‘World’s most expensive drug is helping our baby develop in ways we didn’t think possible’

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Little Isabella Winfield, who will celebrate her first Christmas with her family, has spinal muscular atrophy (SMA), which can be fatal without treatment

Margaret and Richard Winfield with baby Isabella, who has Spinal Muscular Atrophy (SMA)
Margaret and Richard Winfield with baby Isabella, who has Spinal Muscular Atrophy (SMA)

The parents of a baby girl with a rare muscle-weakening condition say a £1.8m wonderdrug has heled her to develop in ways they never thought possible.

Little Isabella Winfield, who will celebrate her first Christmas with her family, has spinal muscular atrophy (SMA), which can be fatal without treatment.

In May the infant from Archiestown in north east Scotland received a single dose of Zolgensma, the world’s most expensive drug, when she was just 20 days old.

Delighted mum Margaret Paluszynska, 35, a translator, said: “Isabella is doing great overall. Her hands are pretty much what you’d expect at this age.

“She has full movement on reach and grab. She can self-feed with a baby spoon and steals food from our plates if she can.

“Her right hand is slightly stronger than the left but she is pretty proficient with anything within reach, or just out of reach.

Isabella was just 20 days old when she was given the drug

“She can’t roll herself over to reach something yet but she can sit with help, and she is able to hold herself and her head upright until she gets very tired. She is a cheeky little creature who smiles and laughs and plays with her toys and loves to chatter.”

Cuddling up beside the Christmas tree with little Isabella – who has Type 1 SMA, a degenerative illness that weakens muscles, causes breathing difficulties and occurs in only three cases each year in Scotland – her parents described how the wonder drug has enabled their precious daughter to reach landmarks they could never have dreamed possible.

The infant is able to do things her parents never expected if her condition was untreated
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NEWSLINE MEDIA LIMITED)

Isabella was just days old when she was diagnosed with the rare condition
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NEWSLINE MEDIA LIMITED)

Dad Richard Winfield, 36, an IT trainer said: “Her grandparents have tried to teach her the xylophone. My dad put the mallet in her hand, and once she had figured out you use it to hit the xylophone and make the sound, she was whacking away at it quite merrily.”

Isabella is one of only two infants born in Scotland to be treated on the NHS with potentially life-saving Zolgensma, described as the world’s most expensive drug.

Zolgensma has been described as the world’s most expensive drug
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Glasgow’s Royal Hospital for Children gave the first UK dose to a baby in February and how, soon after, Isabella became the second to receive the single-dose treatment with a list price of £1.79 million.

She was 20 days old when it was administered on May 20, just a week after diagnosis and five days before five-month-old Arthur Morgan, who was the first baby in England to receive the therapy, making her the youngest child in the UK to have Zolgensma and among the youngest in the world.

But until recent years there were no treatment options available for little ones with SMA. Most babies born with the condition do not survive their second year.

The emergence about four years ago of the drug nusinersen helped prolong life, but Zolgensrna — 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.

Margaret hopes her little girl will continue to make good progress but says the priority is enjoying her first Christmas: “She is so little she won’t understand Christmas just yet. Mummy and daddy know it’s Christmas but for her it’s just another day. We’re not really planning anything too big.

Arthur Morgan was the first baby to be given teh drug in England
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“She is still at the stage where she likes her sensory and newborn toys and likes anything that makes a sound or has texture. She has a squeaky lamb she loves and likes a little piano that I bought that has a touchpad that makes a noise. It is for little ones aged one year plus but she can tap the keys and make some sound.

“She is definitely musical and reacts to music well. And she can hold a book and turn the pages. She is going to be a musical reader. She is a bright little thing.”

Margaret, who carries out muscle-strengthening exercises with her daughter during play sessions, added: “Isabella is still a little weak with full anti-gravity movements but she can hold her leg up to some degree, if I lift it. ln the bath, she is able to lift her leg from her hip and lift both legs over the level of the water because the buoyancy helps.

“She still has a good chance of developing the strength in her muscles and even support her own body weight and walk too. We have to wait and see whether it will be just small distances at home or whether she will be able to walk independently but there is still the hope of that.

“Children with SMA that didn’t have Zolgensma as early as Isabella don’t have any chance of mobility.

The other cases from America that do have mobility are those who were roughly the same age as Isabella when they had the treatment.

“Normally with SMA Type 1 you don’t even dream of mobility. You hope your child will be independently able to have basic life functions. You are just grateful your child is alive.

“The level of mobility Isabella has already, in the natural course of the condition, would never happen.

“Two-thirds of children with her condition and without treatment wouldn’t make it to age two. Without treatment it is lethal.”

And it hasn’t been all plain sailing for little Isabella. Earlier this year she was admitted to hospital for a sleep study assessment that monitors breathing and oxygen levels in the blood.

It concluded she was having difficulty breathing at night and needed a non-invasive ventilator at home called a BiPAP[Bi-levelPositiveAirwayPressure)[Bi-levelPositiveAirwayPressure)

Margaret said: “I did expect at some point we might need it but I didn’t expect it to be this early. The doctors said it was quite common because in deepest REM sleep the body is at its weakest.

“During the day she looks fine and she can cry and cough. But that subtle phase, where the body switches to deep sleep at night, is difficult.

“It is not uncommon for healthy people to have breathing problems in deep sleep and children with other conditions – not just SMA – are on ventilators for weak breathing during the night.

“Isabella has a little mask that fits over her nose to regulate her breathing. It is hard to say how long she will need it. It depends how she develops. The hospital will do a follow-up study every so often. The next check-up will be in March.”

Dr Iain Horrocks, the paediatric neurologist who leads the 10-strong team at the Royal Hospital for Children in Glasgow, said: “We are pleased in Isabella’s progress over the past five months since gene therapy treatment.

“This journey with her family and the improvements we have all been witnessing have been a delight to be part of. We are really pleased with her motor development and expect with the respiratory support she has just commenced to see some lovely improvement here too.”

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George Holan

George Holan is chief editor at Plainsmen Post and has articles published in many notable publications in the last decade.

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