A nine-year-old girl is left with wounds similar to third degree burns every time she bumps her skin due to a rare condition.
Phoebe Crowson has had her childhood ‘robbed’ by a form of epidermolysis bullosa – a rare inherited condition known as ‘butterfly skin’.
Her skin is so fragile that a bump, graze or even rubbing from her clothes causes deep lesions under three layers of skin.
The insides of her digestive system even blister if she eats foods that aren’t soft, her mother said. The condition can affect other membranes of the eyes, mouth and oesophagus.
Phoebe, of Peterborough, Cambridgeshire, has never played during her break at school, not only because the risk of injury is too high, but because she needs to have her wounds re-bandaged by school nurses.
Her mother Zoe, 41, has spent four years fundraising for medical research in hope that one day her daughter’s pain will stop. The condition is currently incurable.
Phoebe Crowson, nine was diagnosed with epidermolysis bullosa at birth – a rare inherited condition known as ‘butterfly skin’. Pictured with her mother, Zoe Crowson, 41
Phoebe’s skin is so fragile that a bump or graze rips three layers of skin immediately off which causes wounds that are like third degree burns. Pictured, Phoebe’s back
Minor injuries can cause huge blisters which look like burns (Pictured: Phoebe’s knee)
Mrs Crowson said: ‘It is every parents’ nightmare having a child with EB as she is constantly in pain, even the trauma of eating is too much for her sometimes.
‘I have to give her soft foods like mashed potatoes, but it is like watching your kid eat glass. She has trouble swallowing and her entire digestive tract blisters which includes her bowels.
‘Any dental work in the future won’t be possible for Phoebe as even brushing her teeth causes blisters.’
Epidermolysis bullosa (EB) occurs due to faulty genes, which can be inherited or occur spontaneously. It affects one in 50,000 people worldwide.
Phoebe has recessive dystrophic epidermolysis bullosa (RDEB), one of many forms of the condition. Approximately 20 per cent of people with EB have dystrophic EB, according to charity DEBRA.
The skin of patients is extremely fragile, often with extensive blistering and wounds because there is no collagen in the skin.
The level within the skin layers at which the wounds can occur is so deep that it is equivalent to incredibly painful third degree burns, charities state.
Phoebe has never played during her break at school, not only because the risk of injury is too high, but because she needs to have her wounds re-bandaged often. Pictured, in hospital
Mrs Crowson said the condition is ‘every parents’ worst nightmare’. The skin is extremely fragile because there is no collagen in the skin. Pictured, Phoebe with a wound to her head
Any trauma or friction causes the skin to blister. Phoebe wears silk underwear and socks, but sweat can trigger the blistering
Mrs Crowson said: ‘Her condition has completely robbed her of her childhood’
WHAT IS EPIDERMOLYSIS BULLOSA?
Epidermolysis bullosa (EB) is a general term used to describe a group of rare, inherited disorders that cause the skin to become very fragile.
Any trauma or friction causes patients’ skin to blister.
It affects around one in every 50,000 people worldwide.
Around 40 per cent of sufferers do not survive the first year and most do not live beyond five years old.
The three main types of the disorder include:
- EB simplex – where blistering occurs in the upper layer of skin. This affects 70 per cent of sufferers
- Dystrophic EB – where blistering occurs in the upper layer beneath the skin’s surface, which affects 25 per cent of patients
- Junctional EB – where blistering occurs in the lower layer of the inner skin, which is usually the most severe form of the condition
Most cases are obvious from birth.
EB occurs due to faulty genes, which can be inherited or occur spontaneously.
There is no cure.
Treatment focuses on relieving pain and treating complications, such as infections or skin cancer.
Source: NHS Choices and the National Organization for Rare Disorders
Wounds tend to heal with scarring, which can impair movement, particularly affecting the hands.
The linings of the mouth and the oesophagus are also fragile, meaning eating, swallowing and digesting food can be painful.
Many children and adults are fed through a tube in the stomach to allow adequate nutrition, and Phoebe has undergone six throat stretching surgeries due to scarring.
Mrs Crowson said: ‘Her condition has completely robbed her of her childhood as she has never been able to participate in playtime nor attend parties as it is too much of a risk.
‘Every day is a risk assessment as a bump instantly means three layers of skin removed.
‘When clothed she doesn’t look too bad as it is underneath that is mostly affected from the friction of her clothing rubbing on her skin.’
Phoebe wears derma silk underwear and seamless footwear with special silver socks to reduce damage, but even sweating can trigger blistering.
Mrs Crowson said: ‘Despite the pain, Phoebe conducts herself very well, she has only ever said she wishes she didn’t have EB once.
‘She is unable to do any form of sporting activities but she loves playing with her dolls and on the iPad. She is likely to moan more about the iPad running out of battery as opposed to her skin.
‘Phoebe is a bright girl with a great personality, it is just her skin that lets her down but she’s always very positive.’
Phoebe can’t eat foods that aren’t soft, such as mashed potato, because EB causes her digestive tract to blister. Pictured with Mrs Crowson
Mrs Crowson said she has become an expert in her daughter’s condition because it is so rare – Phoebe inherited the condition from both her parents. Pictured in hospital at an unknown date
In 2015, Mrs Crowson set up a charity called Phoebe Research fund and has raised over £100,000 to try and find a cure for epidermolysis bullosa sufferers.
She said: ‘When you have a child with a rare condition you become the expert, I often get asked by the doctors for my opinion.
‘Phoebe was unfortunate to inherit the condition from both me and her dad, Nicholas Crowson, 45, which is very rare.’
Mrs and Mr Crowson were both oblivious to being carriers as neither of them have the condition.
Mrs Crowson said: ‘In a way it is good as it means not many children are suffering but it doesn’t benefit Phoebe as the Government aren’t funding the research and doctors aren’t familiar with her condition.
‘It is starting to emotionally affect Phoebe as she can’t run around with her friends like any other nine-year-old.
‘It is heart-breaking when I drop her off to school and see the sadness in her eyes when she sees everyone as playing as she walks to the medical room so I can give the nurse a handover.
‘I actually fear for what life Phoebe can expect, still no cure and more research are desperately needed not just for Phoebe but all EB sufferers.’
To read more, visit the charity website.