What Is an Orphan Disease?
An orphan disease is a rare illness that impacts very few patients and therefore does not attract attention or command much in the way of research. Treatment can be difficult to obtain for those suffering from an orphan disease. Since research into the illness has been neglected, information can be scarce as well. A disease may be abandoned, or “orphaned,” because there is little money to be made in seeking a cure.
The biggest criteria for labeling an illness an orphan disease involves the number of reported cases. If there are fewer than 200,000 cases of a particular disease in the United States, the profit potential for pharmaceutical companies is considered too low, and the high cost of research is not considered cost effective. This will cause an illness to fall into the orphaned category. Not all orphan diseases are unfamiliar to the public. A disease may be well known but still orphaned because it no longer occurs frequently outside of the third world. Some examples of this are malaria, typhoid, tuberculosis, and cholera.
The number of people who suffer from orphan diseases in the Untied States is surprising. Between 20 and 30 million Americans struggle with a condition that is rare enough to be considered an orphan disease. More than 6,000 diseases have been identified as orphan illnesses. There are more than 2,000 patient organizations in existence that offer support to patients seeking help and answers regarding these rare conditions.
The largest percentage of orphan diseases are genetic in nature. Other conditions that could be labeled as orphan illnesses include rare bacterial infections or little-known viruses. Certain allergies may also be categorized as orphans. Examples of orphan diseases include Alexander disease, ACTH deficiency, and fatal familial insomnia.
Treating an orphan disease presents serious challenges for both the doctor and the patient. A doctor may see only one case of an orphan illness within a year, if that. Since there may be few if any large-scale treatment programs for a particular orphan disease, therapy and medications can be difficult to come by. For some diseases, the areas of medical expertise that are required for treatment can be very broad. There is also very little incentive for a physician to specialize or devote time to study an orphan disease. All of these factors severely restrict a patient’s options.
The National Organization for Rare Disorders works to secure funding for research and treatment for orphan diseases. The organization also provides information to patients about support groups and medical options concerning their condition. Help for uninsured or underinsured individuals who suffer from an orphan disease is also provided by the NORD.