Heel prick test finds rare condition for baby Max Rudd

A baby boy will have to remain on a strict diet for life after an unusual blood condition was detected during his routine heel-prick test.

Max Rudd was born to parents Kimberley and Craig at Medway Maritime Hospital on October 21 last year.

Five days after he was born a midwife took the routine blood samples.

She told Mr and Mrs Rudd, of Noreen Avenue, Minster, that if they had not heard anything by the end of that week, they could take it that all was well.

However, on Halloween, Mrs Rudd got a call from the Evelina London Children’s Hospital to say they had Max’s results.

“Straight away I thought ‘Oh my God’,” Mrs Rudd said. “Just the fact they were ringing me made me think something was wrong.”

“The nurse told me the heel prick test had suggested Max had phenylketonuria, or PKU, and I was like ‘What the hell is that?’

“She then told us not to worry, but that me and Craig needed to take him to the Evelina the next day for further tests.”

PKU is a rare inherited condition that occurs only when both parents are carriers.

At the hospital The Rudds met with a consultant who told them Max lacked the enzyme that breaks down the amino acid phenylalanine, also known as “phe”, which then builds up in the blood.

If left untreated, it can cause brain damage.

There is no cure for PKU and the only treatment is a life-long, strict diet that keeps the amount of “phe” in the blood, which is essential for normal growth, at a safe and consistent level.

Mrs Rudd, 25, said: “We had never heard of it before and we didn’t know we were carriers; we were just so upset.

“The dietician at the Evelina recommended to keep Max on a strict diet forever, which means anything high in protein, such as meat, fish and eggs, need to be avoided. His diet will consist mainly of vegetables and fruit.”

They have to take blood samples from Max once a week to send to the hospital for monitoring.

The 13-week-old baby also has to drink “phe-free” formula milk, as well as a measured amount of breast milk, as part of his diet.

Mrs Rudd said: “I imagine it will get harder as Max gets older when he isn’t able to eat the same foods as his friends, but his dieticians have said they will help us through each stage.

“We are just taking each day as it comes.”