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Rare Diseases

In Doug Bermel's case, the misdiagnosis 21 years ago of multiple sclerosis (MS) led to delayed and inappropriate treatment of his true disease--adrenomyeloneuropathy (AMN). AMN is a milder form of adrenoleukodystrophy (ALD), one of a group of genetically determined progressive disorders known as "leukodystrophies" that affect the brain, spinal cord and peripheral nerves. Bermel, 48, of Corcoran, Minn., raised a red flag for his doctor when he mentioned that not only had his grandfather been diagnosed with MS--and in fact had died from it--but also that he had lost two brothers and several cousins to the same disease.

According to the United Leukodystrophy Foundation (ULF), the leukodystrophies are often misdiagnosed as MS because diagnosis of neurological conditions relies on subtle and circumstantial evidence, and, "even the most experienced clinicians may have difficulty" distinguishing between the two.

Because MS is not hereditary, Bermel's doctor suspected that the disease that had befallen his family members, and now him, was not MS because of its genetic pattern of inheritance. An in-depth family history revealed that Bermel and his brothers had a 50 percent chance of getting either ALD or AMN because their mother was a carrier of the gene. Following his diagnosis of AMN, two more of Bermel's brothers died of the disease.

For rare disease patients there may be no cures, but treatments of the symptoms can help. Having the support of family and friends, patient advocacy groups, and disease associations like ULF is also helpful.

"I had to learn to accept help from other people," admits Bermel, who uses a wheelchair and sometimes walks with a cane. "Now, when somebody helps me, I know they feel good about it, and that makes me feel better."

In addition to finding emotional and educational support, participating in a clinical trial may be a way to receive the most advanced care for some diseases.

People who experience unexplained symptoms, recurrent infections, and pain that have gone undiagnosed for a long period of time might want to visit a referral center that is experienced in diagnosing patients with rare diseases.

Some rare diseases do not have clearly defined treatment guidelines and require the specific skills of an expert physician. Be sure to go to a hospital that is familiar with treating people with multiple problems.

Rare Diseases and the Internet

New Web-based support groups continue to proliferate. Not only are people receiving comfort from others with the same conditions, but they are learning from each other's experiences as well. By the late 1990s, most nonprofit organizations had Web sites where people could ask questions and get immediate responses.

Nevertheless, people diagnosed with a rare disease often are vulnerable to misguided assistance. While Stephen C. Groft, Pharm.D., director of the National Institutes of Health's Office of Rare Diseases(ORD), encourages people to use the Internet to find information, he also warns that it is dangerous to rely solely on the computer for medical advice.

"Be cautious about unproven remedies and miracle cures being touted over the Internet," he says. Too often misleading or inaccurate information is given out that can do more harm than good. In addition, one person's experience may vary greatly from another's. The Internet, he adds, should complement the communication between patients and their doctors, not replace it.

Support for Research

Congress passed the "Rare Diseases Act of 2002," establishing a role for the ORD at the NIH in encouraging orphan disease research. The ORD provides information on rare disease, diagnosis, and treatment. The office links investigators with research subjects and patients, identifies rare diseases where research is lagging or lacking, identifies rare disease research opportunities, and supports research in those areas.

The Rare Diseases Act authorized the expansion of national research in developing diagnostic tools and treatments for patients with rare diseases. In addition, Congress approved funding for several regional Centers of Excellence on rare disease. The ORD makes grants to public or private nonprofit organizations to cover the cost of basic operating expenses for clinical research at these centers. These grants support training in and demonstration of diagnostic, prevention, control, and treatment methods for rare diseases.

The ORD responds to public inquiries about rare diseases, supports national and international scientific workshops, and maintains the ORD Web site and interactive rare diseases list. The workshops benefit the rare diseases community through promoting research, patient care, and disease awareness.