Rare Diseases

Not a rock band

Jumping Frenchmen of Maine is not a gymnastics group or a New England rock band but rather an extremely rare disorder characterized by an unusually extreme startle reaction. First identified during the late 19th century among lumberjacks of French Canadian descent, Jumping Frenchmen of Maine is one of nearly 7,000 rare diseases that exist in the United States. A rare disease is one that affects fewer than 200,000 people. More than 25 million Americans have one of these diseases, which are sometimes called orphan diseases. Some rare diseases, like cystic fibrosis and Lou Gehrig’s disease, are relatively familiar. Others, like Hamburger disease or Job’s syndrome, may have a patient population of less than a hundred. Many such diseases have little or no treatment available and are often misdiagnosed. New rare diseases are discovered every year. Some are caused by genetic mutations, while others are the result of environmental factors.


Acromegaly is a rare, slowly progressive, acquired disorder that affects adults. It occurs when the pituitary gland produces too much growth hormone. The symptoms of this rare disease include abnormal enlargement in the bones of the hands, arms, feet, legs, and head. Acromegaly may also cause thickening of the soft tissues of the body, including the heart, lips, and tongue. When the disease affects children prior to the end of puberty, excess growth hormone can lead to accelerated growth and tall stature, known as gigantism. Acromegaly is usually treated by surgery, medications and radiation therapy. Researchers estimate that three people out of every million develop the disorder each year. However, because the symptoms of acromegaly may develop slowly, the disorder may often remain unrecognized and may therefore be underdiagnosed, making it difficult to determine the true frequency of acromegaly in the general population.

Carney complex

Carney complex is a genetic disorder that is characterized by abnormalities in skin coloring resulting in a spotty appearance to the skin of affected areas. Brown skin spots called lentigines may appear anywhere on the body but tend to occur around the lips, eyes, or genitalia. In addition, some affected individuals have at least one blue-black mole called a blue nevus. Benign tumors of connective tissue are common in individuals with this rare disease. The tumors are most often found in the heart where they can potentially cause life-threatening complications like stroke or heart failure. Approximately 600 cases of Carney complex have been reported since the disorder was first described in the medical literature in 1985. A diagnosis can be confirmed in some cases through molecular genetic testing. The treatment of Carney complex is directed toward the specific symptoms and may require the coordinated efforts of a team of specialists.

Q fever

Q fever is an infectious disease that is spread by the inhalation or ingestion of a bacterium known as Coxiella burnetii. The bacterium is spread mainly by breathing contaminated air or eating or drinking a contaminated food. Farm workers, especially those who work with animals, people who work in slaughterhouses and veterinarians are especially vulnerable to this disease. Because infection can occur as a result of airborne transmission and the agent is very resistant to environmental conditions, it was included on the list of possible bacteriological weapons. Acute Q fever is usually characterized by flu-like symptoms such as high fevers, chills and headaches. Q fever is a zoonosis, a disease that can be transmitted from animals to humans. Antibiotic therapy is used to treat individuals with Q fever. Some mild cases of Q fever may improve without treatment, although antibiotic therapy usually reduces the duration of the infection.

Orphan drugs

At one time patients diagnosed with a rare disease were denied access to effective medicines because prescription drug manufacturers couldn’t make a profit from marketing drugs to such small groups. Despite the urgent health need for these medicines, they came to be known as orphans because companies were not interested in adopting them. This changed in 1983 when Congress passed the Orphan Drug Act or ODA. The ODA provides incentives for drug companies to develop treatments for rare diseases. Since 1983, the ODA has resulted in the development of more than 250 FDA-approved orphan drugs which now are available to treat a potential patient population of more than 13 million Americans. In contrast, the decade before 1983 saw fewer than 10 such products developed without government assistance. As a result of the ODA, treatments are available to people with rare diseases who once had no hope for survival.

Trusted by thousands of listeners every week, T. Glenn Pait, M.D., began offering expert advice as the host of UAMS’ “Here’s to Your Health” program in 1996. Dr. Pait began working at UAMS in 1994 and has been practicing medicine for over 20 years.

By | 2017-03-16T15:37:54+00:00 March 16th, 2017|Here's To Your Health|0 Comments