoses for the most complex undiagnosed cases. Learn more about the program and how to apply.
ClinicalTrials.gov is an online database of clinical studies around the world that connects patients and physicians to information and clinical trial opportunities. The database is searchable by keywords, symptom, genetic information, and category of illness. Consult with your provider to determine if a clinical trial is right for you.
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.
The National Institutes of Health Genetic and Rare Diseases (GARD) Information Center offers a list of Tips for Undiagnosed Patients that contains helpful information on how to navigate the path to a diagnosis. In addition, their list of Resources for genetic testing information may be helpful to individuals seeking a diagnosis through genetic testing.
RareConnect is a platform for individuals and families from around the world to connect. Through online communities, people can connect and share the struggles and triumphs of their rare disease experience. An Undiagnosed Diseases Community exists to share stories and participate in discussion. Rare & Undiagnosed Network (RUN)advocates for genomic medicine to be incorporated into clinical practice and hosts a blog for undiagnosed individuals and families.
Syndromes Without A Name (SWAN) USA is a 501(c)3 that advocates for awareness and policy change to benefit people with rare diseases –particularly those with undiagnosed conditions –and brings together undiagnosed patients and families to support one another.
The Wilhelm Foundation advocates for undiagnosed individuals and organizes the World Congress for Undiagnosed Diseases to foster collaboration between the world’s leading specialists.