A mum whose son has a rare genetic syndrome has shared their story to raise awareness of the condition.
Tyler Tombs was born with Williams syndrome, which is caused by the deletion of genes on the seventh chromosome.
To coincide with Jeans for Genes day on Friday, Tyler will be taking on 24 rounds of kickboxing, each with a different opponent, at the Bar Gym in Bath Place, Worthing on Saturday night to raise money for the Williams Syndrome Foundation.
The 14-year-old has a range of physical and learning disabilities, but also is very social and loves interacting with people – a key feature of the condition.
His mother Sophie Robinson said: “It is almost like he produces too much of what causes us to love.
“If you could bottle what Tyler has and sell it, you would make millions.”
The symptoms of his condition include a curved spine, low muscle tone and flat-footedness, which means he can’t stand for long periods of time. He receives physical therapy at the children’s centre in Worthing Hospital.
He also has a heart murmur, and it is common for people with the syndrome to have heart problems.
People with the condition have similar facial features, learning difficulties and slow development. It is also hard to diagnose – which meant Tyler only discovered his condition two years ago after a blood test.
Sophie said she knew Tyler was different while she was pregnant, as scans showed his development was abnormal.
The 33-year-old described Tyler’s birth as ‘traumatic’, as he had to be resuscitated and had pneumonia, jaundice and a Strep B infection.
As a child, Tyler had a slew of tests for conditions including cystic fibrosis which came back negative, so Sophie decided to stop until he was older and she could explain what a blood test was to him.
She said: “When we first started going to the hospital and they couldn’t work out what was wrong with Tyler, they told me he probably will never walk.
“One doctor even said to me: ‘don’t expect much from him, will you’. Those words will stick with me forever, and I think you know what? Look at him now.”
Tyler learnt how to walk when he was six, and could only eat pureed food until he was five, because textures made him feel sick. He is now home-schooled, having been taught at Herons Dale Primary School in Shoreham up until Year Six.
Sophie decided to teach him herself so he could ‘see more of the world’, and said he is a hit with supermarket staff and people wherever he goes due to his social personality, describing him as a ‘ladies’ man’.
Other social quirks of the condition include having obsessions – and in Tyler’s case, it is DVDs. He has thousands at his home in Upper Beeding, and Sophie said his favourite place to go is HMV. He said his current favourite is the TV series Hawaii Five-0.
By going to the Bar Gym, which Sophie works at, it has helped Tyler meet new people and improved his anxiety, as well as improving his fitness.
Sophie wanted to share her and Tyler’s story to dispel the stigma around speaking about disability.
“There is nothing to be afraid of. When someone is talking to you, particularly I find other mums, children ask questions and they shush them – but it is perfectly natural and they should be addressed. A child asked why Tyler’s voice is so deep and it is normal; it is just facts.
“I would much rather somone come up to me and ask questions about Tyler than ‘shush shush’.”