Mandibuloacral dysplasia: ‘You feel guilty not wanting her to get older’
The parents of five-year-old Isla say she is the only child in the world with a rare condition. …
The parents of a five-year-old girl have said they believe she is the only child in the world to have a rare genetic condition.
Isla was born with mandibuloacral dysplasia, which causes features of premature ageing.
The family have said they do not know what her future holds and have used social media to raise awareness of her condition.
Prof Pradeep Vasudevan, consultant clinical geneticist at Leicester’s Hospitals, said: “Isla’s condition is very rare – fewer than 50 cases have been recorded in medical literature.
“Because of this, many cases most likely go misdiagnosed or undiagnosed making it difficult to determine the true frequency of mandibuloacral dysplasia in the general population.”
Video journalist: Chris Waring
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