TIPS FOR THE UNDIAGNOSED from the NIH’s Genetics and Rare Diseases Information Center

To get started watch the video, TIPS FOR THE UNDIAGNOSED (Published on May 7, 2015. Genetic counselors from the Genetic and Rare Diseases Information Center provide tips for patients without a diagnosis):

All that follows is from the TIPS FOR THE UNDIAGNOSED web page:

Trying to find an underlying diagnosis for many conditions can be a very long and frustrating experience. With more rare conditions, a diagnosis can often take many years. Although this can be incredibly difficult, the following information may help navigate through the process of trying to obtain a diagnosis.

Where can I find out more about how to cope with an undiagnosed condition?

Are there research programs available for people without a diagnosis?

How can I learn more about clinical trials?

Are there any advocacy groups for people with an undiagnosed condition?

Who should I talk to if I have financial concerns?

Are there organizations that can help with the cost of travel?

Where can I find out more about financial assistance?

To learn more about how to deal with genetic or rare conditions that have no definitive diagnosis, see:

The Global Genes Project has developed a resource for people with undiagnosed conditions called “Becoming An Empowered Patient: A Toolkit For The Undiagnosed.”

Are there research programs available for people without a diagnosis? Back to Top
Yes. If an individual’s health care providers and specialists have not been able to make a definite diagnosis so far, participating in a research study or clinical trial may be another option. See below for a description of some of the National Institutes of Health (NIH) research programs that are going on now:

The Undiagnosed Diseases Network (UDN) is a research study funded by the National Institutes of Health Common Fund. The UDN is made up of clinical and research centers across the United States working to improve diagnosis and care of patients with undiagnosed diseases. Physicians and patients with additional questions may call 1-844-746-4836 (1-844-Ring-UDN). is database that provides current information on clinical research studies. You can search for research studies looking at general categories of diseases (e.g. neurological disease or eye disease) or specific symptoms. Some studies accept individuals without a diagnosis with the research goal of making a diagnosis.

One study that is enrolling individuals who do not have a diagnosis is entitled “Studies of Children with Metabolic and Other Genetic Diseases“. This study is evaluating individuals with known or suspected genetic diseases, including metabolic diseases. Despite the name, people of all ages may be eligible for this study.

To find out more about clinical trials that take place at the NIH, you can call the NIH Clinical Center to talk to a specialist.

Patient Recruitment and Public Liaison Office
NIH Clinical Center
National Institutes of Health
Bethesda, Maryland 20892-2655
Toll-free: (800) 411-1222
Fax: (301) 480-9793

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