When you are affected with a deadly or debilitating disease, your experience isn’t made less serious because few other people have it. As a matter of fact, dealing with a rare disease has the potential to be more difficult and isolating than having a condition that is more common.
February 29 is Rare Disease Day, a day that brings attention to the approximately 7,000 diseases that are officially considered “rare.” Even though they affect relatively few of us, it’s important that we continue to look for ways to help the people who have them feel supported and get the treatment and information they need.
What Are Rare Diseases?
In the United States, the National Institutes of Health (NIH) classify a “rare” disease as one that affects fewer than 200,000 people. Eighty percent of these diseases are genetic, and half of them affect children.
Rare diseases are particularly challenging for the people who have them, for a number of reasons. For starters, they are much more difficult to diagnose — usually requiring someone to make multiple doctor visits just to find out what they have. And because they don’t affect as many people as many other diseases, not as much money is being directed to researching causes and treatments, and there is no wider community to share experiences and treatment ideas with.
According to Pharmaceutical Research and Manufacturers of America, only 5 percent of rare diseases have any “approved” (by the FDA) treatments.
Rare Diseases in the News
Despite rare diseases being less common than diabetes, for instance, you have likely heard of some of them — like Ebola, Huntington’s disease, amyotrophic lateral sclerosis (ALS), and Middle Eastern respiratory syndrome (MERS).
One doesn’t have to look far to see diseases like the Zika virus and coronaviruses in headlines. Because the Zika virus is spreading “explosively,” the World Health Organization is making moves to term the virus an “international health emergency.”
Ebola was the last such emergency, and while 36 percent of the people who have been diagnosed with MERS have died, it has not yet been named a global emergency.
ALS made headlines in 2014 when social media exploded with the “ice bucket challenge” that was created to raise awareness of the disease — which affects an estimated 30,000 people in the United States. The viral campaign raised over $115 million for ALS research.
The Difficulties for Sufferers
In addition to the difficulties associated with finding the proper treatments, people who are diagnosed with rare diseases don’t usually have a community to turn to. Finding a local support group to connect with other patients, or a mental health expert to help talk through the struggles specific to an illness, can be hard when there are only a handful of other people who are affected by it across the whole country.
However, with the ability to connect over the Internet, this is improving. The National Organization for Rare Disorders, for instance, has a complete listing of patient organizations. Likewise, support groups have popped up on social media to connect patients that would otherwise not have contact with one another.
Advancements in Treatments for Rare Diseases
In an effort to direct more resources to the development of such treatments, the Orphan Drug Act of 1983 created incentives for pharmaceutical companies that create them — and they now charge hefty prices for new and exclusive drugs, giving them further impetus to develop them.
As a result, about one-third of all new drug approvals over the last five years were for rare diseases.
In 2015, for instance, an Ebola vaccine was found to be highly effective against the rare disease that spread widely throughout 2014. Such developments are expected to spread, though costs will certainly be a concern.
A rare disease may not affect someone you know — you could go your whole life without meeting someone who has one. But that doesn’t mean they don’t matter to the people who are affected by them. We should all do what we can to help raise awareness and funding for research and treatments that can help.