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VIDEO: Brave Sam keeps smiling as he battles rare condition

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HAPPILY clutching his iPad, Sam Smith is like any other computer-mad youngster.

However, he has already overcome more challenges in his early years than most will face in a lifetime.

Sam, seven, was born with a little known condition called 22q11 Deletion Syndrome, which affected his chromosomes and left him with a host of medical problems.

Despite needing 13 operations, being blind in one eye, and having learning difficulties, Sam’s parents Sally and Tony are delighted with the medical help their son has received and want more people to know about the syndrome.

Sally, 40, from Holder House, South Shields, said: “Sam has been through an awful lot, and he has tough times to face in the future.

“But, at the end of the day, he’s here with us and that’s down to the fantastic care he’s received from so many dedicated medical professionals, who we can’t thank enough.

“While Sam has had it hard, he’s also a happy and energetic little boy, and we want people to see that although he has this syndrome, it’s not all doom and gloom.”

At just one week old, Sam underwent three operations at Newcastle’s Royal Victoria Infirmary and was fitted with a colostomy bag, as his bowels hadn’t formed as normal.

During this time, medics also discovered he had multiple holes in his heart, was blind in his right eye, and due to a low blood supply his kidneys ended up being scarred – meaning he may need a transplant later in life.

Tony, a theatre nurse, said: “We got to take him home when he was about three months old, but he had massive problems eating.

“Even just a few drops of milk would take hours for him to digest, and if he was even slightly moved, he’d be sick.

“So, although he’s a good little eater now, he had a line put into his stomach so he could be fed. We still use this now for his medicines and for when he gets too poorly to eat.”

Sam, a Bamburgh School pupil, also has an antegrade colonic enema (stoma) instead of his original colostomy bag, which his parents have to flush through daily with water so his body can get rid of waste.

It wasn’t until their son was seven months old, and after three rounds of genetic testing, Sally and Tony discovered Sam had the syndrome, which is also known as DiGeorge syndrome.

Although it affects one in 6,000 children and there are 180 conditions which it can affect, most people haven’t heard of the condition.

Sally, who is also mum to Jacob, 13, Matthew, eight, and Isabel, two, said: “Considering it’s the second most common chromosome disorder after Down’s Syndrome, most people don’t know about it.”

The family are grateful to the Max Appeal, a charity which raises awareness and supports the affected.

Sally said: “The charity is really good. It has put us in contact with other families in the area who we’ve met up with.

She added: “Sam’s doing really well. In fact, he’s a computer whizz. He’s always managing to hack through passwords and settings and getting up to mischief. He loves technology.”

Twitter: @ShieldsGazVez

 

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