A 19-month-old girl diagnosed with a rare disorder is now happy and healthy, with no signs of the disease she was born with, thanks to a life-changing treatment.
Teddi Shaw has become the first child in the UK to receive a life-saving gene therapy treatment for the fatal disorder, metachromatic leukodystrophy (MLD).
The genetic disease causes severe damage to a child’s nervous system and organs, resulting in a life expectancy of between just five and eight years.
Teddi and her sister Nala, three, were both diagnosed with MLD in April 2022, but sadly Nala was not eligible for gene therapy treatment as the disease had progressed too far.
Their mum, Ally Shaw, 32, said: “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.”
What is MLD?
MLD – or metachromatic leukodystrophy – is a rare genetic disorder caused by a deficiency of the enzyme Arylsulfatase-A.
Without this enzyme, sulfatides build up, eventually destroying the myelin sheath (a fatty covering that protects nerve fibres) of the nervous system.
This leads to the nerves in the brain and the peripheral nerves stopping functioning properly, according to the MLD Support Association.
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 in childhood.
Symptoms can include difficulty talking, seizures, difficulty walking, personality changes, and behaviour and personality changes.
Where there is no family history of the condition, MLD is usually diagnosed through a combination of brain MRI, and blood and urine tests, before genetic testing is used to identify the specific mutation.
What does the new treatment do?
The new treatment works by removing the child’s stem cells and replacing the faulty gene that causes MLD before re-injecting the treated cells into the patient.
Teddi was the first person in the UK to receive the treatment outside of a clinical trial, which began when she was 12 months old with the removal of stem cells at the end of June.
Her stem cells were then treated before the transplant took place in August and Teddi was discharged back to her home in Northumberland in October.
Now, Teddi is a happy and healthy toddler showing no signs of the devastating disease she was born with.
“Teddi is doing absolutely brilliant! She is walking, running, a chatterbox, absolutely no signs so far of MLD,” said her mum.
“She is an absolute character and has everyone around her laughing all the time.”
The revolutionary gene therapy, known by its brand name Libmeldy, has a list price of £2.8 million.
It was the most expensive drug in the world when NHS England negotiated a significant confidential discount last year to make the treatment available to NHS patients.
Ally added: “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.”
The mum-of-two said they hope a treatment becomes available for all stages of MLD and added it should be added to the newborn screening test “to save more families from having to go through this heartache”.
The one-time treatment is available on the NHS as a specialist service and is being delivered within Royal Manchester Children’s Hospital.
It will be available to babies and young children with no clinical signs or symptoms of MLD, as well as those with early symptoms of the condition, so long as they can still walk independently and with no evidence of cognitive decline.
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.
“Thanks to advancements in gene therapies, and the commercial ability of the NHS to strike deals for cutting-edge drugs and then deliver them through our phenomenally skilled specialist staff, children born with this condition now have the opportunity to lead normal, healthy lives.
“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.”