How Do I Find a Specialist for My Rare Disease?
When you are diagnosed with a rare disease, you will likely have many questions and concerns. Finding a specialist who can guide you on your journey is key. The specialist should be someone who is up-to-date on the latest research and treatment. They also need to be patient and compassionate as you adjust to the lifestyle changes your illness requires.1
You can begin your search by asking your internist for a referral. Friends, family, and coworkers may have connections. If you have seen a geneticist for an evaluation, they may be able to advise you, as well.1
Government resources for finding a specialist
Another resource is the Genetic and Rare Diseases Information Center (GARD). GARD is part of the National Institutes of Health (NIH) and offers support for people living with rare disorders and their caregivers. You can contact GARD at 1-888-205-2311 for help finding a specialist. And you can search the center's website for information about your disease. There are also links to patient organizations that focus on a certain illness.2
PubMed is a free resource from the National Library of Medicine, which is part of the NIH. Their database doesn't provide full articles, but it does have more than 36 million citations or abstracts, which are short summaries of the articles. You can sort by date to find the most recent abstracts. If you click on the "affiliations+ expand" tab beneath the author's names, you'll find the names of the hospitals, universities, or medical practices where they do their research. From there, you can reach out to those who are experts in your disease.3
I currently see ____ specialists for my rare disease
Clinical trials and searchable databases
Research Match is a nonprofit organization that helps connect people with rare diseases with researchers who study their illness. Trials Today is its user-friendly listing of clinical trials taken from the NIH database. Click on the name of the trial, and you will see a tab that gives the location of the trial. The tab labeled "more details" has contact information for the researchers studying your condition.4,5
Another resource is the National Organization for Rare Disorders (NORD). NORD has a toll-free number (1-888-999-6373) that connects you with advocates, members, volunteers, and medical specialists. NORD has a large database to help you find patient advocacy organizations devoted to your rare disease. These organizations are a great source of support and have resources to help you find a specialist who fits your needs.6
My experience with doctors who treat my rare disease has mostly been...
Centers of excellence
NORD also has a listing of their Rare Disease Centers of Excellence (NORD RD CoE). These centers have doctors in every major specialty. The doctors have diagnosed and treated thousands of people with rare diseases. There are now 40 centers of excellence across the United States. A large network of centers allows doctors and researchers to work together to improve care and advance research. And these experts hope to shorten the time it takes to get diagnosed, leading to better outcomes.7
If you want to be seen at a NORD RD CoE, you should speak with your current doctor. Your doctor can reach out to the closest NORD RD CoE to refer you to the center. Each center has its own insurance requirements, so be sure to ask if they take your insurance. If they don't, you can ask about setting up a manageable payment plan.7
Once you have an appointment with the specialist you choose, make sure they get your medical records ahead of time. If you can, have someone come with you to take notes and offer support. Pay attention to how the doctor interacts with you. They should see you as an equal partner in your treatment. You know your body best, which makes you your own best advocate.8
Have you taken our Rare Disease In America Survey yet?