Families warn of more deaths without MLD screening

Families whose children have metachromatic leukodystrophy (MLD) have warned it will be too late for many to receive treatment unless a review into newborn screening is brought forward.

MLD is a genetic condition which affects the brain and nervous system, causing a progressive loss of physical and mental abilities - it affects roughly one in 40,000 children.

A treatment called Libmeldy on the NHS can save children's lives if it is caught early enough.

The UK National Screening Committee's review opted against newborn screening over uncertainties about test accuracy, cost, and the effectiveness of treating the condition before symptoms start. The next review is due between 2029 to 2030.

Testing for MLD is already widespread in Europe and two families across the North East and Cumbria are campaigning for the UK to follow suit.

Campaigners want screening to be included in the newborn blood spot test - formerly called the heel prick test - which checks for rare but life-threatening conditions, usually taken at about five days old.

In Shilbottle, Northumberland, Ally Wallace's daughters both have MLD.

Teddi is living the healthy, ordinary life of a five-year-old. Her six-year-old sister, Nala, is terminally ill.

After Nala started showing symptoms of the condition, both were tested and diagnosed with it.

Teddi, who had not yet started showing symptoms, was the first child to receive Libmeldy in the UK - the most expensive medicine ever approved for the NHS at £2.875m.

But it was too late for Nala, and Ally worries it will be the same for other families if newborn screening is not reconsidered for at least another three years.

"God knows how many more children will be diagnosed with MLD too late and die," Ally said.

"In comparison to other countries, the amount we screen for is disgraceful."

Last month, Health and Social Care Secretary Yvette Cooper said there was "not yet enough evidence" to include it in the test.

However, she said the screening committee was "awaiting evidence from pilot studies looking into screening for MLD and from the recently implemented Norwegian screening programme".

Several years on from Teddi's treatment, Nala is receiving around-the-clock care, and Ally said she knows her daughter "hasn't got much longer left".

"As a family, we try to stay as positive as we possibly can, some days are dark and I just want to lie in bed and cry - but then I won't be doing any justice for Nala," she said.

She said she was also worried about Teddi falling victim to Glass Child Syndrome, an informal term for the experiences of non-disabled children who grow up with a disabled sibling who has intensive support needs.

It describes scenarios where parents' time and energy are focused on the disabled child, but can leave the non-disabled child feeling overlooked.

To avoid this, Ally said she was consciously trying to have days she could spend with Teddi one-on-one.

But she added Teddi was a "brilliant" sister to Nala and had been helping to look after her.

In Grange-Over-Sands, Cumbria, Connie Elson was 13-years-old when she died from MLD in 2022, after losing her ability to walk, speak or eat.

Similarly, her diagnosis after showing symptoms at four years old led to her three-year-old brother Joe being tested and found to have the same condition.

Parents Nicola and Ian were told they were carriers of MLD and there was a one in four chance it would affect any children they had.

"This is all too unimaginably awful to happen once, it was beyond fathomable it could happen again," Nicola said.

Joe was taken to Italy to receive the same treatment as Teddi when it was still seen as experimental - now 16, his mum described him as a "strapping young man" with no symptoms.

But she said: "We should not have to rely on a family having already experienced the devastating diagnosis to give their younger siblings the chance of treatment.

"It won't bring my little girl back, but it will stop other children and their families living through the heartache of a too-late diagnosis.

"I don't want anyone else to go through the horrors we've endured."

The Department for Health and Social Care has been approached for comment.

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