Lincolnshire girl is the second child treated on NHS with new life-saving gene therapy

A seven-year-old girl from Saxilby has become the second child to be treated on the NHS with a new life-saving gene therapy using the UK’s most expensive drug.

Sadly, her older brother’s condition had declined too much for him to be eligible for it.

Lucas Garvey, 10, was diagnosed with Metachromatic Leukodystrophy (MLD) in July last year, which is a rare, life-altering and life-limiting genetic condition.

It 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.

MLD is genetic and Lucas’ sister Penelope was eligible for the gene therapy. The one-off treatment, called Libmeldy, costs £2.875m and is the most expensive medicine ever approved for the NHS.

Their mum Michelle said the treatment is still incredibly new so the trial data is only around 10 years old.

In October last year, Penelope had her bone marrow harvested to get stem cells, which were then sent to Holland for gene therapy, where a working gene is inserted to produce the missing enzyme.

After testing, the gene-corrected stem cells were sent to Manchester to be infused back into Penelope in December last year.

Prior to the infusion, Penelope had to have chemotherapy to kill off the remaining faulty stems cells in her bone marrow.

During their time in hospital they met the parents of Teddi Shaw, who was diagnosed in time because her older sister Nala showed symptoms. Teddi was the first child to be treated by the NHS with the gene therapy, but it was too late to treat Nala, who is now terminally ill.

Penelope in early January after she was allowed out of hospital for the first time to get some fresh air outside.

Penelope spent over a month in hospital between December 5 last year and January 9, 2023 and is recovering at home and “doing well”, and her blood count and enzyme levels “are really good,” her mum said.

Michelle added that Penelope currently has to isolate at home as she is immunocompromised from the chemotherapy and will be returning to school at the end of March.

She told The Lincolnite: “Whilst it is rare, it is incredibly devastating. The earlier it is caught, the easier it is to be eligible for the gene therapy.

“The gene therapy is fantastic for families and because they can do it for this condition they will start to test for using it for other single gene diseases.

“I hope the cost will come down the more it’s able to be used, and the more the research can be used for other diseases. If it is added to the heel prick test, more diagnoses will be sooner so more will be eligible for the treatment.

“We have had lovely support from friends and family, but it helps to talk to people who know exactly what you are going through.”

Penelope’s dad Tim shaved his hair off so that she wouldn’t feel alone after her chemotherapy.

Whilst it is positive news for Penelope, her brother’s condition is deteriorating and Michelle said she “can’t describe how horrendous it is to get this diagnosis”. On Friday, February 17, the family have an appointment with palliative care to create a care plan for Lucas.

Michelle said: “Lucas’ mobility has declined over the past couple of months. His walking has slowed right down and his balance is causing him to fall more. It’s absolutely heart-breaking, our beautiful boy. Life can be so incredibly cruel.

“As soon as Penelope is able to go out properly, and be around lots of people, we will be trying to make the most of the time we have as a family of four. Experiences to be had and memories to be made.”

The Garvey family – Lucas, 10, mum and dad Michelle and Tim, and Penelope, 7.

She said since the first article about Lucas’ rare condition and the family’s fundraiser, he has been “struggling a lot more with walking” so they are looking at getting a frame to help him move around.

The fundraiser has so far raised over £9,700 which the family plan to put towards trips and making memories, as well as to fund specialist equipment for Lucas.

Michelle added: “We are incredibly grateful for the support from everybody. We didn’t except it to even reach £1,000, let alone more than that.

“We have not been able to go away and do anything yet. Penelope is still in recovery at home. It has been hard to focus on anything but what is right in front of us, but we want to do theme parks and take them to the beach.”

Penelope enjoyed helping with her observations at hospital and is pictured here doing checks on her mum.

Michelle would also like to see MLD added to the heel prick test that is given to babies, saying the only reason Penelope’s life was saved was due to her brother already having it, otherwise they may not have found out for longer. There are currently campaigns asking the NHS to add MLD screening to the heel prick test.

She would also like to thank the organisations the family have sought support from – MLD Support Association UK, ArchAngel MLD Trust, MPS Society, and The Leukodystrophy Charity. The MLD Support Association UK is hosting a family get-together for those with children with MLD at the end of March.

Penelope and her mum Michelle walking outside the hospital.

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