Joy as baby given NHS £1.8m life-saving drug

AMORAY baby has become the youngest child in Britain to be treated on the NHS with a potentially life-saving drug described as the world’s most expensive.

The one-off gene therapy is designed to prolong and transform the lives of children with spinal muscular atrophy, a rare condition.

The Royal Hospital for Children in Glasgow – so far the only Scottish centre allowed to administer the drug, Zolgensma – delivered the UK’s first dose to a baby in February and now doctors have confirmed a second baby, Isabella Winfield from Moray, has received her life-changing dose of the drug, which has a list price of £1.79 million.

Six-week-old Isabella is the youngest child in the UK to have Zolgensma and one of the youngest in the world. The baby, from Archiestown, was given the treatment at 20 days old on May 20, just a week after diagnosis and five days before five-month-old Arthur Morgan, who was revealed last week as the first baby in England to receive the therapy.

Until recent years, there were no treatment options available for little ones with spinal muscular atrophy (SMA). Most babies born with the condition do not survive their first year.

The emergence around four years ago of the drug Nusinersen helped prolong life, but Zolgensma – given in a one-off dose, ideally within the first six months of birth and potentially with no need for further treatment – is, according to specialists, a game changer with the potential to allow babies to sit, crawl and walk.

Isabella has the most severe form of the degenerative illness – Type 1 SMA – that weakens muscles and causes breathing difficulties. Doctors see only about three cases of SMA1 each year in Scotland.

Her parents, IT trainer Richard Winfield, 36, and

35-year-old translator Margaret Paluszynska, told of their joy, disbelief and gratitude.

Richard said: “We knew it would be a race against time to get the treatment to her. There are a number of things that need to be cleared before a child can qualify for Zolgensma. And without this treatment, or at least Nusinersen, babies with such a severe case of SMA don’t live long. We didn’t even want to think what she’d be going through without help.”

Margaret added: “I was thinking how the hell will we find the money to get Zolgensma to her in time before she deteriorates too far? I didn’t realise when doctors gave us the diagnosis that we would actually be able to get the treatment straight away. It was mind-blowing how

prepared the medical teams were. It was thanks to them that it could be administered within such a short time. And I was even more amazed it was available in Scotland on the NHS, knowing what the costs are and how hard it is to obtain.”

Dr Iain Horrocks, the paediatric neurologist who leads the team at the Glasgow children’s hospital, said: “We have treated two babies in Scotland so far, the first at the end of February this year. That baby’s parents are happy for me to say their child is doing really well.”

Dr Horrocks said the younger babies are, the better they respond to the therapy. “Isabella glided through her treatment,” he said. “Because she was so young, she was the perfect candidate for it. We should

see some real improvements with her in the next couple of months. It is amazing we can treat these children in Scotland, and long may it continue.

“There are 1,200 children in the world treated for this condition with this drug, but almost all of those are in drug trials.”

He added: “Zolgensma is a wonder drug. It is a true gene therapy. We replace the gene and no further treatment is potentially needed. Nusinersen is a chemical, it’s not the same.”

Zolgensma was made available on the NHS after the health service struck a deal with manufacturers Novartis Gene Therapies. The Scottish Medicines Consortium approved its use in the same month. It is the first gene therapy to be accepted by the SMC for use by the NHS in Scotland.

England has four sites around the country from which Zolgensma can be administered.

Dr Horrocks said Northern Ireland’s first patient was treated in Belfast two weeks ago and the therapy has yet to be given in Wales.

Margaret – who is backing doctors’ calls for routine screening for SMA – has a family history of the condition but had not thought her child would be affected because there was no history of it on her partner’s side.

She explained: “For SMA to manifest, it needs two carriers of the recessive gene or in extremely rare cases a mutation to occur in one parent.”

Their lives since Isabella’s birth at Dr Gray’s Hospital in Elgin have been an “exhausting rollercoaster”.

LIFE IS PRECIOUS: Parents Margaret Paluszynska and Richard Winfield with baby Isabella, who was born in April.