Rare Disease Organizations

According to Global Genes, there are approximately 7,000 rare diseases of which HE/SREAT is only one. Furthermore, they state that 80% of these diseases are genetic. Each day, new rare and genetic diseases are being discovered. Because we are one small part of a much larger rare disease community, we collect information and take part in rare disease and patient discussions via social media to learn from one another and to help one another. 

On this page we are sharing a few links that may help patients, families, caregivers, or anyone seeking more information on rare disease research, initivies, and organizations that may also be able to help them. 

In the United States:

National Organization for Rare Diseases (United States)
For over 30 years, NORD has lead the way in empowering the rare disease community.


Check Orphan – rare, orphan, and neglected diseases

Rare Connect
Connection rare disease patients globally


Global Genes is a leading rare disease advocacy organization with global reach to the worldwide rare community of patients, caregivers, advocates and clinical partners.

Join a network of recruiters to connect patients with new treatments.


Care to the People
connecting patients and resources to each other


Madison’s Foundation
Moms and Dads in search of needed support


NIH Health Hotline
Toll-free numbers from the National Library of Medicine’s Health Hotlines database


Undiagnosed Disease Network
The Undiagnosed Diseases Network (UDN) is a research study that is funded by the National Institutes of Health Common Fund



CIHR Team for Rare Diseases (Canada)
A Canadian research team focusing on rare disease policy.

In the United Kingdom:

Rare Disease UK (RDUK) is the national alliance for people with rare diseases and all who support them. We believe that everyone living with a rare disease should be able to receive high quality services, treatment and support.

The Children’s Trust
For children with brain injury (United Kingdom)

Just 4 Children
Just4Children is passionate about the relief of sickness and preservation of health of children in the UK