Stephen's birth was happiest day of my life and the saddest..; THE THUMBNAIL GENE THAT MEANS A LIFE OF PAIN.
MUM Carol Dobbins had only one thought as she cradled her baby son in her arms - to check his thumbnails.
Within seconds she knew Stephen had inherited a condition that would condemn him to a life of pain.
Carol, 34, suffers from a rare disorder - Nail Patella Syndrome - which is characterised by a lack of thumbnails.
Caused by a faulty gene, it is a protein deficiency in the body, meaning bones are unable to form properly.
Although Carol and Stephen look healthy, neither of them can straighten their arms, they have no kneecaps, and their joints can dislocate at the slightest jolt.
Carol, of East Kilbride, has had six keyhole operations on her legs to clean out the fragments of bone which have worn away in her joints.
Stephen underwent painful surgery on his left leg at the age of two, which led surgeons to discover that he was missing a vital tendon. They had to rearrange the bones as best they could, so he could walk without constantly dislocating his knee.
Now four, Stephen could need surgery on his other leg, which is causing him trouble.
Carol said: "There are times when the agony is indescribable. But there is no cure for the condition and probably never will be, so we've got to live with it.
"People are horrified by what we go through, but I can honestly say Stephen and I don't know any different. It's like a constant cramp feeling throughout our bodies. We've never been without it."
She describes Stephen's birth as the happiest day of her life... but also the saddest.
After spotting the tell-tale signs of Nail Patella Syndrome she knew that, as well as the pain, the youngster would also be prone to liver problems and glaucoma.
Researchers have identified possible links between the condition and multiple sclerosis, as well as Attention Deficit Hyperactive Disorder (ADHD).
Carol was diagnosed with the condition at 17. Neither of her parents has NPS, but sometimes the gene mutates spontaneously.
When Carole was first diagnosed, NPS was so rare, doctors told her that she would be in a wheelchair by the age of 21, that she could never have children, and that she would be lucky to live to 30.
Nowadays, with more research, Carol knows it is possible to live a long and happy life - but she will never be free of the pain.
"I just take every day as it comes and get as much out of life as I can," she said. Carol can't remember living a single day without pain. As a child, she thought it was just a normal part of life.
Then, at the age of 11, she began to notice that she couldn't run around and enjoy sports like her friends. Constant trips to the doctor led to her being fobbed off with excuse after excuse. It was growing pains, she was told, or just bad luck.
It was only when Carol began training as a nurse at Stobhill Hospital, Glasgow, that one of the doctors noticed she had no thumbnails, and the nails on her fingers never grew.
Carol said: "He was intrigued, and hauled me in for tests. By the end of the week, I was diagnosed."
Because her pelvic bone is much smaller than the average woman's, she was told it was unlikely she could ever deliver a child.
Her life expectancy was said to be '33 - plus or minus 18 years.' She said: "As I walked home, taking all the information in, I cried my heart out."
But by the time she arrived at her front door, Carol was determined to prove the doctors wrong.
"I told my mum, and she was of the same opinion. The doctors had made a mistake."
However, one thing they'd predicted correctly was that Carol would become more disabled.
By the age of 24, she was forced to give up work, since she found it impossible to lift heavy items or walk long distances. It was around that time her sister introduced her to future husband Keith, now 34, a motor mechanic.
"I told him about my condition from the beginning, but it didn't make any difference," she said.
"I'd actually just had surgery on my leg when we got together, and had a plaster from my ankle to my thigh. But he took me dancing on our first date."
The couple discussed marriage, but before they could plan the big day, Carol discovered she was pregnant.
"I hadn't thought it possible," she admitted. "I was shocked, but excited." However, she had no idea of the strain pregnancy would place on her body.
In one particularly nasty incident, Carol was being sick one morning when both her hips dislocated, and Keith had to call for an ambulance.
Her daughter Nicola was eventually born by Caesarean section, and Carol breathed a huge sigh of relief when she saw her daughter had perfectly-formed thumbnails - sufferers of Nail Patella have a 50 per cent chance of passing it on to their children.
Although Nicola, now nine, escaped the condition, Stephen was not so lucky.
Carol, who is one of around 50 known sufferers in the UK, believes there are many more with the condition but just don't realise it.
She said: "The severity of the condition can vary. Some kids are born with their joints badly twisted, and can be confined to a wheelchair for life.
"Others have mild forms of Nail Patella."
Carol now devotes her life to fundraising for Nail Patella Syndrome Worldwide, a non-profit organisation set up in America to fund research into the condition, and is available to offer help and advice to sufferers throughout the UK.
She said: "When I see Henrik Larsson getting carried off the pitch with a sore shoulder I think, 'That's nothing. He should try being me'.
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|Publication:||Sunday Mail (Glasgow, Scotland)|
|Date:||Nov 4, 2001|
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