TEAM DIAGNOSES AND TREATS RARE GENETIC CONDITION
13 August 2013

Two month old Esme Kernycznyj from Mossley developed an angry rash which created a series of open wounds all over her body. Over a five-week period Esme’s mum Helen took her to the GP who tried various treatments but on the advice of a paedriatric nurse, who had visited the family, Helen decided to take her to Tameside Hospital.

Esme was admitted to the Children’s Ward and looked after by Dr. Petkar, Consultant Paediatrician and her team. She was treated for what was thought to be severely infected eczema. Dr Petkar requested a dermatologist to see Esme as the distribution of rash was not typical of infected eczema in a young baby.

She was seen by Dr Eileen Parry, one of Tameside’s Consultant Dermatologists, who diagnosed Esme with Acrodermatitis Enteropathica - a very rare condition due to zinc deficiency, which affects one in half a million people and resulted in the deaths of sufferers as recently as 40 years ago. This was confirmed by blood tests and Esme’s dramatic improvement once she started zinc supplements.

Dr Parry admitted this was the first case she had personally diagnosed in her 20 years of experience.

Esme’s mum Helen, a primary school teacher, said: “What we went through up until arriving at Tameside Hospital was horrendous – it was a really traumatic time. Esme was in a lot of pain because of her condition and as a mum that was very upsetting.

“I know the GPs that had seen Esme up until that point had tried to do their best but it wasn’t until we met Dr Parry at the hospital that my daughter’s condition was diagnosed. I don’t know how Dr Parry recognised it because it is such a rare genetic condition which the doctor herself admitted she hadn’t seen first hand before, but amazingly she diagnosed it correctly and now my daughter is just like any other girl her age.”

Acrodermatitis Enteropathica is a genetic condition which is caused by a zinc deficiency. Within hours of the team at Tameside successfully diagnosing the condition and starting the baby on zinc supplements, the tot’s condition started to improve and she was able to leave hospital within a week.

Dr Parry said: “There are over 2,000 different skin diseases and because Acrodermatitis Enteropathica is rare you would not think to check for it unless you had heard about the condition before. Fortunately, although I hadn’t seen a case first hand before, I had learned about it and I knew Esme had all the symptoms.

“The really satisfying thing from a medical point of view is that this is a condition which responds very rapidly to treatment, so within four or five days of starting Esme on zinc supplements, the difference really was dramatic.

“I’m delighted we were able to successfully diagnose and treat Esme and that her family feel they were so well treated. We are very lucky to have children’s facilities here at Tameside which are among the very best in the region.”

Helen added: “We were so happy with the standard of care at Tameside. It was excellent. It wasn’t just the medical care, but the way they helped the rest of us. We were given a private room, my two year old son Isaac was made to feel at home by staff in the playroom and Esme absolutely loved the sensory room.”

The family are still seeing a genetic doctor at the hospital and do not know whether Esme will have to remain on zinc supplements for the rest of her life.

“The hospital was lovely. Isaac had been really upset wondering what was happening to his new baby sister, but the staff in the playroom made him feel at home while Esme was being treated. He’s loving having his sister at home now and even helps out with giving her her medicine. They get on really well – in fact Esme’s first word was ‘Isaac!’

“To look at her now, you would never know what she’s been through. She’s a pleasant and happy little girl and I am so thankful the hospital was able to treat her.”