Shilbottle toddler becomes first child in UK to receive revolutionary gene therapy

Teddi Shaw, from Shilbottle, is now well on the road to recovery after revolutionary treatment to combat metachromatic leukodystrophy (MLD).

The condition causes damage to the nervous system and organs, and results in a life expectancy of between just five and eight years.

The most common form of MLD usually develops in babies younger than 30 months and can lead to loss of sight, speech and hearing, as well as difficulty moving, brain impairment, seizures, and eventually death.

But the 19-month-old has been given the chance of a normal life thanks to one of the world's most expensive drugs.

The therapy, 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 works by removing the patient’s stem cells and replacing the faulty gene that causes MLD, before then re-injecting the treated cells into the patient.

It prevents the development of a crucial enzyme that leads to a build-up of fats that then destroy the protective layers around the child’s nerves.

Teddi had her stem cells removed and the faulty genes replaced in several stages between June and October last year at the Royal Manchester Children's Hospital.

She now shows no signs of the devastating disease she was born with.

"She's doing absolutely fine, considering what she's been through," mum Ally told the BBC. "She's still just her mischievous normal little self."

However, her family are still facing heartbreak because her three-year-old sister, Nala, who also suffers MLD, is too far advanced in her illness to benefit from the treatment.

It is ‘an absolute blessing’, that Teddi has received Libmeldy, says dad Jake, but ‘absolutely heartbreaking’ to watch Nala's decline.

"I would like to think that if another child was born with MLD, it could be picked up quick enough for them to be saved," added Ally.

Manchester University NHS Foundation Trust is one of just five European sites that will administer the treatment, and the only site in the UK.

NHS chief executive, Amanda Pritchard, said: “This revolutionary drug is a life-saver for the babies and young children who suffer from this devastating hereditary disorder and will spare their families untold heartache and grief.

“The deal we have struck is just the latest example of NHS England using its commercial capabilities to make good on the NHS Long Term Plan commitment to provide patients with cutting-edge treatments and therapies at a price that is fair to taxpayers.”

Clinical trials have shown this treatment will deliver substantial health benefits, drastically improving the patient’s quality of life and life expectancy, giving them the prospect of a normal life.

Professor Simon Jones, Consultant in Paediatric Inherited Metabolic Disease at MFT and Clinical Director of NIHR Manchester Clinical Research Facility at Royal Manchester Children’s Hospital, said: “This is enormously welcome news for all families affected by MLD, a progressive, life-limiting condition for which there were previously no approved treatment options. While there are various sub-types of the condition, in its later stages, all forms largely result in children losing their ability to move and speak.

“It is extremely pleasing that this treatment will now be offered to all eligible patients, which is testament to the rigorous clinical trials that have paved the way for this decision, and the world-leading research and innovation capability within the NHS.