Physicians will sometimes say that a child has an "undiagnosed rare condition" or an "undiagnosed genetic condition" when they are unable to find a diagnosis for certain characteristics or symptoms. In fact, finding an underlying diagnosis for many conditions can be a very long and frustrating experience. A diagnosis can take as many as five years, and occasionally may never happen, especially with rare conditions. In addition, some experts say that between 30 to 40 percent of children with special needs do not have an exact diagnosis.
This can be very difficult for parents, who sometimes want to know if their child should 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 cases. For this reason, it may take a doctor a long time to match symptoms to a possible diagnosis.
Even if your child does not have a diagnosis, it is important to keep taking him or her to your pediatrician or family doctor for follow-up visits. Your child's regular doctor can keep track of health changes that might offer clues for a diagnosis. In addition, your doctor may become aware of new information that could be important in diagnosing your child as time goes on.
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 health care 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.
Parents can also help their child's health care providers by keeping complete copies of their child's medical records and making these available to everyone on the child's health care 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 individuals without a diagnosis with the goal of making 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 with known or suspected genetic diseases, including metabolic diseases. You can read about this study by going to Studies of Children with Metabolic and Other Genetic Diseases [clinicaltrials.gov]
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 child's needs, 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
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 a diagnosis. A genetics professional can work as a part of your child's 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 child's primary doctor for a referral.
Last Updated: December 26, 2013