5 Facts About Rare Diseases

Rare diseases are defined as those which affect fewer than 200,000 people in the United States. The exact type of disease is not important—it can be any kind of condition, illness or syndrome. The only requirement is that it affects relatively few people. 

The fact that rare diseases affect so few people leads to its greatest dangers—inconclusive or unknown treatment options as well as lack of public awareness and acceptance. Many people who suffer with a rare disease have difficulty in finding the right treatment for their condition—or even in being diagnosed. In many cases it can take months or years to go from diagnosis to treatment. Here are five interesting facts about rare disease.

Nearly Ten Percent of Americans Live with a Rare Disease

For a condition to be a rare disease, no more than 200,000 people can have it. There are more than seven thousand different rare diseases, so there are people everywhere who live with a very poorly understood condition. 

Most estimates show that approximately thirty million Americans live with a rare disease. The size of this number emphasizes how important it is to research and learn about rare diseases. Even though one individual condition can affect less than one-tenth of one percent of the American population, it’s not about the numbers–it’s about people’s quality of life. 

To get into the numbers and provide some kind of context, estimates from 2014 show that 14.5 million Americans had a family history of cancer. A further 1.5 million Americans suffer from a stroke or a heart attack each year. Together, these 16 million Americans only make up half of the entire population suffering from rare diseases. 

While it is important to spend money and effort to research cancer and heart disease, researching these rare diseases is of great importance as well. Rare diseases impact far more Americans and are far less well understood than strokes and certain cancers. There is plenty of research left to be done in order to understand these conditions better and to improve the lives of the millions of United States citizens who suffer from them.

Diagnosing and Treating Rare Diseases is Difficult

Simply finding out that you suffer from one of these rare diseases is difficult. Many of the symptoms for a rare disease are also symptoms for many more common conditions. some  are undeniably vague, so knowing to associate them with one rare disease or another is difficult. An accurate diagnosis could take months or even years and require trips to many different specialists. In fact, some estimates find that most patients with rare diseases have to visit at least seven different doctors before being accurately diagnosed.

The difficulties do not end in just getting a diagnosis. Finding the right kind of treatment for your condition can be even more difficult. Current estimates show that only five percent of rare diseases have effective treatment options. 

Sadly, there is very little incentive for research into these conditions. However, The United States government is at least aware of this issue. In 1983, the Food and Drug Administration offered grants to researchers in universities and pharmaceutical companies to find cures for these diseases. This isn’t much, but it at the very least sets a talking point for future recommendations.

Many Patients Could Benefit from Genetic Testing

Anywhere from a quarter to a third of rare diseases can be detected via genetic testing. Genetic testing can circumvent the problems of diagnosing a rare disease from symptoms alone. You can instead use genetic testing to accurately diagnose a rare disease and look into potential treatment options. This still doesn't solve the problem of having a cure. However, knowing that you have a rare disease can help you find treatments to help with symptoms.

Having a Rare Disease is Expensive

Living with a rare condition can get very expensive. There's the cost of medications that can help you keep your disease under control. It also costs money to travel back and forth to visit various different specialists just to get accurately diagnosed. There are also deductibles in many cases and time and energy spend trying to get an accurate diagnosis. All of the costs can start to add up. There are, however, some programs that can help. 

The National Organization for Rare Diseases (NORD) has a patient assistance program. NORD also provides lists of other resources for patients and family members. Living with a rare disease is expensive. The better news is that organizations like NORD recognize this and help. They help patients who need help with paying for travel as well as with testing, visits, and medications.

Support Can Make all the Difference

Having friends, family and/or support groups can make all the difference in your quality of life. Finding other people who suffer with the disease can be a great way to get the support that you need. You can share stories, tips and findings with each other. 

The National Organization for Rare Diseases facilitates finding support groups. Their website is an excellent resource for finding other people who are living with a rare disease. There are also groups available for friends and family. Life with a rare disease can be pretty tough, but it can be much easier with the support of others.