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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 shouldbe 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?
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. 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
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, 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
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.
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.
Additional Resources for Families of Children with Undiagnosed Conditions
- Syndromes Without A Name (SWAN)
A supportive organization for families of children who have undiagnosed, unnamed
conditions, or who are still looking for a diagnosis.
- Syndromes Without A Name USA (SWAN USA)
The USA organization for SWAN.
- MUMS National Parent-to-Parent Network
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
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.
- GeneClinics
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.
- ResourceLink
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
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 (ORD)
The Office of Rare Diseases 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.
Last Updated: March 10, 2008
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