Tips for the Undiagnosed

As of September of 2015, the National Institutes of Health (NIH) has opened a patient portal for those with undiagnosed disease. This new initiative seeks to help those whose conditions have been missed, even by highly skilled physicians and specialists, or who have gone undiagnosed despite thorough clinical investigations.

To read more about this new NIH initiative and how you can apply, this article provides some valuable information and links to the NIH Undiagnosed Diseases Network (UDN).

While HE/SREAT is not considered a genetic disease, the NIH and GARD provide tips and videos on navigating rare conditions. The following video addresses those who have not been able to get a diagnosis. You can find more information on the resources mentioned in the video by visiting the NIH website at

Genetic counselors from the Genetic and Rare Diseases Information Center provide tips for patients without a diagnosis.



HESA is unable to provide visitors medical advise or suggestions on treatments. We are unable to review your personal medical records, or give medical advices. We are supported by volunteers who are not physicians. However, we do offer a variety of resources and information to help individuals, their families, friends, and caregivers make more informed choices about HE/SREAT.

For those who suspect they may have HE/SREAT, please consult a qualified neurologist as part of your diagnostic and care team. For some resources on how to find a qualified neurologist, please visit our page “How to find a specialist“.