Catch a cold? That’s common.
Have a flesh-eating bacterial infection? That’s rare.
Every year, 64,000,000 Americans catch at least three colds. But currently only 200 US resident are afflicted with an infection with the vibrio vulnificus bug that killed six people and New York and Connecticut last summer.
Vibrio is only one of the 7,000-plus rare diseases identified by the National Institutes of Health (NIH) and the Centers for Disease Control and Prevention (CDC).
How rare is rare? The CDC says it’s an illness or condition that affects fewer than 200,000 people in the United States, although there are some outliers that have afflicted larger numbers–such as multiple sclerosis which afflicts one million of us–but are still considered rare diseases.
About 80 percent of our rare diseases are genetic as, apparently, are such common health risks as heart disease, high blood pressure, arthritis, diabetes, and obesity. Either too many or two few sex chromosomes (aneuploidy) are linked to common X/Y conditions including the misunderstood double Y chromosome situation which, contrary to common wisdom, does not translate to super masculinity. Ethnicity also counts. Think about the higher incidence of cystic fibrosis among Jews and sickle cell anemia among Blacks. The rest of the “rares” may be traced to environmental factors, and just plain one-at-a-time accidents such as a birth defect and bacterial or viral infections.
Altogether, this is one real Big Deal. As Dr. Christopher P. Austin, director of the National Institutes of Health’s National Center for Advancing Translational Studies told the World Orphan Drug Congress USA, “All together, rare diseases they have the same prevalence as type 2 diabetes — about eight percent of the population — yet I would bet no more than one in 1,000 people on the street know that.”
One reason is that diagnosing these illnesses and conditions can be tricky. In some cases, their symptoms mimic other illnesses or do not match the textbook definitions. And even when medicos know what’s happening, there may be no way specific drug available. Rare disease meds are called Orphan drugs which is not a joke. Alas, it isn’t simply finding a drug that works. It’s paying for it, as well.
Thirty years ago, Congress passed an Orphan Drug Act. The good news is that this has grown the rare pharmacopeia to about 400 medicines which account for about 20 percent of all drug sales worldwide. The bad news is that even with Federal incentives such as tax credits for research, development, and clinical trials the average cost of one year’s worth of an orphan drug for an American patient can hit near $151,000, nearly five times the cost of a non-orphan drug. In short, a natural loss leader for profit oriented Big Pharma.
No surprise then that FDA encourages rare disease patients and caregivers to become their own best advocates by clicking on to the Genetic and Rare Disease (GARD) site at https://rarediseases.info.nih.gov/. The National Organization for Rare Disorders (NORD) at https://rarediseases.org/ has links to treatment centers and financial assistance plus an invite to Washington for next month’s two-day Rare Diseases and Orphan Drug Products Breakthrough Summit. For those most seriously involved, https://rarediseases.org/living-with-a-rare-disease/clinical-trials/ offers paths to trials designed to find a treatment or even a cure for one rare disease. Imagine the triumph of that rare moment.