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.
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.
The government is getting involved in the push to find cures for rare diseases. The Orphan Drug Act of 1983 was a key initiative, providing tax incentives and other benefits for drug companies willing to explore treatments for rare diseases. Since its enactment, more than 340 treatments for rare diseases have been approved.
The National Institutes of Health (NIH) have also gotten involved in promoting new drug research for rare diseases. Their effort, the Therapeutics for Rare and Neglected Diseases program (TRND), aims to create a research pipeline that will integrate smaller and larger company efforts to develop treatments for orphan drugs. The National Institutes of Health Office of Rare Diseases Research will handle the oversight and governing of the new initiative, which will provide a facility administered by the National Human Genome Research Institute.
Patient Information
If you suffer from a rare disease or have a family member who is affected, you can get information from the Office of Rare Diseases Research online Genetic and Rare Diseases Information Center, which offers a searchable website. There are also information specialists available by phone, email, fax, TTY or postal mail.
Rare diseases often have support groups online. These non-profit organizations serve as a clearinghouse for research information, promote research and serve as political advocates for their constituents affected by particular rare diseases. Among the more prominent groups is the National Organization for Rare Diseases and the Genetic Alliance.
Unfortunately, an estimated 50 percent of rare diseases do not have such support groups.
There is also the Individualized Medical Clinic (known as the IM Clinic), which offers genomic testing for patients. Using a patient’s DNA, health care providers can get information that will help diagnose, predict or, in some cases, prevent rare diseases. The clinic has an application process, and not everyone is accepted. Clinics are available in Rochester, Minn., Scottsdale, Ariz., and Jacksonville, Fla. No travel expenses are provided, and patients must visit in person. No records are reviewed without an appointment.
The clinic focuses on advanced cancer treatments, rare and undiagnosed disorders that may have a genetic cause, and drug-gene testing, which makes sure the right drug and dosage is dedicated to a patient’s particular condition. The individualized attention often can help guide more effective treatments for the rare disease condition, avoiding some more serious complications in certain cases.