This can be very difficult for the individual and family, who sometimes want to know if they can be evaluated by a rare disease specialist. Unfortunately, because there usually are so few cases of specific rare diseases, there is often not a doctor who has seen many (or any) similar case(s.) For this reason, it may take a doctor a long time to match symptoms to a possible diagnosis.
Even if you do not have a diagnosis, it is important to keep seeing your doctor for regular follow-up visits. Your doctor can keep track of health changes that might offer clues to a diagnosis. In addition, your doctor may become aware of new information that could be important to diagnosing your condition as time goes by.
Sometimes with rare or hard to diagnose diseases, it is helpful to see a specialist at a major university hospital or academic medical center. Health care professionals in this type of setting often have access to up-to-date testing and technology, a large group of other healthcare providers and specialists to consult with, and/or research opportunities, all of which can be helpful when searching for a hard-to-find diagnosis. You may want to ask your doctor for such a referral.
You can also help your medical team by keeping complete copies of your medical records and making them available to everyone on the team.
Participating in a research study or clinical trial can at times be another option when searching for a diagnosis. Some research studies look at general categories of diseases and will enroll undiagnosed individuals to make a diagnosis. Alternatively, clinical trials or studies may be looking at the effectiveness of medications to treat specific symptoms. The National Library of Medicine at the National Institutes of Health has developed ClinicalTrials.gov, a database accessible to the public through the Web. This database provides patients, family members and members of the public with current information on clinical research studies. For example, the study entitled "Studies of Children with Metabolic and Other Genetic Diseases" evaluates individuals of all ages (despite its title) with known or suspected genetic diseases. You can read about this study by going to Studies of Children with Metabolic and Other Genetic Diseases.
If you find a clinical trial on this Web site that takes place at the National Institutes of Health, or if you want to know if there might be a clinical trial that fits your needs, you can call the NIH Clinical Center and talk to a specialist.
Patient Recruitment and Public Liaison Office
NIH Clinical Center
National Institutes of Health
Bethesda, Maryland 20892-2655
Toll-free:( 800) 411-1222
Fax: (301) 480-9793
If you do receive a specific diagnosis in the future, you can search for additional studies by going to the link and using the name of the diagnosis as your search term. Studies take place at the National Institutes of Health in Bethesda, Maryland, or at research institutions elsewhere. You can use the study's location and contact information to learn more. You can also check this site for regular updates: ClinicalTrials.gov
When you have identified a clinical trial elsewhere in the country through Clinical Trails.gov, scroll down to Location and Contact Information, select the location that you prefer, and contact the number(s) listed. Be sure to refer to the ClinicalTrials.gov identifier.
A consultation at a genetics service with a genetics professional can sometimes provide clues about a difficult to diagnose condition. This type of professional often has experience with rare conditions, and is trained to look for patterns in a family's medical history that offer clues for diagnosis. This type of professional can work as a part of your medical team to help determine a diagnosis and management strategy. If you think that it would be helpful to find a genetics clinic near you, we recommend contacting your primary doctor for a referral.
Last Updated: February 15, 2013