One sister was saved by the priciest medicine available in the UK, but it was too late for the other

Christmastime with Nala and Teddi

The first child to receive new, life-saving gene therapy from the NHS is a toddler with a rare inherited condition.

The symptoms of Teddi Shaw's older sister Nala led to a timely diagnosis, but it was too late to treat Nala, who is now terminally ill.

MLD, which causes significant brain and nervous system damage, affects both girls.

The $2 point 875 million one-time procedure is the most expensive drug ever given NHS approval.

Teddi's treatment was followed over several months exclusively for the BBC, which also conducted interviews with other MLD-affected families.

Imagine having two daughters who each have a fatal genetic disorder, but only one of them can be saved. .

Nala, who is three years old, and Teddi, who is 19 months old, both suffer from MLD, or metachromatic leukodystrophy. .

Children with this fatal genetic disorder appear healthy at birth, but MLD gradually damages the body and brain.

Nala was a perfectly healthy toddler prior to getting sick.

Her father, Jake, describes her as being "just a cheeky little girl" who was constantly singing, dancing, and spinning around.

However, Nala began to trip more frequently and her gait gradually became uneven a little over a year ago. She also appeared to be trembling.

Jake, 29, and Ally, her parents, grew more concerned. Nala had a brain tumor, in Ally's opinion.

At first, doctors assured them that everything was fine. However, in April of last year, Jake and Ally brought Nala to A&E where she underwent an MRI. They received a likely diagnosis 45 minutes later. .

I nearly did cartwheels out of excitement when the doctor told me it wasn't a brain tumor, Ally recalls.

She was relieved until the doctor mentioned metachromatic leukodystrophy, a condition they had never heard of. Jake looked up the phrase on Google after she left. According to Ally, "I could tell by his face that it wasn't good news.".

Children with MLD are unable to produce the protein known as ARSA, an essential enzyme that aids in the body's metabolism because MLD is brought on by a defective gene.

Sulfatides, which are fatty chemicals, consequently accumulate. These cause a devastating deterioration by slowly destroying the barrier that surrounds brain and nervous system cells. Kids eventually lose the ability to see or hear, as well as to walk, talk, and eat.

They were informed that Teddi, the younger sister of Nala, had a one-in-four chance of also having MLD because Ally and Jake carry the problematic gene.

Jake explains, "I told myself, it can't happen again, we can't be that unlucky.". "It was just heartbreaking when we found out. ".

Medicinal Sweet Bitterness.

a cutting-edge therapy that transforms a fatal diagnosis into optimism for a healthy life.

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However, 10-month-old Teddi had reason for optimism. She was the first person on the NHS to receive the life-saving gene therapy Libmeldy, which must be administered before the disease has caused irreversible damage. Because the disease hadn't yet affected her, she was able to receive treatment.

The discovery of Nala's MLD came too late to allow for treatment. She requires tube feeding and is already unable to walk or talk.

Because Nala cannot be helped, it was somewhat difficult for Ally and I to accept the news that Teddi could receive treatment.

She claims that they are simultaneously "extremely grateful" and sad.

"I've always said that Teddi's life was saved by Nala. Jake says, "And that's how I wanted to think about it.

Ally Shaw with Teddi in Royal Manchester Children's Hospital
Teddi's stem cells are taken while Ally observes.

To fix the malfunctioning gene, Libmeldy involves making changes to the patient's own cells. Teddi was connected to a device in June 2022 at the Royal Manchester Children's Hospital where blood was drawn and filtered in order to gather a single bag of stem cells. Dialysis-like visuals describe the procedure.

The stem cells were then transported to Milan, where researchers used a non-lethal virus to re-introduce Teddi's defective gene, which is responsible for producing her missing enzyme, into the stem cells. Once in Manchester, Teddi would receive an infusion of the gene-corrected stem cells.

How the treatment works

While Jake, a carpenter, was at home in Northumberland caring for Nala, Teddi and her mother moved into the hospital for the duration of the treatment.

Teddi had to undergo chemotherapy to eliminate the final faulty stem cells in her bone marrow before she could receive the replacement cells.

We were back in Manchester in August to see Teddi receive Libmeldy.

Teddi, who was 14 months old at the time, decided to make her first hesitant steps that day in her hospital room. According to mom Ally, her younger daughter was handling everything well.

Considering everything she has been through, she is doing fantastic, Ally told us. She is still the same, silly little thing she always is. ".

It took under an hour to administer Libmeldy. The gene-altered cells moved to Teddi's bone marrow over the course of the next few days and started producing the enzyme she had been born without.

It is remarkable that this is a one-time procedure with the expectation that it will permanently cure MLD.

British business Orchard Therapeutics created the drug Libmeldy. Bobby Gaspar, the company's CEO and co-founder, spent many years serving as a consultant at Great Ormond Street Hospital while conducting research on potential treatments.

He adds that it was "a very long journey to develop a medicine like this" and that "bringing a new medicine to the world that can potentially cure these devastating diseases is incredibly rewarding.".

The first human trials for Libmeldy were conducted in 2010, after nearly 20 years of development. It is now accessible through the NHS after receiving EU approval in December 2020.

Libmeldy is a game-changer, according to doctors who specialize in treating MLD. .

One of the consultants working on Teddi's treatment, Prof. Simon Jones, calls this a real breakthrough. .

"Families with this condition have had almost nothing from us for decades. We have the chance to live a full, healthy life rather than suffering from terrible neurodegenerative disease for many years. ".

It is now even more crucial to identify the illness early on because there is a treatment.

The parents of Teddi, along with other MLD families and the medical professionals who care for them, are pushing for the condition to be screened for at birth. A heel-prick blood test is administered to infants in the UK to screen for nine genetic diseases, including cystic fibrosis; MLD is not currently included in this test.

Because these fatal diseases are so easily preventable if detected at birth, Dr. Gaspar claims that by failing to screen for them, we are failing our children.

The Shaw family - Nala, Jake, Teddi and Ally - at home in Northumberland
The Shaw family in their Northumberland home: Ally, Teddi, Jake, and Nala.

Libmeldy—is it a remedy?

It is still too early to tell, but things are looking up. Before Libmeldy was approved as a treatment, it was tested in clinical trials on kids from the UK in Milan.

In 2014, Italy was the location of 12-year-old Joe Elson's gene therapy. After nine years, he is fully healthy and performing well in school. It is difficult to believe that Joe was born with a fatal illness as one watches Joe fly his kite on a beach in Kent. His MLD seems to have a long-lasting solution thanks to Libmeldy.

"It has given him back his life. His mother, Nicola, says that he makes the most of every opportunity.

Joe flying a kite
In 2014, Joe Elson underwent MLD gene therapy.

Only after his older sister Connie was diagnosed with MLD was Joe's condition discovered. She expired last summer. 13-year-old Connie was no longer able to walk, talk, eat, or hold her head up, according to Nicola. In addition, she was no longer able to see, hear, or smile.

She claims that the condition "steals these children away" is the worst possible.   .

Joe reading to his older sister Connie
Joe reads to his sister Connie, who is older.

In the UK, only seven to eight kids per year are anticipated to be Libmeldy eligible. That's because MLD is uncommon and frequently not detected early enough.

One of the most clinically effective medications ever evaluated by the health assessment body NICE, according to Libmeldy. Additionally, NHS England has negotiated a confidential discount despite the product's £2.875m list price. .

The cost of creating and manufacturing the drug is one factor in the price tag's high cost. The cost of treating children with MLD as they gradually lose all their senses, become completely dependent, and are tube-fed must be weighed against the price the NHS paid for this one-time treatment. The suffering that patients and their families experience is another factor.

Libmeldy is a ground-breaking therapy that offers "a huge moment of hope" for parents and kids with MLD, according to Amanda Pritchard, chief executive of the NHS.

She explains, "It means that kids like Teddi can do the things that all kids should be able to do, like go to school and play with friends.

Teddi continues to grow stronger at home in Northumberland.

But seeing her with her older sister Nala emphasizes how harsh Jake and Ally's situation really is. Jake describes Teddi receiving Libmeldy as "an absolute blessing," but Nala's quick decline is "absolutely heartbreaking.".

"Her body is essentially slowly shutting down, and she will lose the majority of her senses. Thus, it will eventually reach a point where she has nothing left to lose, according to Jake.

Because your child is vanishing practically before your eyes, Ally says, "you feel like you're grieving from the very beginning.".

The Shaw family is aware that Nala might have been treated if she had received a diagnosis earlier rather than developing a terminal illness.

Ally and Nala
Nala must now be tube-fed.

Jake, a guitarist, wrote the song "Lay You Down Easy" for his daughter in the hopes that it will spread awareness of the condition. All proceeds will go to the MLD Support Association.

Despite the fact that MLD is not currently screened for at birth in the UK, small pilot studies to screen newborns have started in five nations, including Germany, where testing has revealed the first patient with the condition.

A pilot project offering whole genome sequencing to 100,000 newborns will be launched by Genomics England later this year. MLD may be screened for among the 200 treatable conditions that are included in this.

Could this method be applied to other rare diseases?

Yes is the obvious response. Two additional gene therapies for Sanfilippo and Hunter syndromes are being tested at Royal Manchester Children's Hospital.

Prof. Rob Wynn, director of the Paediatric Bone Marrow Transplant Program, claims that many of his young transplant patients have genetic diseases and that the use of gene-modified stem cells to treat these conditions will be "transformative.".

The routine screening of newborns for MLD, according to Nala's parents, would be a fitting tribute to her.

If another child were born with MLD, I'd like to think that it could be detected quickly enough to save them, says Ally.

Nicki Stiastny contributed more to this report.

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