Access to Care Shouldn’t be Rare

That’s why, every year on February 28, the rare disease community comes together to recognize Rare Disease Day. The annual observance helps to raise awareness about the more than 6,000 identified rare diseases and the 5% of the worldwide population that are impacted by them. Since its inception in 2008, Rare Disease Day continues to grow, with more than 600 events taking place across 106 countries. 

Challenges for Rare Disease Patients 

Diseases are considered rare if they affect fewer than one in 2,000 people. Although there are more than 6,000 identified rare diseases, many people in the rare disease community face similar challenges. 

• Lack of Scientific Knowledge and Awareness. With the ever-increasing number of identified rare diseases, it is often difficult for the general public – and even members of the medical community – to remain up to date and aware of all existing rare diseases. For example, patients with NMOSD, a rare autoimmune condition of the central nervous system, often seek care at emergency rooms at the onset of symptoms. Many of the signs and symptoms, however, will go unrecognized by clinicians at these centers.  

• Need for Expanded Research. Just as Rare Disease Day is a global observance, the rare disease research process requires researchers and clinicians from all parts of the globe to work in concert. Research on rare diseases, wherever it happens, can help to expand the body of rare disease knowledge for all, improving opportunities for diagnosis and treatment. 

• Lengthy Diagnostic Journey. Due to the broad diversity of rare disorders, as well as the often-common symptoms that may be signs of a rare disease, many patients experience misdiagnosis and lengthy journeys to reaching an accurate diagnosis. In addition to being frustrating for patients and their families, delays to accurate diagnosis can affect patient outcomes.  For example, for patients with hATTR amyloidosis, a rare hereditary degenerative disease, time is of the essence. Delays in diagnosis mean a delay in initiating treatment that could be life changing.  

• Inconsistent Access to Innovative Treatments. The rare nature of these diseases often means that there are few treatment options that exist for each disease, and those that do exist are often expensive or inaccessible for patients. Policies that promote access to innovative treatments for rare disease patients can help increase the chance of better patient outcomes.

Rare Disease Day is an important opportunity to remind people across the globe who are impacted by rare diseases that they are not alone. Learn more about Rare Disease Day and how to get involved, at RareDiseaseDay.org.