Baby Isabella Winfield chuckles as she topples her new toy bricks, a present from mum and dad on her first birthday.
With the celebratory cake cut and pictures of the special day captured on camera, it could be a scene from any loving family home anywhere, but Isabella’s first birthday yesterday was extra special. It is a day she might never have lived to see and it was made possible by a £1.79 million single dose drug that has not only saved her life, but enabled her to mark major developmental milestones.
Isabella was born last April 30 with the most severe form of the rare condition spinal muscular atrophy – a muscle-weakening illness – and was 20 days old when the drug was administered on May 20, just a week after diagnosis.
She was the youngest child in the UK to be given the drug and among the youngest in the world. Five days later, five-month-old Arthur Morgan became the first baby in England to receive the drug, Zolgensma.
In June, we told how Isabella had received the single-dose treatment with a list price of £1.79 million and revealed the hopes of doctors and her family that it would transform the life of the little girl. She has Type 1 SMA, a degenerative illness that occurs in only three cases each year in Scotland and causes a range of life-shortening health issues, including breathing difficulties.
At Christmas, we told how the wonder drug has enabled the baby girl to reach landmarks her parents – translator Margaret, 36, and IT trainer Richard, 37 – never dreamed possible. Speaking from the family’s home in Archiestown, Moray, Isabella’s mum, Margaret Paluszynska, said: “Isabella is doing great. She has already gone above the average on the statistics her doctors have for children that have had Zolgensma treatment. She is a clever little girl who is physically better and stronger at doing things now. She is exactly where the doctors would have wanted her to be. She has gained a lot of mobility in her upper body and for the first time she can lift her legs independently if she is lying on her back.
“At Christmas, she could only do this in the bath where the water bore her weight. She can hold her head up for longer now than she could a few months ago and turn it quite quickly.
Before when she would lift her head, it would flop back on her chest. And she is able to sit in a normal position on the floor now. Isabella has more of the mobility of a child without SMA at six months of age. None of this mobility would have been possible without modern medicine.”
Dad Richard Winfield explained: “If Isabella hadn’t had the Zolgensma when she did, at this stage of her life she would almost certainly have been on constant ventilation and feeding through a tube. The drug means she hasn’t degraded to a point where we need all these extra help systems.”
While she has yet to stand, Margaret said: “Isabella would have had no improvement from a developmental point of view without this treatment. She would have been on life support. There is no guarantee she would have even seen this birthday. This is such a happy day.”
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