Connect with others
It can help to connect with others going through similar experiences.
Explore advocacy organizations
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 Centers of Excellence network.
Learn MoreThe 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 MoreSometimes, 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.
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.
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
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.
The Undiagnosed Diseases Network, funded by the National Institutes of Health Common Fund, bridges the gap between clinical care and research by bringing 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.
RareConnect’s mission is to set the standard of care for all families on a medical odyssey by making whole genome sequencing available to them through their insurance company as well as to help families emotionally and financially living with an undiagnosed child or a child with a rare condition.
The Wilhelm Foundation advocates for undiagnosed individuals and organizes the World Congress for Undiagnosed Diseases to foster collaboration between the world’s leading specialists.
