Toddler is first UK patient to have revolutionary drug for fatal condition, but it's too late for her sister, 3, with same disorder

15 February 2023, 07:15

Teddi and older sister Nala
Teddi and older sister Nala. Picture: Alamy

By Kit Heren

A little girl is the first patient in the UK to have an expensive but revolutionary gene therapy for a fatal condition - but the drugs have come too late for her older sister with the same disorder.

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Teddi Shaw, aged 19 months, has metachromatic leukodystrophy (MLD) but may be able to have a normal life after Libmeldy was approved on the NHS for the inherited condition, which causes serious damage to the nervous system and organs, dramatically cutting life expectancy.

Libmeldy had a list price of £2.8 million when it was approved last year, but NHS England reached agreement with the firm Orchard Therapeutics to offer it at a discounted price.

Libmeldy correct the genetic cause of MLD by inserting functional copies of a faulty gene into the patient's own stem cells.

Teddi, from Northumberland, is now a healthy and happy toddler and shows no signs of MLD.

Teddi with Nala
Teddi with Nala. Picture: Alamy

But her sister Nala, 3, has the same condition and is too old to be treated with Libmeldy.

Mrs Shaw said: "In April last year, our world was turned upside down when not one but both of our daughters were diagnosed with MLD.

"Being told our first daughter, Nala, wasn't eligible for any treatment, would continue to lose all functions and die extremely young was the most heartbreaking and hardest thing to come to terms with÷.

"However, amongst the pain, was hope for our younger daughter, Teddi. We were told that a new gene therapy treatment had, luckily, recently been made available on the NHS.

Teddi is now a happy, healthy toddler
Teddi is now a happy, healthy toddler. Picture: Alamy

"We are extremely privileged that Teddi is the first child to receive this on the NHS and grateful that she has the opportunity to lead a long and hopefully normal life. Without this treatment, we would be facing both our children being taken away.

"We can only hope that, one day, a treatment becomes available for all stages of MLD, and we feel strongly that it should be added to the newborn screening test to save more families from having to go through this heartache."

She added: "Teddi is doing absolutely brilliant. She is walking, running, a chatterbox - absolutely no signs so far of MLD. She is an absolute character and has everyone around her laughing all the time."

Only around five children are born each year in England with MLD, which is caused by a lack of the enzyme Arylsulfatase-A.

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Without this enzyme, substances called sulphatides build up, eventually destroying the protective myelin sheath of the nervous system.

As a result, the nerves in the brain and the peripheral nerves cease to function properly, causing symptoms including muscle weakness, sight and hearing loss, difficulty walking, loss of speech, cognitive decline and seizures.

Children whose MLD starts before 30 months (the most common and the most rapidly progressing type) deteriorate quickly and usually die between the ages of five and eight.

Those whose MLD starts between 30 months and six years of age have a life expectancy of 10 to 20 years more.

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Libmeldy is being made available on the NHS as a specialist service through the Royal Manchester Children's Hospital. This centre is one of just five European sites administering the treatment, and is the only site in the UK.

NHS chief executive Amanda Pritchard said: "This is a huge moment of hope for parents and their babies who are born with this devastating inherited disorder, that can now be treated with a single round of revolutionary treatment at a specialist centre on the NHS.

"I am delighted that we have given this miracle treatment to the Shaw family at what must have been a horrendous time for them, and I would like to thank the staff at Royal Manchester Children Hospital for turning research into reality for Teddi and others who will benefit."

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Professor Rob Wynn, director of the paediatric bone marrow transplant programme at the Royal Manchester, said: "Being able to offer this first licensed treatment as part of NHS standard of care and, crucially, transform Teddi's life, has been an exciting experience for all of us involved here in Manchester - staff, researchers, patients and families.

"Through the years, colleagues and I have looked after a range of patients with rare but severe conditions, where treatment has been limited.

"It is wonderful to be involved in this breakthrough moment and deliver a gene therapy which will transform outcomes for patients with MLD."

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