NHS ‘failing to test for rare diseases at birth’, experts warn 

Thousands of UK babies are at risk of disability or death because they are not being screened for rare diseases, experts said yesterday.

Britain has fallen behind countries such as Poland, Hungary and Slovakia in testing for severe conditions at birth.

MPs warned this could mean British babies becoming the ‘sick children of Europe’ and called for changes to NHS screening.

Every baby in the UK is offered a heel prick test for conditions such as sickle cell disease and cystic fibrosis when they are a few days old.

Ava Morton, who was diagnosed with  a rare and terminal illness called Metachromatic Leukodystrophy (MLD)

However, they are tested for only nine diseases – significantly fewer than in other developed countries.

The US tops the global list, screening its babies for up to 59 conditions, depending on the state, while Iceland tests for 47 and Italy for 43.

How late diagnosis made life even harder for our girl Ava 

At the age of three, Ava Morton’s parents called her ‘jelly legs’ because she was always falling over

At the age of three, Ava Morton’s parents called her ‘jelly legs’ because she was always falling over

At the age of three, Ava Morton’s parents called her ‘jelly legs’ because she was always falling over.

It was only when her hands started to shake that they realised there was something more to it.

Doctors diagnosed Ava, pictured, with a rare and terminal illness called Metachromatic Leukodystrophy (MLD).

Mother Georgina Morton, from Westminster, said: ‘We were told to go home and make some happy memories. Fortunately, we discovered a clinical trial for gene therapy in Italy which saved Ava’s life.

‘However while the treatment was working she lost the ability to walk and she now struggles to speak.

‘If Ava was diagnosed sooner, she could have avoided life-long disability.

‘Newborn screening for rare diseases with viable treatments could literally make the difference between life and death.’

Her plea was echoed by Nicola Elson, whose daughter Connie was diagnosed with MLD at five. Nicola, from Cumbria, said: ‘She went from being a very happy and independent little girl to completely dependent on others. She is no longer able to walk, talk, sit up and even eat. Newborn screening would have caught Connie’s condition early and given her a chance.

‘The UK is so far behind many other European countries and that must be addressed.’

It means thousands of babies in the UK are at risk of severe infections, disability or even death because they do not have the same tests. Experts say an expansion of the UK’s screening programme to test for these conditions has the potential to save hundreds, if not thousands, of lives.

Bobby Gaspar, professor of paediatrics and immunology at University College London, said: ‘If we can diagnose some of these severe conditions at birth through the heel prick test, we can offer treatments that can change the lives of those babies.

‘Because our screening programme is so far behind, some children are now being born with severe diseases and can’t access the treatments they need. If we can screen for more conditions, we can save more babies and that’s why I’m backing this campaign.’



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