Rare Disease Day 2016: How To Get Involved

Illustration of mesothelioma research

Mesothelioma is classified as a rare disease with 3,000 people diagnosed each year. Rare Disease Day, founded by EURORDIS and the Council of National Alliances in 2008, aims to raise awareness about the impact rare diseases have on the lives of patients, and the many issues surrounding topics like research and treatment that often accompany these illnesses.

Nikki, a Wilm’s Tumor survivor, told the Mesothelioma Cancer Alliance that, “One of the biggest challenges […] is that there isn’t a lot of medical research about [rare] cancer[s], which left a lot of lingering questions no one could answer for me […].”

What started as a European event has become a worldwide initiative. The United States joined in 2009 and as of 2015, over 80 countries participate. The day itself takes place on the last day of February each year.

Common Hurdles For Rare Diseases

In Europe, a rare disease is defined as any disease or disorder that affects fewer than 1 in 2,000 people. The United States defines it as a disease or disorder that affects fewer than 200,000 Americans at any given time.

There is a broad diversity of disorders and they often come with common symptoms, meaning patients are frequently misdiagnosed. Mesothelioma, for example, is often misdiagnosed as other, more common forms of lung disease.

As Nikki states, “It’s stressful living with a rare cancer because there is less research, less patient success stories and less concrete answers about your diagnosis — which meant I was getting less confident prognoses from doctors. It felt like I was just living with a big question mark over my head until my surgeon finally told me that I was cancer free.”

Generally speaking, there is a severe lack of knowledge on rare diseases because of a lack of funding for research. This often leads to delays in diagnosis, inequalities and difficulties accessing treatment and care, and heavy social and financial burdens placed on patients.

According to Heidi, a patient of Highly Undifferentiated Endometrial Sarcoma (HUES), “Doctors are often unsure how to proceed with treatment of rare cancers. Different physicians might suggest different treatments, which can have differing outcomes. […] Had I followed the first oncologist’s plan, I probably would have passed away soon after the diagnosis.”

Show Your Support

Despite the many challenges that patients and families of rare diseases face, there has been progress. Since the launch of Rare Disease Day, thousands of events have taken place around the world, reaching hundreds of thousands of people and sparking political advocacy initiatives that have helped advance national public health policies. There has also been continued progress in clinical and scientific research for all rare diseases, leading to the development of new diagnostic procedures and therapies.

However, there is still a lot of work left to do. To aid in the cause for Rare Disease Day 2016, consider showing your support in the following ways:

  1. Share your story. If you or a loved one have been affected by a rare disease, consider sharing your story as a way to spread awareness; seek out patient organizations to find a like-minded community for your own support.
  2. Educate and advocate. Educate yourself on the current issues surrounding rare diseases to better position yourself as an advocate for a particular cause.
  3. Help others discover. One of the issues with rare diseases is that there are usually not enough people to participate in clinical trials. If you’re a clinician or researcher, the National Organization for Rare Disorders (NORD) has a Research Grant Program for academic scientists dedicated to the development of new diagnostics or treatments for rare disease.The more people become aware and educated, the more crucial resources will become available for patients and their families, which according to Heidi, is an invaluable survival tool: “When treatment options are minimal or run dry, relying on one’s self and a care team is important. Having a lot of information about self-care can make one’s life much easier. There is a great deal one can do on one’s own to improve chances of survival.” For those affected by rare diseases, the U.S. National Library of Medicine has a search tool for available clinical trials.
  4. Participate. Find or plan a Rare Disease Day event near you to help build awareness for patients and their families.

Rare Disease Day, in the end, is meant to bring awareness to the individuals behind these diseases. As Richard, a patient diagnosed with the genetic disease Basal Cell Carcinoma Nevus Syndrome fervently states, “The minute that we become nothing but a patient, or the family or friend of a patient, whatever the disease, the disease wins at that moment.”