Sadly, 50 percent of the people afflicted with a rare disease are children, and because the diseases are largely genetic in origin, it means that they can strike at any point in one’s life, even if they initially do not manifest any symptoms. Rare diseases are particularly deadly for children, causing 35 percent of deaths in the first year of life.
How Common Are Rare Diseases?
Some 80 percent of all rare disease patients have one of approximately 350 rare diseases. Among the more well-known types of rare diseases are cystic fibrosis, which affects the respiratory and digestive systems; Huntington’s disease, which targets the nervous system and brain; muscular dystrophy, a wasting disease of the muscles; and the BRCA1 and BRCA2 cancer genes, which are responsible for certain types of ovarian and breast cancers. There’s also the FAP gene, which can leave carriers vulnerable to colon cancer.
Some rare diseases believed to be affected by environmental factors include certain types of anemia that are triggered by certain medications or diets deficient in vital vitamins and minerals. A rare cancer, mesothelioma, which targets cells lining the chest cavity, is also environmentally caused by exposure to asbestos, a fireproofing material widely used in construction and fireproofing.
Research and Cures for Rare Diseases
Some 95 percent of rare diseases do not have a cure at present, according to the Everylife Foundation for Rare Diseases. Unfortunately, some rare diseases languish because the profit potential for pharmaceutical companies isn’t present with such a small potential audience. Putting large amounts of personal attention and research funding into the development of drugs to cure so-called orphan diseases has not been practical for larger companies, which need blockbusters capable of sustaining large operations over the long periods of time necessary to get a drug developed and approved. However, with the rise of gene therapy and upstart biopharmaceutical companies, there’s new research and new hope for sufferers.