Even if a disease affects a relatively small number of people, it can have a large impact on them and their families. In the U.S., a rare disease is defined as one that affects fewer than 200,000 individuals; however, some 30 million Americans suffer a rare disease, about 1 in 10 people, of whom two-thirds are children. Global Genes, a funding and advocacy group, has compiled a database of more than 7,000 rare diseases. In the European Union, 245,000 people have one of 6,000 rare diseases. Globally, more than 350 million people suffer from a rare disease; more than half of those affected are children. Rare diseases tend to be lifelong and can be life-threatening.
How It All Came About
As the name implies, rare diseases are precisely that. However, they affect a very large number of people. So, in an important effort to raise awareness of these facts and give an urgent call to action to need for care and – eventually – cures, the European Organisation for Rare Diseases (EURORDIS) in 2008 declared the last day of February, which fell on the leap year day of the 29th, Rare Disease Day. The following year, in 2009, the National Organization for Rare Disorders (NORD) extended this important annual awareness campaign in the United States. And by 2011, 46 countries worldwide were observing World Rare Disease Day, according to Rare Diseases International.
This year, 2016, is also a leap year, a rare day for rare diseases. EURODIS has a very informative Web page on its efforts to promote global awareness, along with an official video. The theme for 2016 is “Patient Voice”; the slogan is “Join us in making the voice of rare disease heard.”
There are so many rare diseases, and each one affects a relatively small number of people. It is for that reason many rare diseases have received little or no attention in the scientific community. In addition, for a good number of these diseases, there is no pharmacologic treatment available. Although these diseases are diverse, common symptoms can mask the true disease, making misdiagnosis more likely. In other cases, the symptoms can vary among people suffering from the same disease. What’s more, according to the Global Genes project, some 80 percent of rare diseases are genetic. This means the condition is present throughout the individual’s life, even if symptoms do not appear. Though we may not able to offer a cure, the more we can learn about these individuals, the better we will be able to meet their needs.
Important to Know
- More than half the people with a rare disease are children.
- Although, in itself, cancer is not a rare disease, many types of cancer are.
- Drug treatment is available for only 5 percent of rare diseases. That means that for 95 percent of rare diseases, there is not a single FDA-approved drug.
