A toddler with a deadly genetic disorder has been saved by £3million gene therapy treatment on the NHS – but sadly it is too late for her sister.
Little Teddi Shaw has become the first NHS patient to receive the treatment for metachromatic leukodystrophy, a rare condition that ravages a child’s organs and nervous system.
The 19-month-old was diagnosed with MLD last April, at the same time as three-year-old sister Nala.
Life expectancy with MLD is between five and eight years, meaning both girls would have been expected to die in childhood had treatment not been available.
But Teddi is effectively cured after undergoing the treatment that removes stem cells and replaces the faulty gene before re-injecting the treated cells.
However, Nala was not eligible because under NHS rules the therapy must be administered before irreversible damage has progressed, causing impaired sight, speech, hearing and movement.
Mum Ally, 32, said: “Our world was turned upside down when both of our daughters were diagnosed with MLD.
“Being told Nala wasn’t eligible for any treatment, would continue to lose all functions and die extremely young was the most heart-breaking and hardest thing to come to terms with.
“However, amid the pain was hope for our younger daughter, Teddi. We are extremely privileged that Teddi is the first child to receive this new gene therapy treatment recently made available on the NHS, and grateful that she has the opportunity to lead a long and hopefully normal life.
“Without this treatment, we’d be facing both our children being taken away.”
The therapy, known by its brand name Libmeldy, is priced at £2.8million and was the world’s most expensive drug when NHS England negotiated a confidential discounted deal with makers Orchard Therapeutics a year ago.
It remains the most expensive drug licensed in Europe. A specialist unit at Royal Manchester Children’s Hospital is one of only five sites administering it, and the only one in the UK.
Teddi, who lives in Northumberland with Nala, mum Ally and dad Jake, 29, had her stem cells removed and the faulty genes replaced in several stages between June and October last year. Even since then sister Nala’s condition has deteriorated significantly as she loses motor function and needs increasing help getting around and feeding herself.
The family is now campaigning for a check for MLD to be added to the heel-prick test for newborns to ensure more children like Nala do not miss out on the life-saving treatment.
Mum Ally said: “Teddi is doing absolutely brilliantly. 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.
“We hope that one day a treatment becomes available for all stages of MLD. We feel strongly it should be added to the newborn screening test to save more families from this heartache.”
Libmeldy is only available to young children with very early symptoms of the condition, so long as they can still walk independently and with no evidence of cognitive decline.
NHS chief 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. It means that children like Teddi can do the things that all children should be able to, like going to school and playing with friends.
“I am delighted that we have given this miracle treatment to the Shaw family at what must have been a horrendous time for them.”
MLD is an inherited condition and it is not unusual for two siblings to suffer it. The younger sibling is often tested when the older shows symptoms.
People can be asymptomatic carriers of MLD. Where there is no family history of the condition, it is usually diagnosed through a combination of brain MRI and blood and urine tests, before genetic testing to identify the specific mutation.
A child of a sufferer has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Prof Simon Jones of the Manchester Centre for Genomic Medicine and director at Royal Manchester Children’s Hospital said: “Prior to this service being made available via the NHS, there were no approved treatment options available. While there are various subtypes of the condition, in its later stages, all forms largely result in children losing their ability to move and speak.
“I care for many patients with later-stage MLD and can testify to the devastating impact it can have. We are delighted to be one of five European centres to deliver this.”
Vivienne Clark of the MLD Support Association UK said: “We are absolutely delighted Teddi has received treatment and will now be expected to lead a normal life. This revolutionary, life-saving treatment is a success story of the NHS England Commercial Medicines Unit being able to strike a deal with Orchard Therapeutics.”
Health Secretary Steve Barclay said: “Gene therapy is transforming healthcare and saving lives. Thanks to treatments such as Libmeldy, children like Teddi and their families can avoid heartbreak and spend more precious moments together.”
