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‘Butterfly disease’ sufferer refuses life-saving treatment


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A teenager who suffers from a life-threatening condition known as ‘butterfly disease’, is refusing medication because he is afraid of dying during the treatment.

Jonathan Gionfriddo, 17, from Stafford Springs, Massachusetts, endures agonising  pain every day due to epidermolysis bullosa (EB), which causes his skin to fall apart from within. 

Jon, who is not expected to live past 30, said: ‘Its torture, mentally and physically. I’m fragile on the outside because of the skin disorder, but on the inside I’m just as weak.’

Doctors are urging Jon, who has to spend four hours a night bathing and bandaging his delicate skin, to undergo a new treatment that has drastically improved the condition of a fellow EB sufferer, who had one of the worst cases medics had ever seen.

Yet, the teenager is refusing any risky treatment after a routine operation left him fighting for his life.

In tonight’s ‘The Boys With No Skin: Extraordinary People’ on Channel 5 at 10pm, Jon meets fellow EB sufferer Charlie, who drastically recovered after having the revolutionary treatment.

EB affects around one in every 50,000 people worldwide. 

Jonathan Gionfriddo, who suffers from a life-threatening condition known as ‘butterfly disease’, is refusing medication because he is afraid of dying during the treatment

Jon endures agonising pain due to epidermolysis bullosa, which causes his skin to fall apart

Jon endures agonising pain due to epidermolysis bullosa, which causes his skin to fall apart

He is refusing any risky treatment after a routine operation left him fighting for his life

He is refusing any risky treatment after a routine operation left him fighting for his life

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 

‘It’s not worth the risk’

Describing the routine operation, Jon said: ‘They couldn’t get the breathing tube down my throat and my lung collapsed. So they tried to get me up and my other lung starts to collapse.

‘I almost died, I had a near-death experience.

‘If the treatment wasn’t life-threatening then yes I would definitely do it, but it’s just not worth the risk.’

In an episode of Extraordinary People, Jon meets with 11-year-old Charlie Knuth, from Minneapolis, who was also born with a severe form of EB.

Charlie, who was abandoned at birth due to his disorder, was put forward for the revolutionary therapy five years ago by his adoptive mother Trisha Knuth.

This involved implanting a donor’s bone marrow into Charlie to release stem cells that heal the body from within.

Jon’s mother Brenda said: ‘Within weeks you could literally watch his skin heal. It started in his head and you could see it travelling down his body, and overnight I witnessed his skin go from tissue paper, translucent in appearance, to normal little boy skin.’  

Charlie is now hoping to take part in a gene-editing trial, which, providing funding is available and the study is a success, would finally offer an  EB cure.

Although nervous, Charlie’s success has motivated Jon to travel thousands of miles to see the doctor who led the procedure to discuss whether the treatment could work for him.   

Jon has to spend four hours a night bathing and bandaging his delicate skin

Jon has to spend four hours a night bathing and bandaging his delicate skin

He describes the condition as 'torture' and says he is just as weak on the inside as the outside

He describes the condition as ‘torture’ and says he is just as weak on the inside as the outside

‘Skin completely tore off when they tried to get a little blood out of him’   

Brenda, said: ‘The day Jonathan was born was pretty hectic. They noticed something wasn’t right, he was missing little bit of skin here and there, and I figured he was just in too long as he was two weeks late.

‘They were testing for certain problems and the skin completely tore off when they tried to get a little blood out of him.

‘I had people coming and saying we think he has epidermolysis bullosa. It was pretty devastating, and it was probably one of the worst days of my life, because they told me how horrible his life was going to be.

‘He wouldn’t be able to eat without pain, he wouldn’t be able to walk without pain – everything was just going to be pain.’ 

Jon added: ‘Its torture, mentally and physically. I’m fragile on the outside because of the skin disorder, but on the inside I’m just as weak.’

‘The Boys With No Skin: Extraordinary People’ airs Monday 29 January 10pm on Channel 5.

Fellow sufferer Charlie's condition has drastically improved due to the risky stem-cell therapy

Fellow sufferer Charlie’s condition has drastically improved due to the risky stem-cell therapy

He had one of the worst cases ever and was abandoned at birth due to his disorder

He had one of the worst cases ever and was abandoned at birth due to his disorder

Meeting Charlie has motivated Jon to consider undergoing the life-threatening treatment 

Meeting Charlie has motivated Jon to consider undergoing the life-threatening treatment 



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