Newborn babies will now be routinely screened and treated earlier on the NHS for a rare, life-threatening metabolic disorder, which can result in the need for a liver transplant.
Hereditary Tyrosinaemia Type 1 (HT1) is a rare, genetically inherited disorder that affects around 7 babies per year in the UK. Left untreated, it can lead to severe complications such as organ damage and liver failure.
This condition will now be screened for, in the blood test that babies get on the fifth day after they are born, taken from the heel.
The test will help to identify and treat babies before symptoms appear, meaning they can get life-saving daily drug treatment sooner and be placed on a restricted diet to make them less likely to face long-term health problems in later life.
HT1 affects the way in which the body breaks down protein in food. Protein is usually broken down into amino acids by enzymes. In people affected by HT1, there is a mutation to the gene that controls the enzyme which breaks down an amino acid called tyrosine.
When the body is unable to break down tyrosine, a harmful chemical builds up in the blood; and left untreated, the disorder can cause liver failure, kidney disease and can lead to liver cancer.
The NHS has added HT1 to the NHS Newborn Blood Spot Screening Programme in England, following a recommendation by the UK National Screening Committee.
Once identified by screening, babies can be placed on a medication called Nitisinone and a special diet of regulated amounts of normal milk feed (breast or formula milk) with a special milk that is low in tyrosine. Older children with HT1 have a special low-tyrosine diet that will be managed by specialist dietitians.
The combination of Nitisinone and tyrosine-restricted diet can prevent the long-term complications of HT1 from developing.
Dulcie-May and her partner Ryan live in Bridgewater with their two-year-old-old daughter, Darla-May, and 15-month-old son, Hugo.
Soon after Darla-May was born, her mum noticed she had an enlarged stomach. They went to the doctor and to A&E, but her condition wasn’t diagnosed straight away.
When Darla-May was 10 months old, doctors told the family her liver, spleen and kidneys felt enlarged. She was sent for an emergency cancer referral and a stomach scan and blood tests showed that her liver was failing and her blood wasn’t clotting.
She was transferred to Birmingham Children’s Hospital where a liver specialist and metabolic team diagnosed Hereditary Tyrosinemia type 1 (HT1).
She was placed on medication and a low protein diet and is now thriving back at home.
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.
“Now Darla-May is thriving. 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.”
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 – and 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.”
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.”
