A girl suffering a world-first Benjamin Button-style condition which ages her tiny frame – has started school and is doing “really well”.
Isla Kilpatrick-Screaton, aged six, suffers from a strand of mandibuloacral dysplasia – which causes rapid ageing of the cells and makes her look much older than her years.
But she hasn’t let that hold her back and, after being denied education while forced to shield during the pandemic, little Isla has started school – and is thriving.
Isla is now a full-time student in year one at Granby Primary School and is making friends with everyone.
Mum Stacey Kilpatrick, 37, from Leicester, East Midlands, said: “She is so confident. Kids are running towards her rather than standing back and being hesitant to go towards her.
“I feel so proud. I am happy she has settled in well. School can be a difficult time with bullies – that was a huge worry.
“But it couldn’t be any more opposite. All the kids want to be her friends.”
Isla nearly suffocated in Leicester Royal Hospital after being born at 36 weeks, weighing 5lbs 10oz, on February 2, 2017.
It was a month before proud dad Kyle, who works at a gym and Stacey, were able to take Isla home – but she was rushed back to the hospital soon after when she turned blue.
Isla then had to be resuscitated after another emergency operation when she was three- months old, and it was found her tongue blocked her airway every time she became upset.
She was diagnosed with mandibuloacral dysplasia in October 2017, a condition that causes a variety of abnormalities, involving bone development and skin colouring.
Mother-of-two Stacey, who quit her job as a teaching assistant to become a full-time carer for Isla, said: “It takes a lot out of the family.
“When we had the diagnosis, the genetic consultant said Isla was the only one in the world to have this particular misspelling of the gene, which causes the mutation.
“We were light-heartedly told to ‘get Googling’. Even with the rarest conditions, there is a network of carers, but we don’t even have that.
“They couldn’t tell us how she is going to progress. No one else has the mutation of the gene which causes this deficiency.
“There only appears to have been seven examples ever in medical literature of mandibuloacral dysplasia – but none of them are this particular mutation.”
Isla’s mobility has worsened over the years and now requires a wheelchair. She also suffers hearing loss and has to wear hearing aids.
Stacey is now looking for a new home for her and her daughters Isla and Paige, aged 10, as her privately-rented house is no longer fit for purpose.
She added: “I can’t get Isla’s wheelchair into the house. I am having to carry Isla up the stairs.
“She is six years old. she wants her own independence. We don’t have a bath. I am having to bathe her in a baby bath.
“I have tried to contact the council to see if there is a way we can work together to find a new home. I have been on the waiting list for five years.”
Despite Isla thriving at school, the housing situation has taken a toll on Stacey’s physical and mental health.
She added: “It has taken its toll physically. I am having to carry Isla around and trying to get her wheelchair into the house. I feel like a failure.
“I feel like I can’t provide for my family. As a mother, to be able to provide a safe environment for your family to live in, is something we dream of.
“There are multiple steps to get in and out of the property. Isla’s room is so small you can’t even fit a bed in there – never mind her medical equipment.
“But despite this, Isla is being her happy self.”
