A TODDLER from Morecambe has a genetic disorder so rare that only 58 people in the world have been diagnosed with it in the past century.
Amy Wilby, two, from Kensington Road, suffers from Brown-Vialetto-Van Laere syndrome (BVVL), a rare, progressive, motor neurone disorder sometimes referred to as “bulbar palsy”.
Her mum Emma, 24, a single parent, said: “It was Amy's consultant who said: “It was Amy’s consultant who saved her life – she was the one who listened.
“They wouldn’t have thought of testing for a rare genetic disorder.”
Amy started suffering noisy breathing last April and was at first diagnosed with asthma and croup but then had to be rushed to hospital several times after turning blue.
She was eventually transferred to Manchester Children’s Hospital where it was discovered that some of her airway was blocked.
See The Visitor (23-02-11) for full story.