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Imagine if there was a treatment available that could save your child’s life, but as soon as you discover that they need it, it is too late to work. That is the heart-breaking reality faced by Emily and Sean Stock, from Hertfordshire, regarding their two-year-old daughter Lily.
She has metachromatic leukodystrophy (MLD), a rare genetic disease which attacks the brain and spinal cord and is progressively robbing her of the ability to move, speak, see, swallow and eat. It will likely lead to the loss of her life between the ages of five and eight.
In 2023, the world’s most expensive drug, Libmeldy, became available on the NHS. The £2.8m treatment is a gene therapy that can halt the progress of MLD and allow a child to go on to live a full and healthy life, but only if it is used before the child is symptomatic.
Lily’s parents are calling on the government, for the NHS and National Screening Committee to add MLD to the list of serious genetic conditions that are screened for at birth. “The only way we could have saved Lily would have been to know she had MLD before it started to take effect”, Emily says.
“Libmeldy was first used in the UK in 2023 when it successfully halted the progress of MLD in Teddie. Once the disease takes hold, an infant’s regression is swift. In July, Lily, aged 19 months, was developing as expected; she was able to sit up unsupported and was working hard to stand.
She would laugh, smirk and smile when praised for her efforts. Eight months on, she is unable to support herself and has to be fed through a tube. “She’s a beautiful girl, she was a bright little button, she had a wicked laugh”, says Emily.
Josh Dean, the Labour MP for Hertford and Stortford, has raised Lily’s case in parliament. “I would urge the government, the NHS and the UK National Screening Committee to seriously consider adding MLD to new-born screening”, he says. “This will do so much to reduce the chances of this happening to other young babies and children”
The National Screening Committee is in the process of reviewing the evidence for a screening programme. In October, the government launched a study to test over 100,000 newborns for more than 200 conditions, including MLD.
Sean’s lifelong friend, David Kiddie, from Hertford, is embarking on a 190-mile fundraising walk, Lily’s Light, between the 10 southern Premier League football grounds and Wembley, to raise funds and awareness about the condition. He is due to finish the challenge by facing his fear of heights and abseiling down the Tottenham Hotspur Stadium.
“Sean, who is a Tottenham fan, says David’s support “means the world” and strangers have been backing the family and the “whole Hertford community”.
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