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Gemma's Story

Gemma's Story

28-year-old Gemma is going places – she has a degree in Psychology, recently got married, and is making plans to work on an acute mental health ward in future.

It’s not been easy to get this far.

At first glance, you may not realise that Gemma has Epidermolysis Bullosa (EB), or butterfly skin, a potentially fatal skin blistering condition that causes lifelong disability. Gemma’s EB also causes Muscular Dystrophy.

EB presents a real and permanent threat to Gemma’s life.

“I was born with a narrowed airway, complicated by my EB. When I was 13, my throat closed up and I couldn’t breathe. Doctors had to perform an emergency tracheotomy to stop me from suffocating,” says Gemma.

“After the surgery, I fell unconscious at home and was rushed to our local hospital in an ambulance, blue lights flashing. All I remember is being frightened, going in and out of consciousness and saying my goodbyes to my parents. I was in an induced coma for a few days. I finally woke up in intensive care, in Great Ormond Street Hospital. I had no voice and couldn’t move my neck to sit up. I had two more emergency tracheotomies in the following two years. Each procedure has been an incredibly frightening experience, where there was no certainty of outcome – ever since then I have battled with anxiety, low mood and post-traumatic stress disorder.”

The condition has a huge impact on Gemma’s mental health.

“I was forced to confront my own mortality at a very young age – a lot of my anxiety comes from not having any control over my condition and having a fear of what will happen to me. 

“Unfortunately there is nothing that can be done to rectify my narrowed airway because of my EB,” she says.

 And affects every aspect of her daily routine.

“My EB causes Muscular Dystrophy, weakness in the skeletal muscles, difficulty speaking, a hoarse voice, wounds which have to be dressed daily and an ocular surface disease. I also have a secondary blistering condition called Bullous Pemphigoid, which has to be controlled with high doses of steroids.

“The state of my skin, particularly on my hands and feet, affects the distance I’m able to walk without being in pain and what I can do from day to day.

“You might see me walking some of the time, but I’ll often use a wheelchair to get around town. I pick my shoes carefully too. Wearing the right shoes means I’m able to walk just that little bit further in comfort – Sketchers are a blessing.

“It’s the muscular weakness that I find most difficult to live with every day. I can no longer do my own hair, or lift anything weighing more than a bag of sugar, without great difficulty or my arms collapsing completely. This causes a lot of frustration, and often embarrassment. The majority of people are very helpful though, and regularly offer to carry my shopping bags out to my car.

“I use a dog walking service for my dog as I can get tired very quickly. When my hands, feet or eyes are bad I can’t drive and opening bottles, tins or cans is almost impossible – I have a host of gadgets in my kitchen to get around this.”

There is currently no cure for EB – Gemma’s symptoms have to be managed. 

“The specialist EB Team at St Thomas’s Hospital, which DEBRA helps to fund, advises me on my EB care – I typically attend clinic there every four to six months and see my consultant, a physiotherapist and dietician.

If the EB team weren’t there, it would certainly have a negative impact on my life. When I’ve been rushed into hospital because of my breathing, they’ve stepped in to advise doctors and make sure I get the most appropriate care, so that I, personally, have nothing to worry about other than getting better.

The new Rare Diseases Centre, which DEBRA part funded, has also made a huge difference! It makes going to hospital less daunting, offers a sense of being at home, and gives you the opportunity to interact with others who have EB, rather than spending the whole day isolated in individual rooms.”

 Gemma doesn’t let EB stop her achieving her ambitions.

“I attended mainstream school, and later, college, without any problems. DEBRA supplied me with my first computer when I started school, they provided my family and I with respite breaks away in the DEBRA holiday homes and they’ve given us information and support whenever we’ve needed it. In September 2016, I completed a Bachelors of Science with Honours in Psychology from The Open University. In 2018 I married Mike Jaega, Chair of DEBRA UK’s Board of Trustees and President of DEBRA International (we first met at the EB clinic).”

She refuses to give up. 

“For the last two years, I’ve been working on DEBRA International’s Psychosocial Clinical Practice Guidelines, alongside a team of psychologists who specialise in EB. I’m thoroughly enjoying the process, and learning a lot from it. When they’re finished, my name will be on them as a credited author.

“They will give medical professionals worldwide a more consistent understanding of what EB is, how it can affect the whole body, the impact it has on people and their families and the importance of doing things to improve quality of life here and now – from creams and dressings to social and emotional support.

“Finding other working opportunities has been challenging as my physical health means I am deemed to be extremely high-risk in a workplace. What I’d really love to do is work part-time on an acute ward helping adult mental health patients. I’m not giving up any time soon – I know I’ll get where I want to be eventually!”

Please give now to help Gemma #FightEB – your gift could provide life changing care and support and fund research into effective treatments and, ultimately, a cure for EB.

 

Gemma's Appeal

Gemma's Appeal

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