1. Cystic Fibrosis, a disease of the digestive and respiratory systems;
2. Huntington’s Disease, which attacks the brain and nervous system;
3. Muscular Dystrophy, the Jerry Lewis Telethon’s nemesis, which causes muscle wasting;
4. BRCA1 and BRCA2 cancer genes, which trigger ovarian and breast cancers
5. The FAP gene, which can cause colon cancer.
6. Hodgkin’s Lymphoma, a type of cancer that appears in mid-life
7. Landau Kleffner Syndrome, a disease that causes loss of expression of a verbal language and comprehension of same, combined with seizures.

While the cause of most of these diseases is believed to be genetic, there are also environmental triggers attached to some. Diets deficient in certain vitamins and minerals, anemia issues that deplete the body of vitamins and minerals, and things like asbestos exposure can bring on certain conditions. Smoking and a bad diet are also factors, and while they are not the proximate cause, they can work in tandem with whatever factors cause the rare disease.

The genetic component to rare diseases is believed to stem from imperfections in a single gene. That may explain why so few people acquire certain rare diseases and why cures for them remain so elusive. What is known is that the genetic issues can be passed to future generations. Once someone in a family tree has a rare disease, the risks of future offspring getting it are increased, although there is no guarantee that any one individual will have it. But even those who don’t acquire the rare disease can still pass the defective gene along to their offspring.

GRIM STATISTICS

Most rare diseases have no cure. Worse, some diseases have no apparent cause, and some patients present with symptoms so rare that they baffle medical professionals at first. These undiagnosed conditions can be extremely frustrating for families, who watch loved ones struggle and doctors unable to do more than guess on things that may be effective in at least limiting some of the symptoms.