6 Essential Facts about Rare Diseases

Rare diseases are not as rare as you might think. In fact, the term “rare disease” is a misnomer that has led to much confusion regarding just how widespread these illnesses really are.

Here are six essential facts about rare diseases that will help dispel the myths surrounding them:

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1. There Are 7,000 Rare Diseases

That’s right — there are actually over 7,000 known rare diseases and counting. It is easy to think that a “rare disease” can’t be too serious when there are only a few of them, but the list of symptoms associated with these illnesses is extensive and debilitating.

People who suffer from rare diseases, and their families, often rally together in an online community to seek support and share stories. Many of these communities can be found on the social media platform Reddit.

2. 90% of Rare Diseases Affect Children

That makes sense — when you think “rare,” you don’t necessarily think “children,” but 9 out of 10 people who suffer from a rare disease are under the age of 18.

Many genetic abnormalities that cause development disorders occur before birth; however, there are other causes such as exposure to teratogens (chemicals or infections), poisons, toxins, and radiation that directly affect the fetus while still in the womb.

While children are more susceptible to these detrimental outcomes, adults can also develop a rare disease due to unknown causes or exposure to harmful substances. Although some rare diseases do have a later onset, most of them will surface before age 18.

3. 1 in 12 People Will Suffer from a Rare Disease at Some Point in Their Life

Most people might expect this statistic to pertain only to young children and senior citizens, but there is also a great chance that an adult who lives into their 60s, 70s, or 80s will be affected by a rare disease during their lifetime.

In fact, many people with conditions such as cystic fibrosis, Parkinson’s Disease, multiple sclerosis, and chronic fatigue syndrome are misdiagnosed with a rare disease because their symptoms are so severe.

4. Treatment for Rare Diseases Is Often Limited or Non-Existent

Although government organizations such as the National Institutes of Health (NIH) have contributed greatly to the advancement of research for rare diseases, most progress has been made by advocacy groups that raise funds to secure funding for research. For many patients, treatments are extremely hard to come by, expensive, and often ineffective.

It is unfortunate that even though there are just over 7,000 known rare diseases, only about 250 have an FDA-approved treatment. Another problem with treating rare diseases is the time it takes for clinical trials to test new medication for safety and effectiveness.

Most of the time, clinical trials consist of less than 100 patients — a small enough sample to skew the data with false results that may not accurately reflect how safe or effective a drug is. As a result, medications used to treat rare diseases often have little research behind them to prove their efficacy and safety.

5. The Most Common Cause of Death for People With Rare Diseases Is Suicide

In 2014, the Centers for Disease Control and Prevention (CDC) released a report revealing that suicides among people with rare diseases had doubled within five years.

This is particularly relevant because suicide was only mentioned 59 times in medical literature from 1985 through 2005; however, since 2008, there has been an exponential increase in studies examining suicide among patients with a rare disease.

This is not to say that people with rare diseases are more likely to commit suicide; rather, it is an indication that the social stigma surrounding these conditions may be taking a toll on those who suffer from them. In fact, many patient advocacy group partnerships have been formed to help raise awareness about the increased risk of depression and anxiety for those fighting a rare disease.

6. There Are 5 Fatal Diseases That Are Considered ‘Rare’

While some people might take solace in the fact that only five deadly diseases are considered “rare,” they need a reminder that there are thousands of other illnesses that can rob someone of their health, happiness, and life — sometimes all at once!

The five rare diseases that are not talked about enough are Creutzfeldt-Jakob Disease (CJD), Batten disease, Niemann-Pick type C, Krabbe disease, and Huntington’s disease. Of the thousands of known diseases, these account for less than 7% of them — but they are responsible for more than 60% of the global mortality rate!

Rare diseases are not so rare after all. In fact, they are quite common, but because they are not as well-known or studied, their prevalence is unknown. The lack of awareness just might be the main reason why people don’t know enough about them and continue to spread misinformation.

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