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Toddler thought to be the only person in the world with an ultra-rare ageing disease

Alexandra Thompson
Updated
Isla Kilpatrick-Screaton from Leicester, UK, who was born with mandibuloacral dysplasia, and is the only child in the world recorded with this condition. See SWNS story SWMDcondition. A toddler from Leicester is the only child in the world with a terrifying life-threatening condition. After two-year-old Isla Kilpatrick-Screaton was born she had a whole host of medical problems and it was a month before her parents, Kyle and Stacey, were able to take her home. But she had to be rushed back to hospital soon after when she turned blue. She had to be resuscitated after another emergency when she was 10 months old, and it was discovered that her tongue was blocking her narrow airway every time she became upset. A tracheostomy was performed, to make sure she was no longer at risk of suffocation, which left her unable to cry. Isla was diagnosed with mandibuloacral dysplasia, a condition that causes a variety of abnormalities involving bone development and skin colouring. She also has a heart condition and very narrow airways. Isla is able to speak some words but her main form of communication is Makaton sign language. Their genetic consultant told Stacey and Kyle that Isla is the only child in the world recorded with this condition and she is being studied by numerous consultants, paving the way for other children with the condition in the future.
Isla Kilpatrick-Screaton is the "only person" with a specific ageing mutation (SWNS)

A two-year-old girl is battling an ageing disease so rare she’s thought to be only the sufferer in the world.

Isla Kilpatrick-Screaton, from Leicester, has the so-called “Benjamin Button disease” mandibuloacral dysplasia, which causes her cells to age far too quickly.

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Just 40 cases of the genetic condition have ever been reported, according to the National Organization for Rare Disorders.

DNA tests reveal Isla carries a specific mutation that has never before been seen in any other sufferer.

With her condition so rare, the toddler – who battles a heart disorder and breathing difficulties – faces an uncertain future.

Collect photo of Isla in a coma 24 hours after being born. Isla Kilpatrick-Screaton from Leicester, UK, who was born with mandibuloacral dysplasia, and is the only child in the world recorded with this condition. See SWNS story SWMDcondition. A toddler from Leicester is the only child in the world with a terrifying life-threatening condition. After two-year-old Isla Kilpatrick-Screaton was born she had a whole host of medical problems and it was a month before her parents, Kyle and Stacey, were able to take her home. But she had to be rushed back to hospital soon after when she turned blue. She had to be resuscitated after another emergency when she was 10 months old, and it was discovered that her tongue was blocking her narrow airway every time she became upset. A tracheostomy was performed, to make sure she was no longer at risk of suffocation, which left her unable to cry. Isla was diagnosed with mandibuloacral dysplasia, a condition that causes a variety of abnormalities involving bone development and skin colouring. She also has a heart condition and very narrow airways. Isla is able to speak some words but her main form of communication is Makaton sign language. Their genetic consultant told Stacey and Kyle that Isla is the only child in the world recorded with this condition and she is being studied by numerous consultants, paving the way for other children with the condition in the future.
Isla was put into an induced coma for the first five days of her life (SWNS)

Isla’s mother Stacey Kilpatrick-Screaton, 33, enjoyed a normal pregnancy until she went into labour at 36 weeks on 2 February 2017.

The delivery was dramatic, with the youngster nearly suffocating.

“Once she was born and cut off the umbilical cord she couldn’t keep her oxygen level above 60%, when it needed to be 90%,” Mrs Kilpatrick-Screaton, who is Isla’s full-time carer, said.

“The nurses were trying to keep her airways open for what felt like hours. We expected to be able to see her but she was taken to neonatal intensive care.

Isla went straight into intensive care when she was born

“We nearly lost her. She was fighting against everything they were trying to do.”

Isla was put into an induced coma for the first five days of her life, with her parents unable to hold her.

A month after she was born, the youngster was deemed well enough to go home, but the good news didn’t last long.

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“We had to ring an ambulance after six days because she started choking, spluttering and turning blue when we were bottle feeding her,” said Mrs Kilpatrick-Screaton, who is also mother to seven-year-old Paige.

“One of us would do CPR while the other held the phone.

“In hospital they managed to clear her airways and she spent another two weeks there.”

At three months, she was rushed back when her tongue blocked her airway, causing her to turn blue. After being resuscitated, doctors discovered this happened every time she got upset.

Following numerous tests, Isla was eventually diagnosed with mandibuloacral dysplasia in October 2017.

Baffled, the youngster’s parents were reportedly told to look up the disorder online, with doctors unable to explain exactly what was wrong.

Parents ‘feel clueless’ over her condition

“We were light-heartedly told to 'get googling',” Mrs Kilpatrick-Screaton said.

More than two years on, the parents still feel clueless about their daughter’s condition.

“We're told her condition isn't life-limiting but we just don't know for sure as her case is so unique,” Kyle Kilpatrick-Screaton, 36, said.

“We have been left in the dark somewhat. There's not really any support available so we just take it day by day.”

Isla with her parents Stacey and Kyle and sister Paige. Isla Kilpatrick-Screaton from Leicester, UK, who was born with mandibuloacral dysplasia, and is the only child in the world recorded with this condition. See SWNS story SWMDcondition. A toddler from Leicester is the only child in the world with a terrifying life-threatening condition. After two-year-old Isla Kilpatrick-Screaton was born she had a whole host of medical problems and it was a month before her parents, Kyle and Stacey, were able to take her home. But she had to be rushed back to hospital soon after when she turned blue. She had to be resuscitated after another emergency when she was 10 months old, and it was discovered that her tongue was blocking her narrow airway every time she became upset. A tracheostomy was performed, to make sure she was no longer at risk of suffocation, which left her unable to cry. Isla was diagnosed with mandibuloacral dysplasia, a condition that causes a variety of abnormalities involving bone development and skin colouring. She also has a heart condition and very narrow airways. Isla is able to speak some words but her main form of communication is Makaton sign language. Their genetic consultant told Stacey and Kyle that Isla is the only child in the world recorded with this condition and she is being studied by numerous consultants, paving the way for other children with the condition in the future.
Isla with her parents, Stacey and Kyle, and sister Paige (SWNS)

The two-year-old, who is fed via a tube, weighs just 15lbs (6.8kg) and has only recently started crawling. Barely able to speak, she largely communicates via sign language.

“Isla makes herself understood and is very clever,” Mrs Kilpatrick-Screaton said. “She is very expressive and communicative”.

The condition has affected the youngster in an array of other ways.

“Her symptoms are narrow airways; pale, thin skin and a small jaw which means her tongue is far back in her throat which can stop her breathing,” Mrs Kilpatrick-Screaton said.

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“She is either cold or red-hot. If she becomes badly unwell her temperature can go up to 40°C (104°F).

“She sees about 12 consultants, has from one-to-six appointments a week and a whole cabinet of medical records.”

The family rely on the Rainbows Childrens’ hospice, in Loughborough, to let Isla play like any other child.

“It is just amazing being able to see Isla playing with her sister with her mum nearby,” Mr Kilpatrick-Screaton, a self-employed builder, said.

The family are speaking out to help others learn about their daughter’s disease.

“I just really want to raise awareness of the disease to help Isla and other children that might have it in the future,” Mr Kilpatrick-Screaton said.