Parents of terminally-ill Saxilby boy call for MLD screening at birth

Tim and Michelle Garvey are calling for MLD screening to be added to the Newborn Screening Programme

The parents of a child diagnosed with a rare genetic disorder are calling for more screening for the condition.

Lucas, 11, from Saxilby in Lincolnshire, has metachromatic leukodystrophy (MLD), and is now terminally ill.

"Ultimately, everything Lucas was and is will be slowly stripped away from him," his father Tim Garvey said.

A treatment for the disorder is available, but only works before symptoms develop.

Lucas was diagnosed with the condition in July 2022, but was not eligible for treatment as he had declined too much for it to be effective, his mother Michelle Garvey said.

"I think for myself and Tim our life stopped at that point," she added.

Lucas's diagnosis meant his younger sister Penelope, aged seven, was tested and diagnosed after he developed symptoms.

It meant in December last year she was given a new potentially life-saving gene therapy treatment, Libmeldy.

"It has given her and us a lifeline," her mother said, adding: "It feels really bad because it's like a pay-off.

"It's horrendous what's happening to Lucas, but the fact that he's been diagnosed led to Penelope being tested."

'Lives can be saved'

Children with MLD lack an enzyme, which allows toxic material to build up, destroying the nervous system.

The family is calling for MLD to be added to the Newborn Screening Programme so it can be tested for in the standard heel prick test carried out when babies are five days old.

"Lives can be saved," Lucas's mother said.

"Knowing that our gorgeous little boy is dying is just… unbearable," she added.

A Department of Health and Social Care spokesperson said: "Although rare, MLD is a devastating genetic disorder and our sympathies go out to any child or parent having to deal with the consequences of this awful condition.

"When it comes to the screening of newborn babies, the government is guided by the UK National Screening Committee, an independent scientific advisory body.

"Although the committee does not currently recommend screening newborn babies for MLD, its most recent report in June concluded that the limited available evidence on the practice was promising and warrants further review.

"More in-depth research is now being carried out into the latest evidence on screening and will be reported back to the committee in due course."