Posted on Wednesday 13 August 2014
A newborn baby whose leg was almost amputated after her rare condition was misdiagnosed has been saved thanks to a doctor halfway around the world.
Eve Sutton-Kirkby, now one, had no skin on her badly deformed left leg when she was born in Singapore weighing just 4lbs 2oz.
Doctors in Singapore thought Eve had a bone disorder that would require amputation but thanks to a photograph seen by a family friend and dermatologist, she was diagnosed with the rare genetic skin condition epidermolysis bullosa (EB).
Eve’s mum Eloise, 31, says: “When Eve was born her left leg had not developed properly from the knee down. It was bloody, badly deformed, and the ankle had no skin on it. It was quite a shock and came totally out the blue.”
Eloise sent a picture of Eve’s leg to her friend Dr Emma Craythorne, a consultant dermatologist in the St John’s Institute of Dermatology at St Thomas’ Hospital, London.
Dr Craythorne says: “As soon as I saw the picture of Eve’s leg I instinctively felt there’d been a misdiagnosis and showed the photo to my colleague Dr Jemma Mellerio who is an expert in EB.”
Dr Mellerio, now called ‘St Jemma’ by Eloise and her partner Bernie, recognised straight away the real problem with Eve. She says: “Eve's condition presented itself in a fairly typical way for EB, but because it is such a rare condition doctors simply did not recognise it as they’d never seen it before.”
EB affects 1 in 50,000 people and causes blisters, open wounds and sores to form on the skin at the slightest touch.
Eloise and Bernie had to courier theirs and Eve’s blood samples to London for genetic testing because it is not permitted in Singapore.
The family then flew to London where tests confirmed that Eve has EB. When they returned to Singapore they followed Dr Mellerio’s advice to make sure she got the best care possible.
“We felt so supported and we were instantly given hope knowing that Emma and Jemma could help us,” recalls Eloise.
“We’re so grateful for the warm and supportive approach from the whole team at St John’s, they’ve been nothing short of incredible. Now that we have their knowledge and training we are well equipped to manage Eve’s EB as best we can.”
The specialist EB team is part of St John’s Institute of Dermatology at St Thomas’ Hospital. It is one of only four EB centres of excellence in the UK.