The theme for this year’s Rare Disease Day is research and comes with the tagline ‘with research, possibilities are limitless’.
Previously left to the highly-educated people who emerge blinking from labs at the end of the day, research is now becoming much more a thing of the people and is increasingly becoming blended with patient care in our minds.
But when we talk about research, what do we mean exactly? For many, the word research conjures up images of the work that happens in labs as scientists struggle to develop treatments and cures for rare diseases. That type of research is essential and exciting and hopeful. However, as patients and patient advocates increase their involvement in research, we also need to keep a very broad perspective on what we mean when we talk about research and to recognise that it also includes such varied initiatives as:
- the development of a patient registry to provide the essential data needed to understand a rare disease.
- the study to take an in-depth look at what an outreach nurse means to people who struggle with the daily blows of a rare disease.
- the development of a clinical guideline to pull the evidence buried deep in scientific papers into the real life of the clinic.
- the priority-setting partnership to understand what questions research can answer for a particular rare disease community.
- The development of a diagnostic tool to reduce the painful waiting time for a family waiting for confirmation.
So this rare disease day let’s celebrate research, and the limitless possibilities it holds, in its full diversity. And even more importantly, let’s ensure that our minds are open to involvement in research, in whatever guise it takes.
Avril Kennan, DEBRA Ireland