Hope for People With Rare Diseases : Managing Rare Diseases

by Food and Drug Administration (FDA)

Jumping Frenchmen of Maine sounds like an uproarious, modern-day stage show or even a new wave rock group. But it's neither. It's the name of an unusual disorder that causes an extreme startle reaction to unexpected noises or sights. Though little is known about Jumping Frenchmen of Maine, the disorder and more than 6,000 other rare or "orphan" diseases are receiving increasing attention from government, patient groups, and the pharmaceutical industry.

An orphan disease is defined as a condition that affects fewer than 200,000 people nationwide. This includes diseases as familiar as cystic fibrosis, Lou Gehrig's disease, and Tourette's syndrome, and as unfamiliar as Hamburger disease, Job syndrome, and acromegaly, or "gigantism." Some diseases have patient populations of fewer than a hundred. Collectively, however, they affect as many as 25 million Americans, according to the National Institutes of Health (NIH), and that makes the diseases — and finding treatments for them — a serious public health concern.

Most Inherit Orphan Diseases

New rare diseases are discovered every year. Most are inherited and caused by alterations or defects in genes (mutations). Others can be acquired as a result of environmental and toxic conditions. Genes are pieces of DNA, part of the code that determines the traits and individual characteristics of all living things. Each human cell contains around 30,000 genes. Besides influencing features such as eye and hair color, genes also can play a role in the development of diseases and in their transmission from parent to child.

As disparate as rare diseases are, patients share many common frustrations. For example, for one-third of people with a rare disease, getting an accurate diagnosis can take one to five years. And people often are so isolated that they may never know anyone else with the same disease. Patients often must travel long distances to visit the few doctors knowledgeable about their illnesses, and the costs involved with diagnosis, treatment and other related expenses can be exorbitant.

Stephen C. Groft, Pharm.D., director of the NIH Office of Rare Diseases (ORD), says that in understanding health and diseases, scientists must study rare diseases that affect smaller portions of the population as readily as those, such as cancer, for which research and treatment can result in benefits to a greater number of people.

"Many advances are not only the direct result of years of rare disease research," Groft says, "but also from the emphasis that NIH places on both basic and clinical research." The course that a rare disease takes often may represent an exaggerated form of a common disease pathway, he says, and studying one helps scientists learn about the other.

A genetic lung disease known as alpha-1-antitrypsin deficiency, for example, produces a form of emphysema that develops 10 to 30 years earlier than the more prevalent form common to smokers. Because it affects young people, it can be studied apart from any complicating factors, such as the aging process, to enhance what researchers already know about the disease.

Managing Rare Diseases

Many rare diseases or conditions can be difficult to diagnose and manage because in their early stages, symptoms may be absent or masked, misunderstood, or confused with other 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 (see "Clinical Trials: Testing Medical Products in People," September-October 2003 FDA Consumer).

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.

About the Author

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