How rare are rare diseases?

The answer is: not very.

You’ve probably read in the news by now that a major outbreak of bubonic plague (yes, that bubonic plague) is striking Madagascar. Reaching at least twenty of the island nation’s 114 districts, including the capital city of Antananarivo, this virulent disease has affected over 500 people. This devastating outbreak is unusually large and rapid, and both civilians and doctors are extremely concerned about its implications.

You might think of plague as rare, a relic of the Middle Ages, but it isn’t. It’s actually shockingly common. According to the Center for Disease Control, the flea-borne disease affects at least 1,000-3,000 people per year across the globe. And when it has a major outbreak, it makes the news.

All of this puts plague in stark contrast to, say, metachromatic leukodystrophy, a disorder which corrodes the brain’s connections with the muscles and sensory nerves. Never heard of it? That’s not surprising—less than 1 in 40,000 people suffer from the disorder, or at most about 8,000 Americans. This makes metachromatic leukodystrophy one of a wide variety of infrequently seen, and often tongue-twistingly named, “rare diseases.”

A rare disease is any disorder which affect fewer than 200,000 people. They come in all shapes and sizes—cancers, hemophilias, deficiencies, etc. They tend to be genetic, and they tend to be deadly. And since they are so rare and unknown, they are often isolating and devastating to families.

The fact that a single disease, like metachromatic leukodystrophy, affects so few people can make rare diseases seem like a minor issue. But their footprint is much larger than you think: there are probably about 7,000 different rare diseases, and the National Institutes of Health estimates that 25-30 million—million—Americans suffer from rare diseases.

That’s almost 10 percent of Americans suffering from so-called “rare diseases.” This sounds like a lot because it is a lot. A person is more likely suffer from a rare disease no one has ever heard of than to be diagnosed with lung cancer. More likely than not, you know someone who has a rare disease.

Another characteristic which, unfortunately, is common across rare diseases, is that they are extremely difficult to study and cure.

Innovative companies like Novartis, Abeona Therapeutics, Spark Therapeutics, Rocket Pharma, and others have been working on a promising new method called gene therapy. Gene therapies actually inject new genes directly into a patient’s body. Many of these diseases, like metachromatic leukodystrophy, are caused by a single mutated gene. In this case, gene therapy has the possibility to replace the dysfunctional gene with a healthy one; in others, new genes can be developed which give the body the ability to fight a deadly disease.

When a new treatment is approved by the FDA to fight a rare disease, it’s a big deal for everyone involved. But only 326 new drugs have been approved by the FDA for rare diseases since 1983.

Though a lot of people have rare diseases, this 10 percent of Americans are suffering from as many as 7,000 different diseases. Again, each individual disease affects fewer than 200,000 people. That’s far less than a percentage of a percentage of the American population.

Many of these estimated 25 million are not even diagnosed. Because thousands of people contract the bubonic plague every year, if scientists want to study it or test solutions, it is relatively easy to find willing subjects. When you are dealing with a disease like metachromatic leukodystrophy, which has only an estimated 8,000 American victims, it can be extremely tricky to locate, and sign on, the patients needed for clinical trials.

Clinical trials are scientific tests in clinically controlled environments. They allow scientists to develop new treatments, test new methods, see how patients will respond to new technologies, etc. They are also a vital step in obtaining approval by the FDA to produce a drug. And for many patients suffering from rare diseases, clinical trials can be their first or only chance to get effective treatments.

The process of finding and recruiting patients for clinical trials can be difficult and expensive. With only a few thousand people suffering from any one disease, oftentimes without even knowing about it, the line between a single study and all of these disparate potential patients can be long and winding indeed. Patient advocates groups, online Facebook groups, and other advocacy organizations work to connect people with studies, but most often, patients learn about studies from their doctors. This usually happens at the time when they get diagnosed or present symptoms, if the study is nearby and current, and if the doctor is informed enough to know about the trial.

There are many online resources available that use the connective power of the internet to help patients find trials. Often, however, they feel as cryptically organized as the government’s Wing, takes a more patient-centric approach by listing every single clinical trial around the world, which, currently, is over 55 thousand trials: an overwhelming number. To give patients the power to actually utilize the information, we allow patients, physicians, and research facilities to set up detailed profiles. Patients can search for and enroll in studies, but they can also set up alerts so we keep them informed about new studies in their area which might be useful to them or their loved ones. We can also contact doctors about studies which can be helpful to their patients, set up visits to research facilities, and even allow studies to reach out to patients digitally. Where some of these online resources feel cold and prohibitive, ours is designed to be user friendly and approachable, connecting people to people.

Scientists who are trying to save lives should be able to access the patients they need to develop their treatments. Patients should have the ability to be informed about the new treatments being studied which may help them. Wing attempts to do just this.

Doctors and patient advocates are currently, and may always be, the most important link between patients and their potential cures, and Wing is a tool which everyone can use to make this link clearer and easier. Having a rare disease is difficult enough. If there is a study which can potentially treat it, finding that study shouldn’t be a harrowing experience.

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