A TOT with a rare muscle-wasting disease has crawled for the first time – stunning medics who said she would be confined to a wheelchair for life.
Little Willow Christie, three, has raised her parents’ hopes that she will one day walk following her amazing breakthrough.
Little Willow Christie, three, has managed to crawl on her own
Tom FarmerLorna and Lee with their baby girl Willow[/caption]
Tom FarmerDoctors thought Willow would be confined to a wheelchair for life[/caption]
The toddler was diagnosed with spinal muscular atrophy aged 14 months.
This also affects her breathing so much that even a common cold could be fatal.
Mum Lorna, 35, and dad Lee, 41, were distraught when medics said she would never take her first steps or crawl.
But they were overjoyed when the plucky youngster started crawling on her own.
Lorna, of Irvine, Ayrshire, said: “She amazes us every day.
“The doctors said they have never seen anyone with SMA do this so it just gives us so much hope for the future.
To know a simple blood test could have changed the course of her life is upsetting
Lorna
“When she was first diagnosed I thought that she would always be in a wheelchair but she is proving everyone wrong every day.
“I honestly feel like she will one day walk on her own.”
We told how Lorna is calling for routine screening after being told Willow could have had a chance at a normal life had her SMA been detected at birth.
A blood test can pick up the condition in babies, who are then given “miracle” drug Zolgensma which stops it in its tracks.
Lorna added: “That’s hard for us to accept.
“To know a simple blood test could have changed the course of her life is upsetting.”
She spotted Willow’s symptoms at 14 months because SMA claimed a nephew’s life in 2012.
What is SMA?
SPINAL muscular atrophy (SMA) is a genetic condition that makes the muscles weaker and causes problems with movement.
It’s a serious condition that gets worse over time, but there are treatments to help manage the symptoms. These include:
floppy or weak arms and legs
movement problems – such as difficulty sitting up, crawling or walking
twitching or shaking muscles (tremors)
bone and joint problems – such as an unusually curved spine (scoliosis)
swallowing problems
breathing difficulties
SMA does not affect intelligence or cause learning disabilities. Speak to a GP if you’re planning a pregnancy and:
you’ve had a child with SMA before
you have a history of the condition in your family
your partner has a history of the condition in their family
It is estimated one in 40 people are carriers of the rare condition.
Both Lorna and Lee carry the gene.
She said: “I was telling the doctors but they didn’t seem to know an awful lot about it.”
Now, they are backing campaigners Spinal Muscular Atrophy UK, who are urging the Scottish Government to introduce SMA screening for newborns.
Lorna added: “We can’t understand why it isn’t routinely tested for.”
Tom FarmerThe toddler was diagnosed with spinal muscular atrophy aged 14 months[/caption]