Butterfly skin effect: Highlighting the need for EB research

5 Jul 2017

Emma Fogarty, patient ambassador for Debra Ireland. Image: Debra Ireland

Ahead of Inspirefest 2017, Claire O’Connell heard from EB patient ambassador Emma Fogarty and scientist Dr Lara Cutlar about a rare and difficult skin condition.

When Emma Fogarty was born, it was immediately apparent that something was up. She had no skin on her left foot, nor on her right arm. A short time later, her parents were told that their first child had a condition called epidermolysis bullosa, or EB. 

Rare genetic condition

Sometimes known as ‘butterfly skin’ disease, the severe, rare genetic condition affects the integrity of the skin, which blisters and wounds easily. 

A simple touch or mild friction of clothing can damage the skin, causing pain and putting the person at constant risk of infection. Bandages and dressings can stick to the skin and cause it to shear away, too.  

“When I was born, my parents were told I wouldn’t live a week,” said Fogarty. “What a shocking thing for them to hear.”

But she did live, staying three months in hospital before her parents brought her home. Now, she and her family have adapted to leading a life with EB.

It hasn’t been an easy journey, but Fogarty went to primary and secondary school, she sat her Leaving Cert, and moved out of home to attend college. She moved to Dublin and worked in a bank and, achieving a long-held dream, the former Nissan Generation Next ambassador also passed her driving test first time round.

Inspiring outlook

Fogarty describes life with EB as “very difficult” but she believes in a positive frame of mind. “One of my outlooks in life is that you can sit in the corner and dwell on things, or you can live the life you have been given,” she said.

“You will have obstacles in the way – EB is a really hard life – but if you are determined, you can do it. And my parents would always encourage me to try things, to give them a go.”

Now aged 33, Fogarty is a patient ambassador for the charity Debra Ireland, which supports people with EB and research into the condition, and is also the charity partner for Inspirefest 2017.

Fogarty visits schools, she has spoken to medical students, she blogs, and tomorrow (6 July), she will take to the Inspirefest stage, along with Debra Ireland family patient ambassador Liz Collins, to raise awareness of the rare skin condition that affects one in 18,000 people born each year in Ireland.

“We need to raise awareness about EB so people can understand more about it, including that it is not contagious,” said Fogarty. “And it makes a huge difference to meet someone with the condition. Once you see it, you don’t forget it, you want to help.”

One of her favourite roles as a patient ambassador is to meet younger people with EB and their families. “I love that I can support them and give the family some kind of hope,” she said. “Because, even now [if you are born with EB], you are not given the best outlook, but then maybe a parent sees me driving to an event and they think their child may be able to do that.”

EB needs research

Fogarty is a keen advocate for research into EB, and she urges everyone to support Debra Ireland in enabling that research. “I think every patient and family, everyone who has a part to play in EB, dreams of a cure or a new treatment or a new painkiller or new bandage, and research is hugely important,” she said.

“Debra Ireland is such a small charity, and we need to raise awareness about what they are doing and to help them.”

One of the research projects that Debra Ireland supports is a bid to develop a new kind of topical treatment for recessive dystrophic EB (RDEB, the type that Fogarty has).

In RDEB, the skin lacks a protein called collagen VII, which usually anchors skin tissues in place. Without this protein to keep the layers stuck on, the skin can blister easily.

Dr Lara Cutlar has been working towards a new treatment for RDEB, a gel that can enable the skin to make more collagen VII and anchor skin layers, protecting them from physical damage.


Dr Lara Cutlar raising funds for Debra Ireland. Image: Lara Cutlar

Collagen boost

Cutlar started working on the project funded by Science Foundation Ireland and Debra Ireland as a PhD student and now, she is a postdoctoral researcher with Prof Wenxin Wang at the Charles Institute for Dermatology at University College Dublin (UCD).

“We are looking to deliver a functional collagen gene into the skin,” explained Cutlar. “We are doing that using a highly branched polymer material that grabs onto the gene and brings it passively inside cells in the skin. Then, when the gene is inside the cells, the cells can now make the collagen VII.”

So far, lab and pre-clinical tests of the technology have shown promise, and Cutlar hopes that the work will move to clinical trials in the future. “Ultimately, we want this to be a treatment that can be injected into the skin or simply applied topically as a gel to boost collagen VII production,” she said.

Fogarty keeps a keen eye on the research. “What Lara and the lab in UCD are doing is very exciting,” she said. “And Lara is completely dedicated to Debra Ireland and EB – I don’t think she will stop until she finds a cure.”

In March 2018, Inspirefest founder and Silicon Republic CEO Ann O’Dea will journey to the Arctic, enduring extreme conditions in a bid to raise awareness for those living with EB. To find out more, or make a donation, click here.

Emma Fogarty and Liz Collins will be speaking at Inspirefest, Silicon Republic’s international event connecting sci-tech professionals passionate about the future of STEM. Book now to join us from 6 to 8 July in Dublin, and visit the Debra Ireland stand to get a butterfly tattoo and show your support for the charity’s work.

Dr Claire O’Connell is a scientist-turned-writer with a PhD in cell biology and a master’s in science communication