Casey Connors (7) was born with recessive dystrophic EB. The worst form of EB you can live with. Mum Rachel spoke to the Irish Independent about how Casey copes with EB now that she has started school.
Many children are born with skin conditions such as cradle cap, newborn acne and eczema — but only one in 18,000 babies are born with epidermolysis bullosa (EB), a severe genetic skin-blistering condition.
Hopeful news emerged this week when a team of gene therapy researchers from UCD made a breakthrough in the search for a cure. They produced a solution which uses gene therapy to transform ‘bad cells’ into cells which are fully functioning.
This news is very welcome for Rachel Connors from Clondalkin, who knows only too well the toll EB can take — her young daughter Casey (7) has been living with it since she was born.
“My pregnancy with Casey was no different from when I was pregnant with my son Jayden (9),” says the mother of two. “There were no problems at all and we only noticed something was wrong when she was born and there was no skin on her arms or legs.
“She was put into an incubator straight away and I remember being a bit worried, but really thought that it would be something which would clear up.
“I had to stay in the Coombe but Casey was referred to Crumlin Hospital a few hours after she was born. Her dad and my mam went with her, but they weren’t told anything as I had to be present for the diagnosis. So the next day, I was let over to Crumlin for a couple of hours so the doctor could tell me what it was.
“I had never heard of EB before and I remember thinking that it would all be okay in the end and that it would definitely get better as she got older — but it didn’t.”
Instead of taking her new baby home, Rachel spent the next three weeks learning how to care for her little girl because every single touch had the potential to cause pain and injury.
“I had to learn how to care for Casey, which was so different to when I had Jayden,” she says.
“She couldn’t be picked up normally. Instead, she had to have a cotton sheet under her and her whole body had to be picked up in one go, as otherwise she could get blistered.
“I had to learn how to feed her, which took a long time as she got blisters (and still does) in her mouth.
“I also had to be shown how to change and bathe her and how to put on her bandages as she had to be covered from head to toe.
“I was living with my mam at the time, so she and Casey’s dad helped me when I came out of the hospital.
“But it was very difficult as we had to have a set routine and everything took a very long time, with most of the day spent putting on creams and bandages.
“She also was in and out of hospital a lot as she got so many infections — it was a very difficult time, but my mam and Casey’s dad were a great help and so was DEBRA Ireland [the national charity helping patients living with EB], who offered so much support and put me in touch with other people who knew what we were going through.”
Casey started mainstream school three years ago, and while she adapted well initially, she has been finding things difficult this year.
“We enrolled Casey into a preschool for children with special needs, which was a great experience and really brought her out of her shell,” says Rachel.
“Then, for the past three years, she has been in mainstream school and this was also good for the first two years. But she has been struggling this year as children with EB often find it much harder to socialise and make friends, and while Casey had a really good friend in her first two years, they are now in separate classes so she is finding that hard to deal with.
“Luckily, Jayden makes a point of coming to see her and checking that she is okay — he’s a really good big brother.
“But she can’t run around or play with the other children and also has to stay out of PE and sports day.
“And because she finds it difficult to eat, she won’t have her own lunch until the others have gone outside as she doesn’t want them to see how slow she is.
“Of course, the teachers and special needs assistants are great and will change her bandages if she has any issues. But she prefers to do all that before and after school as she wants to be as normal as possible.”
And while being at school has many challenges for Casey, she also has to overcome hurdles in other areas of her life.
“Casey tries to get on with things as best as possible and it amazes me how she just accepts everything and does what has to be done,” says Rachel.
“But sometimes it can be overwhelming — for example, if she writes for too long, her (bandaged) hands will blister, and last week, they bled on her homework and she was so upset as she didn’t want to give in her work with blood on it. But at the same time, she just couldn’t do it again as her hands were too sore.
“When she was little, my mam would help me with the bandages, which go from her neck all the way down to her toes, but now we need three of us — so there is me, my mam and a nurse, and it can take up to three hours for bath and bandages three times a week.
“On a daily basis, she is peg-fed and then has some bandages changed every morning before school, so it’s a constant issue for her.
“She can’t just get up, have her breakfast, get dressed and head out to school like other children — it’s very hard on her.”
Although the skin is the most visible organ impacted, many sufferers with EB can also be affected in their internal linings (mouth, oesophagus and intestines), as well as their teeth, nails and eyes. And in some severe forms, the fingers and toes can fuse to give a ‘mitten-like’ appearance.
This week (October 21-27) is National EB Awareness Week, which coincides with the breakthrough by Irish researchers. Professor Wenxin Wang and his team have been carrying out research into EB at UCD for the past 10 years with assistance from Debra Ireland.
Rachel said: “I’ve just heard about the breakthrough in UCD and it is really exciting as it offers hope for Casey and others like her who suffer daily with EB.”
Debra Ireland would like to raise more awareness and funds so that research can progress and they can continue to help those suffering with this debilitating condition.
“Nobody really knows anything about EB,” says Rachel, “and while Casey has it all over her body, if for example, her face is clear one day, people will assume that it has all gone, but this is never the case.”
“It is a very difficult condition for someone to have, but my advice to anyone who is new to EB is to stay strong and try not to worry as the first few years are the hardest.
“I would encourage people to get in touch with Debra Ireland and make contact with other families who are affected, as this is a great support network.”
The proud mum continued: “EB is hard, there is no doubt about that, but when I look at Casey and see how she is growing and is happily getting on with her life, all the struggle is worth it.
“I truly believe there will be light at the end of the tunnel.”
Story by Arlene Harris
To support families like Rachel and Casey, please Text BUTTERFLY to 50300 to donate €4 to DEBRA Ireland or donate here
(Text costs €4. DEBRA rec min €3.60. Service provider: Like Charity. Helpline 0766805278)