Having any sort of health issue can feel lonely at times, but even more so if you have a rare condition.
Two-year-old Isla Kilpatrick-Screaton doesn’t just have a rare condition, it’s one that nobody else in the world had; mandibuloacral dysplasia.
The Leicester tot was born with mandibuloacral dysplasia, and is the only child in the world recorded with this condition, of which there is very little research.
Her parents Kyle and Stacey noticed after Isla was born that she had a whole host of health issues, and it took a while before she was allowed to come from hospital.
Even when she was able to come home, she then had to be rushed back to hospital soon after when she turned blue, and another catastrophe followed when she was 10 months and had to be emergency resuscitated.
It was discovered that her tongue was blocking her narrow airway every time she became upset, and although doctors managed to save her with a tracheostomy, she became unable to cry as a result.
In October 2017, after genetic tests, she was then diagnosed with mandibuloacral dysplasia, and doctors told Kyle and Stacey to ‘start Googling’ because of the rarity of the condition.
Stacey, 33, and Kyle, 36, were also told by consultants that little Isla is the only known child in the world with the condition, which is sometimes known as ‘Benjamin Button disease’.
This is because it prompts rapid aging of cells, which make her look older than she really is, and increase her risk of other conditions like type 2 diabetes, high blood pressure, hardened arteries, kidney disease and heart disease.
Isla is currently unable to speak, and uses Makaton sign language to communicate. She also weights just 7kg and has a heart condition that affects her body temperature and sometimes makes it hard for her to breathe.
The condition can also turn her skin blue, and means she is extremely petite.
The family have taken it all in their stride, however, and Isla is progressing, having recently learned to crawl and walk with the aid of a frame.
She loves playing with her big sister Paige, 7, and the pair get to play at the specially-designed Rainbows Children’s Hospice in Loughborough, which has a pool and a garden.
‘Isla makes herself understood and is very clever,’ says Stacey.
‘She is very expressive and communicative with us and Paige…
Although Isla’s parents have been told that the condition itself is not life-limiting, they fear that her myriad related health concerns could affect her.
Her temperature sometimes rockets to 40C, and because she is unable to cry, Isla has to sleep with a heart monitor so Stacey and Kyle are able to sleep while making sure she is safe.
Stacey says, ‘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.
Kyle added, ‘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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