A toddler with a rare inherited condition has become the first child to be treated by the NHS with a new life-saving gene therapy.
Teddi Shaw was diagnosed in time because her older sister Nala showed symptoms – but it was too late to treat Nala, who is now terminally ill.
Both girls have MLD, which severely damages the brain and nervous system.
The one-off treatment, called Libmeldy, costs £2.875m and is the most expensive medicine ever approved for the NHS.
The BBC was given exclusive access to follow Teddi’s treatment over several months and spoke to other families affected by MLD.
Imagine having two daughters with a devastating genetic condition – but only one can be saved.
Three-year-old Nala – and Teddi, who is 19 months old – both have MLD, metachromatic leukodystrophy.
Children with this fatal genetic disease are born apparently healthy, but MLD gradually attacks the brain and body.
Before Nala became ill, she was a completely normal toddler.
“She was always singing, dancing and spinning around everywhere, always laughing – just a cheeky little girl,” says her dad, Jake.
But just over a year ago, Nala’s walking gradually became uneven and she started falling over more often. She was also showing signs of a tremor.
Her parents Ally, 32, and Jake, 29, became increasingly concerned. Ally was convinced Nala had a brain tumour.
Initially, doctors reassured them nothing was wrong. But then, in April last year, Jake and Ally took Nala to A&E where she had an MRI scan. Forty-five minutes later they had a likely diagnosis.
“When the doctor said ‘It’s not a brain tumour,’ I was doing cartwheels almost, so excited,” Ally says.
But her relief evaporated when the doctor mentioned metachromatic leukodystrophy – which they had never heard of before. When she left the room, Jake Googled the term. “I could tell by his face it wasn’t good news,” says Ally.
What is metachromatic leukodystrophy (MLD)?
MLD is caused by a faulty gene which means children affected cannot produce an important enzyme called ARSA – a protein that helps the body’s metabolism work.
As a result, fatty chemicals called sulfatides build up. These gradually destroy the protective layer around cells in the brain and nervous system, leading to a devastating deterioration. Children lose the ability to walk, talk or eat – and eventually to see or hear.
Because both Ally and Jake are carriers of the faulty gene, they were told Nala’s younger sister Teddi had a one-in-four chance of also having MLD.
“I thought to myself, it can’t happen again, we can’t be that unlucky,” says Jake. “When we found out, it was just heart-breaking.”