A wonder drug has made “instant changes” to a baby born with a rare degenerative condition.
Isabella Winfield, from Moray, was diagnosed with muscle-weakening, life-threatening spinal muscular atrophy (SPA) when she was just a few days old.
But two-and-a-half weeks later, she became the youngest British recipient of Zolgensma, a drug which has just recently been made available on the NHS.
The one-off therapy should allow Isabella to develop normal strength over the next few years – and her parents have already seen big improvements.
“The doctor was keen that we hedged our bets and stressed that we might see improvement,” said dad Richard Winfield. “But the changes were almost instant.”
Isabella’s mum Margaret Paluszynska knew immediately that something was wrong with her baby because the same condition had affected a relative.
She said: “The midwife thought she was too quiet, too floppy and that she had very low muscle tone.
“In my cousin’s family there is a case of SMA in a little girl, so I mentioned that to the doctor.”
The single dose of Zolgensma – costing £1.8m – was given when Isabella was just 20 days old and her paediatric neurologist now wants routine SMA screening for newborns to speed up diagnoses, which often take months.
Dr Iain Horrocks, from the Royal Hospital for Children in Glasgow, said: “We could then get to babies as early as Isabella and make a huge difference.”
Typical symptoms of spinal muscular atrophy
- Floppy or weak arms and legs
- Movement problems – such as difficulty sitting up, crawling or walking
- Twitching or shaking muscles
- Bone and joint problems – such as an unusually curved spine
- Swallowing problems
- Breathing difficulties
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