From Treatment to Misdiagnosis: Rare Diseases in the Present Day

The historically low awareness and research associated with rare diseases is largely a result of the small amount of people affected worldwide, but rare diseases aren’t “rare” if considered cumulatively. Due to the overall lack of knowledge surrounding these conditions, many do not receive the proper funding necessary to advance research, and many more present fatal outcomes to patients. In fact, it’s estimated that as little as 500 of the 7,000 rare diseases have treatment options today. In honor of Rare Disease Day 2019, it’s important to start a conversation surrounding rare diseases, the people they affect and why it is so important to be aware.

In the United States, a disease is classified as rare, or “orphan,” if it affects fewer than 200,000 Americans per year and the statistics surrounding rare diseases are overwhelming.

• 50 percent of rare disease patients are children.
• Many rare cancers are subtypes of more common cancers.
• Between 2011 and 2012, rare disease research received less than 10 percent of research funding from Cancer Research UK.

Unfortunately, receiving a rare disease diagnosis often comes late stage, as many mask themselves as other, more common illnesses. Mesothelioma, for example, is a rare cancer with roughly 3,000 new cases each year, but is often misdiagnosed in the earlier stages. Its symptoms (including shortness of breath and chest pain) mimic those of more familiar ailments, such as the common cold, asthma or pneumonia. The existence of these symptoms often leads to the cancer failing to be properly diagnosed until stage 4, which drastically worsens patients’ prognoses.

According to a survey of 6,000 people with various rare diseases, it took between five and 30 years for 25 percent of surveyed patients to be properly diagnosed. Gallbladder cancer has also proven a challenge to oncologists because patients are typically asymptomatic, which often leads to either misdiagnosis or diagnosis in a late stage. Similar to mesothelioma, one reason misdiagnosis occurs is as a result of doctor’s not looking beyond precursor diseases, such as cholecystolithiasis or cholecystitis, dismissing the possibility of a rarer illness. Currently, only 24% of patients fortunate enough to be diagnosed in the early stages have received clinical treatment, making early detection absolutely necessary for those unknowingly suffering from the rare disease.

Although each rare disease is unique, it’s important to be aware of any abnormal somatic symptoms that continue to present themselves in the body. In order to reduce the rate of misdiagnosis, keeping up with doctor’s appointments and explaining any unusual health effects to a medical professional can make all the difference.

With Rare Disease Day coming up on February 28, there are several ways the public can get involved, including, but not limited to:

• Using the hashtag #ShowYourRare on social media platforms to spread the word
• Creating and Posting an Event - https://www.rarediseaseday.org/send-us-your-event

Donating to Rare Disease Day - https://donation.rarediseaseday.org/