Epidermolysis bullosa (EB) is a rare genetic disease that many people have never heard of — it’s sometimes referred to as the ‘butterfly skin’ disease, and is a gene mutation resulting in skin that is extremely fragile.

In the UK, it affects one in 17,000 people, but there is still no known cure for EB; no specific treatments, and people with the most severe form can also die early.

Yet, there is hope on the horizon, with clinical trials currently underway and developments in the types of medicines and treatments that will be offered to those struggling with the disease.

Hope also takes the form of incredible role models, such as Lucy Beall-Lott, a 25 year old who is shining a light on the disease, and offering hope and inspiration to patients all over the world dealing with EB.

Lucy graduated from St Andrew’s University in 2021 and refuses to be held back by this rare, debilitating skin condition.

“If I were to fall down, instead of getting a bruise, my skin would come off and it would be a wound resembling a third degree burn,” Lucy explains in ITN Business’ More Than Skin Deep programme, produced in collaboration with the British Skin Foundation. “It’s a pain that surpasses words.”

“The word terminal, like my diagnosis, grew up alongside me, sort of like a shadow. And it’s not a condition that gets better over time; it gets worse.”

Lucy has to bandage up very painful wounds. The constant pain and itch can be a huge mental battle.

Lucy posts images on her Instagram profile to share her experiences of EB and raise awareness.

EB is a group of genetic skin conditions characterised by fragility of the skin, where minor knocks or friction to the skin can cause blistering.

“You can get problems internally as well,” explains Professor Jemma Mellerio, a Consultant Dermatologist at Guy’s and St Thomas’. “So, blistering or scarring of the mouth and the oesophagus, as well as other internal complications — renal disease, cardiac disease, sometimes, and anaemia.”

Professor Jemma Mellerio, a Consultant Dermatologist.

As with all serious diseases, the impact of EB extends beyond the patient, to the whole family and support group.  Fortunately, Lucy has a strong network of family and friends, and the support of her boyfriend. 

Lucy chooses not to hide away but to show her skin, using her Instagram profile to raise awareness, and doing interviews across all different media. She’s also modelled for Vogue Italia.  

 

“One day I got stopped by an older woman… I felt the heat rush to my face, I was ready for the ‘what happened to you’ questions, but instead she said: ‘I think I saw you in a magazine’. It took me a second to recover; I couldn’t believe it. She kept telling me how she’d Googled my condition, and that she’d wanted to know more about it.”

Lucy has modelled for a number of publications including Vogue Italia
Lucy has modelled for a number of publications including Vogue Italia

In an interview with GBN, she said: “Most of all, I just want people to be able to Google EB and have hope. I was born in 1998 and my mum could not Google it and see anything happy, she was just told I was going to die young and live a painful life up until that moment.  I had to become my own role model. Every child deserves to grow up seeing someone who looks like them, doing things that they want to do. So, I hope that the more that we talk about it, the more people can understand that there is hope.”

There are many subtypes of EB; Lucy’s is RDEB — recessive dystrophic epidermolysis bullosa. It’s caused by a lack of the protein collagen 7, the anchoring fibrillation which connects the top layer of skin to the bottom layer. 

“At the moment the treatments that we have for EB are largely supportive; we’re trying to deal with symptoms and wounds to manage a person’s open areas of skin. So, that might be with bandages or painkillers; medicines to try to deal with itch, which is enormously common and a disabling problem in EB,” explains Jemma.

“Although we don’t have anything that alters the trajectory of the disease at the moment, there is hope on the horizon. There’s an awful lot of research going on, and early phase clinical trials that are looking to new modalities for treating EB. Things like gene therapy, cell therapy, and new, novel kinds of drug therapy which offer, for the first time, real hope that we can change the progress and the natural history of the disease for people living with EB.”

Lucy at home with her boyfriend and dog.

Lucy landed an internship at Sotheby’s, and has since embarked on a PhD, studying Medieval English Art.

“The one thing EB could not touch was my mind,” she says. “It couldn’t touch my ability to learn, or to teach others, so I decided to let my education and my ability to learn take me as far as it possibly could[…]. I’ve always wanted to get a doctorate since I was a child and the fact that it’s on the horizon is something I am very grateful for. Being told from a young age that I might not live to see adulthood — and to now be in adulthood and not only that, but to have the ability to earn a PhD — is something I never thought possible.”

Lucy has been sharing her story in many ways to help educate and inspire others. As part of an interview with the founder of ‘Behind the Scars’ (a social media platform which shares photographs of people’s scars and the stories behind them), she said: “My body, which I used to think so little of, carried me here and I am thankful for it. There is much my condition has taken from me, but I have proven to myself that it cannot become me.”

Learn more at the butterfly skin charity, DEBRA UK

EXPLORE MORE: Genetic Alliance UK and ITN Business are launching ‘Rare Conditions: The Stories Behind the Stats’ a news-style programme raising awareness of people affected by rare, genetic, and undiagnosed conditions, launching on Rare Disease Day, 29 February 2024.