A 19-month-old girl from the North East has become the first child in the UK to receive a revolutionary gene therapy for a fatal disorder.

Teddi Shaw, from Northumberland, suffers from deadly metachromatic leukodystrophy (MLD) but has been given the chance of a normal life thanks to one of the world’s most expensive drugs.

The therapy, Libmeldy, has been approved by the NHS for the condition, which is inherited and rare and causes serious damage to the nervous system and organs, dramatically cutting life expectancy.

Read more: Mark Robinson: Man admits manslaughter during murder trial

The drug 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 is a treatment that works to correct the genetic cause of MLD by inserting functional copies of a faulty gene into the patient’s own stem cells.

The stem cells come from the patient’s own bone marrow or blood and are then fed back into the body carrying the new genetic information.

The Northern Echo: Teddi Shaw, 19 months old, who has become the first child in the UK to receive a revolutionary gene therapy for a fatal disorder called metachromatic leukodystrophy. Teddi Shaw, 19 months old, who has become the first child in the UK to receive a revolutionary gene therapy for a fatal disorder called metachromatic leukodystrophy. (Image: NHS)

Teddi had her stem cells removed and the faulty genes replaced in several stages between June and October last year.

She is now a healthy and happy toddler and shows no signs of the devastating disease she was born with.

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.

The Northern Echo: Nala Shaw, sister of Teddi Shaw, 19 months old, who has become the first child in the UK to receive a revolutionary gene therapy for a fatal disorder called metachromatic leukodystrophy.Nala Shaw, sister of Teddi Shaw, 19 months old, who has become the first child in the UK to receive a revolutionary gene therapy for a fatal disorder called metachromatic leukodystrophy. (Image: NHS)

The drug, which is delivered as a one-off intravenous infusion, must be given before the irreversible damage caused by the disease progresses too far, according to guidance from the National Institute for Health and Care Excellence (Nice).

Teddi and Nala live with their parents Ally, 32, and Jake, 29.

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.

The Northern Echo: Teddi Shaw (left) with her sister Nala. Teddi who is 19 months old, has become the first child in the UK to receive a revolutionary gene therapy for a fatal disorder called metachromatic leukodystrophy.Teddi Shaw (left) with her sister Nala. Teddi who is 19 months old, has become the first child in the UK to receive a revolutionary gene therapy for a fatal disorder called metachromatic leukodystrophy. (Image: NHS)

“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.

“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.

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.”