Do You Have a Rare Disease?

Right Choice Index

Page Contents

Acquiring a rare disease

Do you have an
undiagnosed disorder?

What should patients be
aware of?

Help for patients

Site Contents

Patients & visitors

Medical professionals

Yale-New Haven
Children's Hospital

General information

Calendar

Online resources

Press information

Phone Numbers

Directory assistance
(203) 688-4242

Patient Information
(203) 688-4177

Adult emergency
(203) 688-2222

Children's emergency
(203) 688-3333

Admitting
(203) 688-2221

Children's admitting
(203) 688-3331

Psychiatric admitting
(203) 688-9907

Mailing address:

Yale-New Haven Hospital
20 York Street
New Haven, CT 06504

What is a rare disease?
Approximately 6,000 rare diseases are known to exist and new ones are discovered each year. In the United States, rare diseases are defined as those affecting 200,000 or fewer people. Examples of rare disorders are: autism, neurofibromatosis, cystic fibrosis, epidermolysis bullosa, ectodermal dysplasia, Huntington's disease, Marfan's disease and Tourette's syndrome. Sadly, many rare diseases strike at a young age.

Acquiring a rare disease

Approximately 80 percent of rare diseases are not acquired; they are inherited. They are caused by mutations or defects in genes. Specific inherited conditions are more common in some ethnic backgrounds than others.
Some rare diseases are acquired as a result of environmental/toxic conditions.
World travel can introduce diseases from other countries.

Do you have an undiagnosed disorder?
Many rare diseases or conditions can be difficult to diagnose and manage. In the early phase of the disease, symptoms may be absent or masked, misunderstood or confused with other diseases. Almost 33 percent of patients surveyed with rare diseases indicated they did not receive correct diagnoses for over five years. Mistaken diagnosis often leads to inappropriate treatment, medications and surgeries resulting in unnecessary complications and side effects.

If you have unexplained symptoms that have gone undiagnosed for a long period of time, recurrent infections and pain, or more than one family member with the same symptoms, you may have a rare disorder. You need to visit a referral center experienced in diagnosing patients with rare diseases.

What should patients be aware of?

Many rare diseases can be treated, once correctly diagnosed. Others do not have clearly defined treatment guidelines and require the specific skills of an expert physician.
In addition to the medical implications of a rare disease, these conditions can be very stressful, especially for children.
If you have a rare disease and are hospitalized for another problem, be sure to go to a hospital familiar with treating patients with multiple problems, including individuals with your rare condition.
For many rare diseases there may not be cures, but treatment of symptoms can help.
The support of family and friends, support groups and disease associations is crucial.
Participating in a clinical trial may be one way to receive the most advanced care.
Persons with rare diseases are always at risk for unproven and fruitless remedies and should be cautious about miracle cures.
Managed care may delay referrals to the appropriate specialists so patients must be prepared to push to receive optimal care.

Help for patients
There are several ways for patients with rare diseases to stay up-to-date:

Information on rare diseases is now available through the Internet. The National Institutes of Health (www.nih.gov) maintains web sites that provide information and links to various databases on rare diseases, including: information about genetic counseling, clinical guidelines, ongoing clinical trials and individual support groups.
The National Organization for Rare Disorders (www.rarediseases.org) provides detailed reports about rare diseases including description, causes, affected population, related disorders, standard therapies, resources and references.
Check with the leading hospitals in your area to see if they have a support group.
Find out if your disease has a national or state organization that provides information, support and advocacy for individuals with your disorder.
Ask your doctor to refer you to a medical center like Yale-New Haven Hospital, known for its diagnostic ability, second opinions and physicians who specialize in rare diseases.

Choose Yale-New Haven Hospital
Yale-New Haven Hospital, affiliated with Yale University School of Medicine, offers a comprehensive array of services for patients with rare diseases:

Comprehensive care for a broad range of hereditary and gene-influenced conditions, including diagnosis and management.
Genetic counseling and advice regarding travel, insurance and employability.
New diagnostic insights through CT scans, MRI and PET scans
Extensive laboratory services (biochemical disease detection, molecular cytogenetics, molecular diagnostics and clinical microbiology) are available to provide sophisticated tests to differentiate rare disease from common problems.

Call (203) 688-2000 or toll free (888) 700-6543 to speak with a health information coordinator or request an appointment. You can also get physician information or request an appointment on this web site.

Last revised: March 8, 2004 (cfs)