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 seven 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 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.”
