First child to receive £2.8m gene therapy for MLD recovers
EXCLUSIVE: First child to receive £2.8m gene therapy for MLD recovers in medical miracle… but it’s all come too late for her sister
- Teddi Shaw is flourishing after months of stem cell injections and chemotherapy
- But the joy of watching her play is bittersweet for parents due to Nala’s condition
Running around the garden or bouncing on her trampoline, Teddi Shaw looks like any boisterous two-year-old. But the mere fact she can do any of that makes her a medical miracle.
A year ago she became the first person in this country to receive a life-saving gene therapy for the deadly childhood disease metachromatic leukodystrophy (MLD).
And after months of stem cell injections and chemotherapy at a specialist unit at the NHS’s Royal Manchester Children’s Hospital – the only site in the UK able to administer the £2.8 million treatment – there is no stopping the toddler as she makes up for lost time.
Yet as they watch her play, her parents’ joy is bittersweet – the reason Teddi’s condition was detected early and was treatable is because her sister, Nala, now four, has been struck down by the same disease. Sadly, in Nala’s case, the illness – in which the absence of a crucial gene causes fatty deposits to build up in the brain – was too far advanced for the treatment to be effective.
The doctors’ grim prognosis for Nala is that her mental and physical state will continue to deteriorate, and she is not expected to live beyond eight.
Teddi Shaw playing in the family garden. After months of stem cell injections and chemotherapy at a specialist unit at the NHS’s Royal Manchester Children’s Hospital – the only site in the UK able to administer the £2.8 million treatment – there is no stopping the toddler as she makes up for lost time
Teddi Shaw and sister Nala in February 2022. The reason Teddi’s condition was detected early and was treatable is because her sister, Nala, now four, has been struck down by the same disease
Teddi Shaw and sister Nala in August 2023. In Nala’s case, the illness – in which the absence of a crucial gene causes fatty deposits to build up in the brain – was too far advanced for the treatment to be effective. The doctors’ grim prognosis for Nala is that her mental and physical state will continue to deteriorate, and she is not expected to live beyond eight
The girls’ mother, Ally, 33, who lives with husband Jake, 30, in Northumberland, said: ‘It’s bittersweet for us. It’s a miracle to see how well Teddi is doing, she’s hitting all the milestones a normal two-year-old would, but we know that there is nothing that can be done to save Nala. It’s heartbreaking.’
She added: ‘Teddi has become Nala’s big sister, looking after her, bringing her toys and checking she’s OK. Nala still recognises her but she can’t walk or talk any more.’
Calls for heel-prick test to look for disease
The Shaw family, together with the Archangel MLD Trust, are now campaigning for a check for MLD to be added to the heel-prick test for newborns. The move would ensure children like Nala do not miss out on life-saving treatment.
The heel-prick test, carried out when babies are five days old, tests for nine serious health conditions, including sickle cell disease and cystic fibrosis.
The Archangel MLD Trust was established to support medical teams around the world who are working to help people with MLD.
Chairwoman Georgina Morton said: ‘We are extremely fortunate to have this gene therapy but most children are diagnosed when it’s too late to be effective.
‘Newborn screening is vital to save future lives. The UK Newborn Screening Programme desperately needs urgent revision to keep up with other Western countries, many of whom screen for considerably more diseases than we do, giving a more positive outcome for children affected by these conditions.
The Shaws explained that they took Nala to the doctor early last year because her right foot was turning inward. Ally said: ‘Nala had no symptoms other than the problems with her foot, but it started to get worse and affect her balance.
‘Last April they did tests and diagnosed her with MLD. Neither of us had heard of the condition before. As MLD is a genetic condition – caused by both parents carrying the faulty gene – they had to test Teddi. When the results came back that she had it, it was devastating.’
While doctors had good news for the Shaws, it came with an agonising sting in the tail.
There was a pioneering cure available for Teddi, called Libmeldy, which involved removing many of her stem cells and replacing the faulty gene in them, before killing her remaining stem cells with chemotherapy and injecting the treated cells back into her bone marrow. But it was too late for Nala, as the treatment must be administered before MLD has caused irreversible damage to sight, speech, hearing or movement.
Tragically, MLD isn’t diagnosed until symptoms begin to show, by which time it has advanced too far. Ally said: ‘Our world was turned upside down when both our daughters were diagnosed with MLD, but being told Nala wasn’t eligible for treatment and that she would lose all functions and die extremely young was the most heartbreaking thing to come to terms with. But there was hope for Teddi. Without this treatment, both our children would have been taken away.’
Teddi was the first child in the UK to receive the revolutionary gene therapy. She had her stem cells removed in several stages between June and October last year, which were then treated and re-injected into her body.
Ally said: ‘She is doing amazingly well. She actually took her first steps on the day of her transplant and she has carried on exceeding all the doctor’s expectations.
‘She can run and jump, and walks up steps. There is no stopping her.
‘It’s hard to say when her symptoms would have started if she hadn’t had the transplant, but most children start getting symptoms by the age of two. Teddi celebrated her second birthday in June, so it’s likely that she would have started to go downhill by now.
Teddi Shaw (left) with her sister Nala. The girls’ mother, Ally, 33, who lives with husband Jake, 30, in Northumberland, said: ‘It’s bittersweet for us. It’s a miracle to see how well Teddi is doing, she’s hitting all the milestones a normal two-year-old would, but we know that there is nothing that can be done to save Nala. It’s heartbreaking’
Ally said: ‘Our world was turned upside down when both our daughters were diagnosed with MLD’
Undated picture of Teddi Shaw. Teddi last week celebrated the first anniversary of her stem cell treatment and Nala marked her fourth birthday
Undated photo of Teddi Shaw. Teddy had her stem cells removed in several stages between June and October last year, which were then treated and re-injected into her body
Ally said: ‘Teddi has become Nala’s big sister, looking after her, bringing her toys and checking she’s OK. Nala still recognises her but she can’t walk or talk any more’
‘Instead, when you look at her, you wouldn’t realise that she had chemotherapy last year.
‘She has defied all the odds and smiled through. She’s an absolute character and has everyone around her laughing all the time.’
Tragically, Nala’s condition is already worsening. She can no longer get around or feed herself.
Teddi last week celebrated the first anniversary of her stem cell treatment and Nala marked her fourth birthday. Ally said: ‘We had a wonderful day celebrating.
‘We know the future will be very different for Nala, but it’s wonderful to see Teddi doing so well. It’s like a miracle.’
Rare condition affecting the siblings
MLD is a rare inherited condition and, though it only affects one in 40,000 children, it’s not unusual for two siblings to suffer from it.
When there is no family history of the condition, it is usually diagnosed through a combination of brain MRI scans and blood and urine tests, before genetic testing to identify the specific mutation. The child of a carrier has a 25 per cent chance of being affected.
There are various types of MLD, which is characterised by the toxic build-up of fatty materials in the nervous system’s cells, but all result in the sufferer eventually losing their ability to move and speak.
With the gene therapy, the patient’s stem cells are taken out and modified in the lab so they can produce a missing enzyme, then put back into the body.
The therapy, known by its brand name Libmeldy, costs £2.8 million and was the world’s most expensive medicine when NHS England negotiated a confidential discount with makers Orchard Therapeutics in 2021.
Source: Read Full Article