Two of a kind

Both diagnosed with the same rare condition

To say it came as a shock is an understatement…

‘Your son has Stickler syndrome,’ a doctor said.

It was 1992, and I’d just had my only child Colin. The doctor said the rare condition affects the body’s collagen.

It causes joint hypermobility, hearing and sight loss, chronic fatigue, osteoarthritis… The list went on and on.

There’s no known cure, and it’s progressive. I was devastated.

‘Stickler syndrome’s genetic – but you’d know all about that,’ the doctor said. ‘What do you mean?’ I asked. ‘You have it too, right?’ he asked me.

My mind was racing. I’d always had poor vision and hearing, and I suffered from weak, achy joints.

But it’d never even occurred to me I might have a rare condition.

Tests confirmed I had Stickler syndrome, but mine was milder than Colin’s.

It was a shock, but I just got on with things like I always had.

As time went on, Colin’s symptoms became worse. And, at 6, he needed hearing aids.

The following year, he had his first op to restructure his jaw. The condition caused his lower jaw to be shorter. He was so brave, though. ‘I’ll be fine, Mummy,’ he said. Colin amazed me with his resilience. He took it all in his stride.

As his eyesight was poor, he needed very strong specs. My own eyesight was failing and, by 2002, I was registered blind.

I had tunnel vision in one eye and very limited vision in the other.

‘You might be like me one day,’ I told Colin, then 10.

‘That’s OK, I’ll just get a guide dog,’ he said. ‘And I can be your guide dog.’ Nothing seemed to faze him. Even when his joints felt weak and painful, he’d smile.

‘If you can’t get over something, go around it,’ he’d say.

Over the years, Colin had 15 ops on his joints, steel bolts in his feet, metal plates in his thighs.

Aged 19, he volunteered at our local Thames Hospice charity shop. Fundraising became his passion. Then, in December 2015… ‘I’ll dress up as the Crazy Frog and tour the town on my mobility scooter,’ he told me.

He dressed up, decorated his scooter with balloons, and drove round collecting money. He raised £1,300 – I was so proud.

Last Christmas, Colin dressed as Santa, decorated his scooter as a sleigh with tinsel and fake snow, and played Slade’s Merry Xmas Everybody on his sound system. He had a great time spreading festive cheer and fundraising – this time collecting £2,000.

Words can’t describe how proud I am of my Colin. He’s in a lot of pain, but it doesn’t stop him thinking of others.

We know our condition will get worse, and Stickler syndrome is life limiting.

But, in the words of my brave boy, if we can’t get over it, we’ll just go around it. We can do it!

Words can’t describe how proud I am of my Colin