Emma Fogarty, who lives with the rare disease EB, challenges our notions on what it means to be rare, on Rare Disease Day

Emma Fogarty Patient Ambassador

What do you think of when you hear the word ‘Rare’? Perhaps you think of something precious, original and unique?

Well for me, the connotations are not so positive. I live with something very rare every day  – a rare disease. And I can promise you there is nothing precious about what I live with and I have to fight every minute of every day to survive it.

I have a rare skin condition called EB (epidermolysis bullosa). My skin is as fragile as the wings of a butterfly and can tear at the slightest touch. My condition however, is just one of approximately 6,000 rare diseases currently known and, like mine, most of these are genetic. Astoundingly, the number of people affected by rare diseases in Ireland is the equivalent to the populations of Cork and Galway combined. The irony is that it isn’t rare to have a rare disease. Despite the differences between the various rare diseases, those who live with them experience many challenges in common. They can often wait far too long for a diagnosis, struggle to find medical experts who understand their condition and are often left without the social supports they desperately need.

Rare Disease Day, held every year on the 28th of February aims to raise awareness of these issues and bring about improvements for those of us unlucky enough to be rare.

While I am lucky that there is good support and care for people living with EB in Ireland, the issue that is closest to my heart is research. There are currently no treatments or cures for EB. Many believe that we should prioritise medical research into diseases that are common. Research into rare diseases therefore lags behind. We are far slower to understand the biological problems that cause rare diseases and far slower to develop therapies for them.

I suppose it is understandable. It is human nature to try and save the most people possible. Also, pharmaceutical companies, the drivers of much medical research, have always dreamed of the blockbuster drugs – the ones that reap massive profits, based on the sheer numbers of patients in need of them. But what does that mean for people deemed to be less ‘profitable’? While the pharmaceutical companies dream of their blockbusters, I dream of a cure for EB. I always have, even from a young age. Even some small treatment or slight relief would bring me the most indescribable joy.

Despite the current lack of treatments however, there is a small glimmer of hope. That hope comes from the patient organisation DEBRA Ireland. DEBRA Ireland is involved in research across the world and two weeks ago I got to visit the lab of Dr Wenxin Wang in UCD. Dr Wang was appointed to an EB research position 5 years ago by DEBRA Ireland and National University of Ireland, Galway. He is a biomaterials scientist and has spent the last five years working on improving wound healing in EB. In those five years he has built his team into a large research group and brought in considerable money to expand his research. Just a couple of months ago he moved his entire group to the Charles Institute in UCD, where I got to visit him. This Institute is a new research facility which will focus specifically on research into skin conditions – one of only two such dermatology research institutes in the world.

I hope that the research by Dr. Wang and others around the world will soon translate into something my doctor can prescribe me. In the meantime however, I can’t help but wish I was common.