- A 19-month-old girl is the first child in the UK to receive treatment for a deadly genetic disease.
- The treatment therapy, called Libmeldy, is the most expensive drug licensed in Europe.
A toddler diagnosed with a deadly hereditary condition has the opportunity to "lead a long and hopefully normal life" after receiving £2.8 million, or about $3.3 million, gene-therapy medication, the UK's NHS announced earlier this week. Her oldest sister, who was also diagnosed with the same disease, will not be able to receive the treatment and fully benefit from it.
The 19-month-old Teddi Shaw was the first child in the UK to be successfully treated for metachromatic leukodystrophy, or MLD, with a drug called Libmeldy. It is the most expensive drug licensed in Europe, according to the NHS.
The country's health service negotiated a confidential discount, the NHS said in a statement, to provide the treatment to patients.
Late-infantile MLD is an inherited genetic disease that usually occurs before babies hit 30 months old. It causes severe damage to a child's nervous system, and if untreated, the disease can lead to sight, speech, and hearing impairments, seizures, and a much-reduced life expectancy.
It is common in these cases of MLD for treatment to only save younger siblings, because when symptoms become apparent in older siblings, it is usually too late to treat them, Vivienne Clark, the chair of the MLD Support Association UK, told Insider.
To try and catch the disease early, campaigners and many doctors are pushing for the heel-prick tests for all newborns to also include screenings for MLD.
Clark is hopeful, however, that with the publicity of the effectiveness of Libmeldy in Teddi's case, health officials could take screenings for the rare disease more seriously. "How can you watch children die when you have a treatment?" Clark said.
The organization is also pushing for more awareness and research into adult-onset MLD, the rarest form of the condition.
The Royal Manchester Children's Hospital, one of just five hospitals across Europe that offers the treatment, successfully treated Teddi last year.
"Teddi is doing absolutely brilliant," Ally Shaw, Teddi's mother, said in a statement. The family lives in Northumberland in the northeast of England.
"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."
—Fergus Walsh (@BBCFergusWalsh) February 15, 2023
The gene therapy, which works by replacing stem cells with defective genes that cause MLD with newly treated ones, marks major progress in the treatment for the rare disease because it only requires a one-time infusion.
Teddi's "miracle" treatment is a "huge moment of hope" for families that the devastating disorder affects, Amanda Pritchard, the chief executive of the NHS, said.
Both Teddi and her older sister, Nala, were diagnosed with MLD last April. The 3-year-old Nala is not able to have Libmeldy because she was not diagnosed early enough for the treatment to be effective against the irreversible damage the disease causes.
In an exclusive interview with the BBC that followed Teddi's treatment over the course of a few months, the girls' father, Jake, said that while Teddi's treatment was a "blessing," he is also "absolutely heartbroken" about Nala's condition.
"Her body is basically kind of gradually shutting down and she will lose most of her senses. So, it will come to a point where there's nothing left for her to lose," Jake told the BBC.
"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. 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," Pritchard said, the Mirror reported.
About four to five children are born with MLD each year in England and Wales, the National Institute for Health and Care Excellence estimated. Around 3,600 babies are born with the disorder worldwide each year, according to the charity Cure MLD.