I didn’t realise how important it would be to talk to someone else who understood exactly what it's like to live with Epidermolysis Bullosa.
Heather has always known that she has a genetic condition called Epidermolysis Bullosa (EB).
EB is also known as ‘butterfly skin’ because it causes skin to be as fragile as a butterfly’s wings. Symptoms vary, but for Heather minimal trauma, externally and internally, causes her skin or internal membranes to blister or tear. Healing causes itching, wounds leave permanent scarring and damaged nails don’t regrow properly.
It’s a rare condition so many medical professionals won’t have seen anyone with EB.
Heather inherited it from her mother.
“As fellow sufferers, my mother and I understood each other’s unique fragility. It gave us a close bond.” Heather tells us.
From her mother, Heather learnt to bathe and dress her wounds and how to deal with people’s reactions to the visible signs of EB. Until recently, she hadn’t met anyone else with EB.
“Early childhood was probably the most difficult. I couldn’t join in the rough and tumble of the playground and was self-conscious of my dressings and noticeable scarring. People often reacted to me in a negative way. That gave me a sense of being on the outside, expecting not to be liked. Life was for others, not me.”
Heather didn’t want EB to define her.
Many of her friends and colleagues don’t know about her diagnosis and she has always managed her condition herself. It was only this year that Heather, now in her seventies, started talking more openly about her condition.
“Except for one specialist in childhood, I’d never met a doctor who properly understood EB until discovering the charity DEBRA. It was amazing to find this wonderful support network and doing so somehow encouraged me to be more open about my condition. It’s very reassuring to know that expert support is available if needed but more than anything I hope that sharing my experience might help other people.”
DEBRA is the only charity in the UK which supports people with EB and funds research into treatment.
Thanks to DEBRA, Heather is now registered with the national centre of excellence for EB patients at St Thomas’ Hospital in London, has an annual appointment with an expert clinician there and through their genetic testing finally knows which genetic change causes her condition.
Heather made a personal breakthrough last year when she was encouraged to join a DEBRA charity event where she met other people with live with EB for the very first time.
“It took some courage to go but I’m so glad I did. I had my first ever conversation with another EB sufferer, someone else who understood exactly what it’s like to live with EB. It was a deeply emotional moment for both of us, and in some way immensely life-affirming.”
Looking to the future, Heather is keen to help promote a better understanding of EB and its physical and psychological impact on those with EB and their families.
“My message to healthcare professionals is ‘Listen to your patient.’
“EB sufferers probably know their condition better than you. Hopefully, continuing to learn more about EB and listening to each other will lead to new developments and discoveries and a better understanding between all those affected by, and concerned about, EB.”