Little Isla Kilpatrick-Screaton is truly one of a kind, as she lives with a condition which is so rare she is the only person in the world to have it.
The two-year-old suffers from a unique strand of mandibuloacral dysplasia – also known as ‘Benjamin Button disease’ as it causes rapid ageing of the cells.
But doctors were left baffled when tests results showed a mutation in her genes that had never been seen before. Parents Stacey, 33, and Kyle, 36, were left shocked after being told by consultants to ‘start Googling’, as they could not tell them exactly what was wrong with their daughter.
The couple now face a daily battle to care for Isla, who faces an uncertain future due to a heart condition and very narrow airways, which cause breathing difficulties.
Isla weighs just 15lbs and has only just started to crawl. She can say very few words and her main form of communication is Makaton sign language.
Stacey and Kyle, from Leicester, have also been told to expect to see accelerated ageing of her cells giving her an appearance beyond her years.
Despite her health problems, her proud mum and dad say she is a happy little girl who enjoys nothing more than playing with her seven-year-old sister, Paige.
Stacey, who left 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 is 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 carriers, 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 be seven examples ever in medical literature of mandibuloacral dysplasia – but none of them are this particular mutation.
Isla was born at 36 weeks at Leicester Royal Hospital, weighing 5lbs 10oz, on February 2, 2017.
It was a month before Kyle and Stacey were able to take her home – but she was rushed back to hospital soon after when she turned blue.
She was diagnosed with mandibuloacral dysplasia in October 2017, a condition that causes a variety of abnormalities involving bone development and skin colouring.
Isla now has a 2.5mm tube down her throat called a tracheostomy and a gastrostomy to enable her to be fed high-calorie milk and small items of solid food.
Stacey added:
Isla makes herself understood and is very clever. She is very expressive and communicative with us and Paige.
She can’t cry so when she sleeps she’s attached to a heart monitor and an alarm goes off when she wakes up. This means we can sleep at night.
She has only just started crawling, which is late, because she’s very petite in all ways.
But she can walk with the aid of a frame, which gives her the freedom of a child to run away from us if she wants.
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.
She is either cold or red-hot. If she becomes badly unwell her temperature can go up to 40 degrees.
She sees about 12 consultants, has from one to six appointments a week and has a whole cabinet of medical records.
Stacey and Kyle had not been aware of any problems during the pregnancy and it was only after she born that her health issues became apparent.
Stacey added:
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%.
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 neo-natal intensive care. We nearly lost her – she was fighting against everything they were trying to do.
She was incubated for the first five days of her life and put in an induced coma, so we were unable to hold her. Nurses had to feed her because she was losing weight. She was in intensive care for two weeks then we took her home.
We had to ring an ambulance six days after we took her home because she started choking, spluttering and turning blue when we were bottle feeding her. One of us would do CPR while the other held the phone. It was awful for our daughter Paige to see.
In hospital they managed to clear her airways and she spent another two weeks there. It was 12 weeks before I had to take her in again when she had trouble breathing.
Genetic tests were done in February 2017 and her condition was finally diagnosed in October.
Dad Kyle added:
We’re told her condition isn’t life-limiting but we just don’t know for sure as her case is so unique.
We have been left in the dark somewhat. We have been told its mandibuloacral dysplasia of which there is usually two types A or B. But Isla doesn’t fall into either of these categories so we don’t entirely know where we stand. There’s not really any support available so we just take it day by day.
We were told part of the condition could be rapid ageing of the cells, but we just don’t know yet whether that will happen as nobody can say for sure.
She is extremely small and frail though, I joke and call her grandma. She really keeps us on our toes and she really is a character. We’re looking forward to Christmas.
I just really want to raise awareness of the disease to help Isla and other children that might have it in the future.
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Niamh Shackleton is a pint sized person and journalist at UNILAD. After studying Multimedia Journalism at the University of Salford, she did a year at Caters News Agency as a features writer in Birmingham before deciding that Manchester is (arguably) one of the best places in the world, and therefore moved back up north. She’s also UNILAD’s unofficial crazy animal lady.