Health

'Early screening would have helped our daughter'

Poppy being treated in hospital

Poppy Bell-Minogue was nine months old when she became unwell.

Unbeknown to her parents, she had a rare, metabolic disorder, which had lead to a harmful build-up of amino acids in the blood and was affecting her brain.

From today, children like Poppy, will be screened for maple syrup urine disease - as well as eight other genetic diseases - a few days after birth.

For Poppy's mum, Samantha, and her husband, an early diagnosis would have made a huge difference.

"It would really have helped. We could have managed the disease from early on in her life. It would have saved us a lot of worry."

Instead, it wasn't until Poppy, from Ilkeston in Derbyshire, got a chest infection that the family began to notice something wasn't right.

Despite being treated with antibiotics, she developed other problems such as muscle weakness and constant agitation.

The symptoms disappeared when she stopped taking the drugs, but then just before her first birthday another infection brought on worrying seizures.

Brain damage

Tests and brain scans followed which revealed that the important coating around the nerves in her brain had degenerated.

Poppy's parents were told the devastating news that it was likely she had a serious brain disorder and they would probably lose her.

Only the intervention of a neurologist, who suggested testing her blood for amino acids, gave them a diagnosis of maple syrup urine disease, which although life-threatening, can be treated with a special low-protein diet.

The diet is used to prevent the build-up of harmful amino acids in the blood which people with MSUD cannot break down.

Amino acids are present in protein which we eat in the form of meat, fish, nuts and eggs.

Samantha says Poppy's diet from birth could have been different, if they had known.

"We wouldn't have given her breast milk, formula milk or food high in proteins after she was weaned."

Eating these foods made her condition worse and lead to high levels of harmful amino acids in her body which may have damaged her brain.

Most days, Poppy is healthy and well but the family has to be vigilant. Her condition can change very quickly if she is at all under the weather.

That is when she becomes lethargic and confused, and needs special monitoring.

Without any treatment, this could leave her in a coma or with permanent brain damage.

Maple syrup urine disease is a very rare condition, affecting about one in every 116,000 babies born in the UK, according to the NHS Screening programme.

It is one of nine serious genetic diseases now being tested for in babies between five and eight days old using the heel-prick blood test.

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