Emma Fogarty on living with EB
On Rare Disease Day, Emma Fogarty talks about living with the rare skin condition EB (epidermolysis bullosa)…
What do you think of when you hear the word “rare”? Perhaps you think of something precious, original and unique?
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. But my condition is just one of around 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 these diseases, those who live with them share many challenges. 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.
While I am lucky 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. And research into rare diseases lags far behind that for more common medical conditions. We are far slower to understand the biological problems that cause rare diseases and far slower to develop therapies for them.
I suppose it’s human nature to try and save the most people possible. Also, the principal drivers of much medical research, the pharmaceutical companies, have always dreamed of the “blockbuster” drugs – the ones that reap massive profits because of the sheer numbers of patients in need of them.
But what does that mean for those deemed less “profitable”? While the pharmaceutical companies dream of their blockbusters, I’ve always dreamed of a cure for EB. Even some small treatment or slight relief would bring me the most indescribable joy.
But the patient organisation DEBRA Ireland, which is involved in research across the world, does provide a small glimmer of hope. Two weeks ago I got to visit the lab of Dr Wenxin Wang in UCD.
A biomaterials scientist, Dr Wang has spent the last five years working on improving wound healing in EB, building his team into a large research group and bringing in substantial research funding. Now based in the Charles Institute in UCD, it 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 will soon translate into something my doctor can prescribe to me. In the meantime, however, I can’t help but wish I was common.
You can contact DEBRA on 01 412 6924 or visit www.debraireland.org.