See Also: Talking Glossary
of Genetic Terms

Definitions for the genetic terms used on this page

Learning About An Undiagnosed Condition in a Child

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.

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How should parents deal with not having a diagnosis for their 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.

 

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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.

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
E-mail: prpl@mail.cc.nih.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.

 

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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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Additional Resources for Families of Children with Undiagnosed Conditions

  • Syndromes Without A Name (SWAN) [undiagnosed-usa.org]
    Syndromes Without A Name USA (SWAN USA) is a non-profit tax exempt organization that offers support, information and advice to families of children living with a syndrome without a name.
     
  • MUMS National Parent-to-Parent Network [netnet.net/mums]
    Puts parents of children with various conditions in touch with other parents of children with the same condition to exchange information about how to deal with symptoms, treatments, etc. on an every-day basis. You can contact MUMS to be matched with a family whose child's symptoms are similar to your son's or daughter's.
     
  • Harvard Medical School's Family Health Guide
    Read about different types of specialists and what they do.
     
  • National Library of Medicine/Medline Plus [nlm.nih.gov/medlineplus]
    Information about the specific symptoms your child is experiencing. Provides general information about health problems and some of the conditions that they can be associated with. The MEDLINEplus Web site was designed to help people research their health questions.
     
  • GeneTests  [genetests.org]
    A searchable directory of United States and international genetics and prenatal diagnosis clinics. Go to the following link and click on "Clinic Directory" to find a genetic service close to you.
     
  • Find a Genetic Counselor [nsgc.org]
    A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
     
  • Genetic Centers, Clinics and Departments [kumc.edu]
    A comprehensive resource list for genetic counseling, including links to genetic centers and clinics, associations and university genetics departments. Hosted by the University of Kansas Medical Center.
     
  • Office of Rare Diseases Research (ORDR) [rarediseases.info.nih.gov]
    The Office of Rare Diseases Research is an office at the National Institutes of Health. This link provides general information about clinical trials.
     
  • Finding Reliable Health Information Online
    A listing of information and links for finding comprehensive genetics health information online.

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Last Updated: December 26, 2013