Finding information on rare diseases

Rare disease patients can often find quality information on their rare disease from patient support associations, online social networks, and their doctor. But sometimes a disease does not show up in searches, no support association exists, and even doctors don’t have literature to share on the disease.

So what is left to do? Try contacting a rare disease help line in your country or language. Information specialists at the Genetic and Rare Diseases Information Center can do a free literature review to answer specific questions on a disease or dig up information a simple Google search may not have unearthed.

National Center for Advancing Translational Sciences

Ask a question via their online submission form, but don’t expect a diagnosis or medical advice.

View an example of how the information specialists answered questions on Hereditary Spastic Paraplegia.

Those outside of the United States are free to contact the Genetic and Rare Diseases Information Center, but they may prefer to ask a question of a rare disease help line in their country.  Patients or caregivers are often in desperate need of psychological support and it is essential that this is available once a diagnosis has been made. The patient may also have social questions that can only be addressed by someone who is familiar with the social system of their country. Help lines are a service that can not only offer solutions to these needs, but also identify unmet needs in the daily lives of rare disease patients and provide a basis for advocacy work to eliminate them.

Here is a short selection of the list from Orphanet, visit the link for a complete, updated list of rare disease help lines and information services. Click on the image to view the complete list.

orphanet help lines

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