NHS to check all babies for life-threatening disorder

The NHS has announced that newborns will be screened for a rare, life-threatening metabolic disorder that can lead to kidney disease and cancer. A test for Hereditary Tyrosinaemia Type 1 (HT1) will be added to the heel prick test, also known as newborn blood spot screening.

It will become the 10th condition babies are checked for at around five days old, including cystic fibrosis and sickle cell disease. HT1 sufferers cannot break down an amino acid called tyrosine. This can lead to a build-up of harmful chemicals, leading to liver failure, kidney disease and liver cancer.

Around seven babies are born with the inherited disorder every year in the UK.

Dr Harrison Carter, NHS director of vaccination and screening, said: "Being able to screen for tyrosinaemia will help give hundreds of thousands of families extra reassurance and peace of mind.

"While rare genetic conditions will be ruled out in most cases, for those families affected it means treatment and care can begin straight away, to improve their baby's chances of leading a healthy life.

"This is a really vital step forward in care for newborn babies and will be important news for families who might be at risk of potentially life-threatening hereditary genetic conditions."

Babies found to have the disorder can be given medication and a special milk low in tyrosine.

Older children can manage the condition with a low-tyrosine diet.

The change was made following a recommendation by the UK National Screening Committee.

NHS chief midwife Kate Brintworth said: "The arrival of a newborn baby can be a very exciting and busy time for families, but the blood spot test is a key part of early NHS care and support because it can tell families so much about their baby's future health.

"Women and families can find out more about the test from their midwife during their pregnancy, including the different conditions the test is screening for, so we'd encourage them to talk to their maternity team about it."

Two-year-old 'thriving' after treatment

Darla-May was only diagnosed with HT1 at the age of 10 months, after her liver began failing. Her parents Dulcie-May and Ryan Higgs had noticed she had an enlarged stomach and went to A&E.

Doctors discovered the infant had an enlarged liver, spleen and kidneys. A stomach scan and blood tests showed her liver was failing and her blood was not clotting.

Dulcie-May said: "Seeing our daughter in pain was horrible. She was in such a bad way, and to not know when we were going home or if she would react well to the medication was just heartbreaking."

Darla-May, now aged two, was transferred to Birmingham Children's Hospital where the diagnosis was made.

She was placed on medication and a low protein diet and is now thriving back at home.

Dulcie-May said: "Not long after coming home she started to crawl, and now she's a very happy toddler, and to look at her you wouldn't think she has a rare metabolic genetic disorder.

"Ultimately, screening for tyrosinaemia will save lives. I think it's so important that the NHS offers it.

"I also think it will help families feel less alone. They'll be reassured to know that if they're planning on having more children in future the condition will be caught straight away."