Patients and parents are helping progress research

 

There has been great progress in rare disease research, in big part thanks to the advocacy work of the rare disease patient community. Patients are already participating in research. And in some cases patients have taken the reins themselves to fund their own research.

However, the fact remains that there are over 6,000 rare diseases, an estimated 30 million people living with a rare disease in Europe and 300 million worldwide, but no cures and few treatments available for the majority of these diseases.

To help change this, patient involvement in research needs to be taken to the next level.

The theme for Rare Disease Day 2018 is research

Rare Disease Day 2018 offers participants the opportunity to be part of a global call on policy makers, researchers, companies and healthcare professionals to increasingly and more effectively involve patients in rare disease research.

Sandra Courbier works for  EURORDIS-Rare Diseases Europe, an alliance of over 700 patient organisations representing 30 million people affected by rare disease.

 

Living with an inaccurate diagnosis

 

Around 40 per cent of rare disease patients have received an inaccurate diagnosis, resulting in them seeing the wrong doctors and receiving the wrong treatments,” she says. “More research will result in improved diagnosis at an earlier stage for more patients.”

EURORDIS runs the Rare Barometer survey programme that brings together over 7,000 people affected by rare diseases from around the world to share their opinions on the issues that matter most to rare disease patients.

 

A push to get more patients to participate in research

 

The most recent Rare Barometer survey focused on research and rare disease patients’ participation in research. She cites data collected via these surveys, which help to put facts and figures on the reality of living with a rare disease.

“Our recent study found that 1/3 of rare disease patients have participated in research, which suggests that there is not enough research to cover the unmet medical needs of rare disease patients. The survey results also show that a lack of public funding as the main obstacle to rare disease research.”