Inside the World of Rare Diseases

By Matt Windsor

In some cases, rarity is a blessing. Fine art and old postage stamps, for example, benefit from scarcity, as do exotic sports cars—everyone wants to have one because not everyone can. In the medical field, however, rarity is a curse. Most of us know at least a little something about breast cancer, since it has touched so many of our lives. Few have ever heard of tuberous sclerosis or Angelman syndrome. This includes the family doctors and other physicians who first detect the signs of these conditions in their patients.

"The fact that a disease is rare means that most physicians don't have a lot of firsthand experience with it," says Bruce Korf, M.D., Ph.D., chair of UAB's Department of Genetics. "They can go to a book and read about it, and there are Web sites that provide some information, but if they haven't had a lot of personal experience in treating people with a particular disorder, they are often unable to give very good advice to families. Their knowledge is colored by what they happen to have read, which may or may not be accurate, and they sometimes have a tendency to overstate the severe things, to get people more involved in invasive tests than they need to, and to miss things that are subtle, but which could evolve into more serious problems."

Isolated by their conditions, "patients with rare disorders tend to be very lonely," says Korf. "They don't often feel that their physician really knows enough about their condition to be that helpful and frankly, many of them learn more about their condition than their doctor knows."

This is the reason why patients seek out the specialized clinics offered at academic medical centers such as UAB. After a while the staff at these clinics have seen so many cases that they're in a position to give good advice. Academic medical centers are also some of the few places willing to invest research funds in the study of diseases with patient populations too small to attract the attention of drug companies or the general public. 

In recent years, UAB has drawn on the strengths of its internationally recognized clinicians and researchers to open clinics for numer­ous rare diseases, from relatively common conditions, such as neurofibromatosis, to those that are rare even among the rare, such as Fabry disease. But why would a young physician or researcher ever steer his or her career into such uncharted territory, deliberately choosing to take up residence in these forgotten corners of the medical world? In the stories that follow, UAB's rare disease experts offer a glimpse into the personal and scientific motivations that drive them on.