About Rare Condition

What is an Undiagnosed Condition?

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.

How should parents deal with not having a diagnosis for their child?

Not having a clear diagnosis – or having a child with a rare condition – sets you apart from a lot of the other parents of children with disabilities or special health-care needs. You spend some days hopeful: maybe a test result will come back with “the answer.” You might spend other days feeling like you have to start all over again. And you are left dreaming of the day you will get a diagnosis.
A diagnosis is not simple if your child has a rare condition, symptoms that match multiple conditions, or symptoms that don’t really fit into a single category. This is a journey with multiple stops. You might wait a long time for one diagnosis or even get many along the way.
The need for a name to put around your child’s symptoms is important. It helps you access services. It helps you connect with other parents who are in similar situations. It helps you learn what you can do to support your child for the best possible life. The good news is that you are not alone: parents struggling with similar issues have formed support networks. New conditions are identified every day; one of those might help doctors reach a diagnosis for your child.
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.

Should my child participate in research?

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.

Would a genetics service or a genetic counselor be helpful?

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.

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may, 2019

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