Rare diseases are mysterious, and many of them have not yet identified a cause. The ones we do understand are believed to come from mutations in a single gene, causing a genetic disease and perhaps explaining why so few people seem to be afflicted by them.
Unfortunately, the genetic mutations can be passed along to offspring and future generations, which means that once it appears in a family history, there’s a strong chance it may affect someone else down the road.
Although genetics are the primary suspect in rare diseases, other factors come into play. There are environmental factors such as chemical exposure, diet and smoking. Although none of these are believed to be the actual cause, they can work in tandem with genetic factors either to produce or increase the severity of certain rare diseases.
Grim Statistics About Rare Diseases
While the diseases are rare, they are front and center for families and individuals who are affected by them.
Joining the 10 percent of Americans afflicted with a rare disease are the Europeans, who have 30 million people who claim a rare disease. There are more than 350 million people worldwide estimated to have a rare disease, and that enormous figure means that if all of them were joined together in one country, it would be the world’s third-most populous country.