Meet the heroic children with Epidermolysis Bullosa described as 'the worst thing you could live with'

Four-year-old Casey Connors from Clondalkin has a severe form of the butterfly skin disease EB (epidermolysis bullosa).

Ailín Quinlan meets the brave children with Epidermolysis Bullosa – an incurable and extremely painful skin condition that a medical expert describes as “the worst thing you could live with”

LITTLE Casey Connors lives a nightmare. Just four years old, she’s covered from the neck down in open wounds, and bandaged from head to toe.

She is unable to cycle a bike or run and play like other children her age, because if she fell, or if someone bumped into her, her skin could tear, causing more wounds.

Alternatively pieces of her skin could shred and fall off.

Sometimes when her bandages are being changed — which happens every second day and takes hours — the dressings stick and pieces of Casey’s skin come away.

In constant pain as the result of the horrific disease she has endured from birth, little Casey takes three painkillers a day and is transported from place to place in a buggy.

Some days she and children like her can wake up to sheets covered in blood because, tormented by an extreme itch, they have scratched their skin through the bandages all night.

Casey can only eat soft or blended food because her throat is covered in blisters. She cannot go with her family on a sun holiday because strong sunlight causes blisters to form inside her eyeballs. Her fingers and toes are starting to fuse.

And that’s not all — there’s no cure for the disease, and children who survive it face the frightening reality that they could develop a very aggressive form of skin cancer. Casey’s life is so cruel that her six-year-old brother Jayden recently asked their mother Rachel: “Why did God make Casey this way?”

Casey has a form of Epidermolysis Bullosa, a severe, rare genetic skin-blistering condition, for which there is no cure, and which was once described by a medical expert as “the worst thing you can live with”.

Casey has Recessive Dystrophic EB, which is also characterised by a contraction of the joints, resulting in a fusion of the fingers and toes. According to Debra Ireland, the group which supports families struggling to deal with the condition, EB is “the worst disease you’ve never heard of”.

Casey would probably agree — she recently inquired whether her ‘special skin’ would get better as she became older, but her 26-year-old mother could not bring herself to answer, she says. That’s because the answer is never. In playschool, Casey is accompanied at all times by a special Needs Assistant to ensure that she doesn’t fall or bump into other children.

Every second day, she undergoes the often-excruciating ordeal of having her dressings changed — first she has to soak in a bath to soften the bandages before they are gently removed.

Bandage-changing is carried out at the family’s Clondalkin home by her mother and her grandmother Eileen, who must also ensure that Casey’s fresh bandages are carefully cut so that they are perfectly shaped to her tiny body. Otherwise they will damage her ultra-fragile skin — so fragile that the skin of children with EB is also called ‘butterfly skin’.

When we’re doing the bandages it takes two to three hours,” says Granny Eileen. “You have to cut the bandages to size — they cannot be too small or too big because if they don’t fit properly they’ll take her skin off.”

Bedtime is no childhood sanctuary for little Casey: “She can feel very itchy. Sometimes the itch medicine doesn’t work well and Casey will scratch through her bandages and cause more wounds,” says Rachel.

Judith Gilsenan of Debra Ireland puts is succinctly: “When severe itching can kick in at night and the child scratches through the bandages, in the morning you can wake up to blood-soaked sheets.”

“It’s very hard on Rachel sometimes and when Casey gets bigger it will be more difficult,” says Eileen. “Already her toes are starting to join together. The skin tightens as they get bigger. It happens to their hands as well.”

Because it’s a genetic condition, EB is not contagious. An estimated one in every 18,000 babies in Ireland are affected by EB, which causes a breakdown in the natural proteins that hold the skin together. The slightest touch can cause severe pain, blistering and sores.

It’s estimated that about 300 people here have some form of the disease, which is said to affect more than 500,000 people worldwide.

For children with the condition, all normal childhood activities — bedtime, bath-time, birthday parties, even walking in the school playground, are all either hugely problematic or impossible.

“EB is the master, and it is a vicious monster of a master,” says Gilsenan matter-of-factly.

“The only part of the body that EB does not affect is the brain. There is nothing it does not attack,” she says, adding that at the moment, the only treatments for the condition are wound care and pain management.

Liz Scanlon’s 12-year-old daughter Claudia has the same condition as Casey.

[timgcap=Claudia Scanlon (12) from Terenure, who suffers from skin disease EB, with her mum Liz. Picture: Jason Clarke Photography]zzzEpidermolysisBullosa201016a_large.jpg[/timgap]

Scanlon (48) explains that like Casey, Claudia, who must now be peg-fed, was born with no collagen layer in her skin.

“The collagen is like adhesive sticking the dermis and epidermis layers of skin,” Liz explains.

This means that she is affected internally and externally — after all, the skin is the biggest organ in the body so everything from her ability to swallow to her ability to go to the loo is affected.

“She has open wounds all over her body. Her nutrition is very poor. The skin on her throat blisters which causes narrowing of the throat and makes swallowing difficult,” says Liz. As a result Claudia must be peg-fed (Percutaneous Endoscopic Gastrostomy — a PEG tube is passed into a patient’s stomach through the abdominal wall).

“She has wounds over 80% of her body that are similar to third degree burns and her hands have contracted. Her fingers and toes have fused so that her hands are like mittens and her feet are like stumps.

“On Mondays, Wednesdays and Fridays Claudia, who is now in first year of secondary school and on three strong painkillers a day, must step into a bath of warm water, Milton and salt — to ensure no infection takes place — and go through the ordeal of having her bandages changed.

Bandage cutting is like a military operation, says Liz, because, just as with Casey, the bandages must fit Claudia’s body perfectly or they will cause more tearing.

Like Casey, Claudia has heart-breaking questions about her future. She has asked her mother whether she will ever have a boyfriend. She is aware that her puberty has been delayed because of her unavoidably poor nutrition.

Her devoted parents make the most of what they can do for her — birthdays, for example, are very special occasions. The family also moved into a bungalow in Terenure five years ago so as to be able to facilitate Claudia’s need of a wheelchair.

“She just wants to be treated the same as everyone else and accepted as who she is,” says Liz.

“She is wonderful. She is amazing.”

For more information on EB: visit https://debraireland.org/
Phone: 01-412-6924
Email : info@debraireland.org

October 24-29 is National EB Awareness Week and the public is asked to show their support for EB patients by picking up a Debra Ireland butterfly tattoo at any Applegreen and texting BUTTERFLY to 50300 to make a €4 donation.


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