A two-year-old girl from Leicester has been diagnosed with a condition so rare that she is the only person in the world to have it. Isla Kilpatrick-Screaton suffers from a unique strand of mandibuloacral dysplasia - also known as "Benjamin Button disease" as it causes rapid ageing of the cells.
But when tests results showed a mutation in her genes that had never been seen before it had left medics baffled and her parents were told to "start Googling" to find out what is wrong with their daughter.
Her mum Stacey, 33, and dad Kyle, 36, face a daily battle to care for Isla, who faces an uncertain future due to a heart condition and narrow airways that are causing her breathing difficulties, Birmingham Live reports.
Isla only weighs just 15lbs, has only just started to crawl and can say very few words. Her main form of communication is Makaton sign language, and her parents have been told to expect to see her cells aging rapidly which will make her a look a lot older than her years. 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 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."
Despite her health problems, her parents say she is a happy little girl who enjoys nothing more than playing with her seven-year-old sister Paige.
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