How to Find Doctors for Rare Genetic Diseases

If you experience a sudden change in health that does not fit a well-known diagnosis, it can be daunting to find appropriate medical care. Unusual symptoms and persistent illnesses sometimes confuse doctors who are unfamiliar with rare diseases or disorders, including genetically based ones. Depending on the disease, there may only be a few specialists in the world equipped to diagnose and treat it.

Instructions

• 1

  Consult your primary care physician. Prepare for your visit by making a list of all of your symptoms, including duration and severity. Note any major changes in environment or medication that could account for the symptoms. Ask your doctor for a referral to a medical specialist and geneticist who may better understand your illness.

• 2

  Visit the medical specialist and describe your symptoms. He may provide a tentative diagnosis and treatment plan. Work in tandem with a licensed geneticist who can conduct specific genetic tests to confirm the medical diagnosis. Give the medication or treatment program several weeks to take effect before determining whether it works. If your illness does not respond to treatment, you may need to seek an outside opinion.

• 3

  Enter your symptoms online into a health care website to see what genetic disease you may have, or to verify the one you suspect you have. While these sites are not always accurate, they provide a good starting point for your personal research.

• 4

  Search on the website PubMed, which contains a database of articles from federally funded research programs, for studies pertaining to your disease. Rare disease specialists often report case studies or results of clinical trials in professional journals. Use the primary author's contact information to inquire about diagnosis and treatment options.

• 5

  Contact the National Institutes of Health Office of Rare Diseases Research, which connects patients with rare disease specialists. Staff at the office can review your medical records and refer you to a specialist who may diagnose your illness.