More Than You Can Imagine: Rare Disease Day

This year’s theme, More Than You Can Imagine, strives to highlight the everyday burden of living with rare diseases, bringing attention to the research, care and effort needed for these patients

Health Care Challenges for Rare Disease Patients

Health care challenges can be exacerbated when living with a rare disease. One of the biggest issues is the time that it takes to receive a diagnosis. In fact, the process is so arduous, it earned itself a name: The Diagnostic Odyssey.

Take cardiac amyloidosis for example. All the signs and symptoms of the condition coincide with symptoms of much more common diseases; it is commonly misdiagnosed as another cardiovascular disease. Patients of this rare disease are also prone to experiencing issues like kidney dysfunction or neurological problems. Since these problems often seem unrelated, they can be pushed aside when making a diagnosis.

Rare neurological diseases, too, have an uphill battle—especially in getting a correct diagnosis. The European Alliance for Patient Access held an event discussing how European Reference Networks can help lessen the burden of the “Diagnostic Odyssey” by raising public and professional awareness of rare diseases and understanding complex illness presentations.

Receiving a diagnosis is only the first part of a patient’s health care journey. In fact, more than 95% of rare diseases don’t have a treatment. And the diseases that do have treatments are often made specifically for each rare condition. For those living with cardiac amyloidosis, it requires a multidisciplinary team to treat the condition. Not only could treatment be costly, but limited access to specialists can be an additional barrier to patient access.

Advocacy Efforts

Rare disease advocates are an important part of making real change for people living with a rare disease. Their efforts of providing educational resources and undertaking social media campaigns are necessary to help enact policy changes.

Rare Disease Day is not just a date on the calendar; it is movement. Working together, advocates can overcome persistent barriers to ensure adequate care and support for rare disease patients across the globe. That may include expanding access to innovative treatments, better coordinating care pathways, facilitating cross-border standards of care and rallying public support and awareness.

The Global Alliance for Patient Access has resources and educational tools to raise awareness on rare diseases around the world.