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 helpline 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.
Ask a question via their online submission form, but don’t expect a diagnosis or medical advice.
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 helpline 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. Helplines 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 helplines and information services. Click on the image to view the complete list.