Ilkeston couple speak out about daughter’s rare disease

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The parents of an Ilkeston tot who suffers from rare condition maple syrup urine disease have welcomed changes that will see newborns tested for genetic diseases.

Poppy Bell-Minogue first became ill at nine months old with a chest infection and suffered a seizure three months later due to an infection.

The toddlers parents Samantha and Eugene, of Charnos Street, say that if daughter had been tested after her birth it would have saved a lot of worry.

Poppy, now 20 months, was diagnosed with MSUD, a rare, metabolic disorder, which had lead to a harmful build-up of amino acids in the blood and was affecting her brain. A special low protein diet could control it, meaning they had to stop giving her milk and find a protein-free alternative.

Samantha, 30, said: “When we heard about MSUD, for us it was part relief, and part ‘what is it?’ Poppy had been very poorly, her nervous system and brain degenerated. I remember we received a phone call when we were in the car from a doctor who said he remembered this disease called maple syrup urine disease and he thought it might be that. The tests came back positive but because it was so rare we couldn’t find out much about it.

“If the doctor hadn’t remembered about the condition I would have continued to give her milk and would have killed her. It was really lucky.”

Poppy has an intermediate form of the disease which means she is affected by MSUD if she picks up an illness. Most babies die at birth, or are fed through a nasal tube.

“At the moment Poppy is well, but that changes week to week, ”Samantha said.

Samantha and Eugene are now setting up a charity called Maple Syrup Urine Disease UK, which is currently being rubber stamped. It will be the only charity specifically for MSUD.

The aim is to educate people working in the health sector - such as midwives - about the disease.

At the moment they have to take Poppy to a specialist in Sheffield. Samantha said it is still a struggle as health professionals fail to spot when Poppy is unwell as she doesn’t look ill and they don’t know about the disease. They hope the charity will change that.

To kick-start the charity fundraising they will be taking part in the London Marathon in April.