Express & Star

Dudley girl whose family were told she wouldn't live to two defies the odds on 21st birthday

A "miracle" Black Country girl with a rare metabolic condition has celebrated a milestone 21st birthday despite doctors' predictions that she wouldn't live past 18 months.

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Shannon pictured with mum, Kerrie, and dad, Lee, celebrating her 21st birthday

Shannon Mason, from Kingswinford, is the only person in the UK living with fumarase deficiency, which affects the brain and parts of the nervous system and results in frequent seizures.

Despite a grave warning from doctors that she wouldn't live to see her second birthday, animal-lover Shannon has defied all odds and celebrated her 21st birthday on April 1 with a trip to the West Midland Safari Park.

Lee Mason, Shannon's dad and full-time carer, said: "We just feel pure pride to see everything she's been through in her life, all the hard times. She always bounces back and just loves life – she's just our miracle.

"You can see the fight and the will in her. She had a horrible seizure in 2009 that lasted two and a half hours and ended up in intensive care. They even had an anaesthetist come and put her to rest and she was on a life-support machine.

"We were in bits obviously and they told us she would be in critical care at the Birmingham Children's Hospital, so we got there and as they were talking to us she just woke up and ripped the tubes out of her own throat – that's the fight that's within her."

The Mason family of Kingswinford

Shannon takes a host of medicines on a daily basis to help with her condition, with mum, Kerrie, sleeping by her side every night.

The 38-year-old mum-of-three added: "Her seizures are unpredictable, in a week she could have 14 - it's literally unpredictable – they stop her doing everything she wants to do.

"Doctors said people with this condition don't normally live past 18 months and that we could expect the worst, but then they found out Shannon was unique because she is the only case ever known with the mutation of the gene and they told us to take every day as it comes.

"They are amazed as we are that Shannon is doing so well and trying to prove this condition wrong, it gives us the determination to fight with her."

What is fumarase deficiency?

  • The disorder is caused by mutations in the fumarate hydratase gene

  • It affects the brain and nervous system, affecting intellectual and neurological development

  • It is exceedingly rare – in the year 1990 there had reportedly only been 13 cases identified worldwide

  • Many people with the condition are unable to speak or walk