I saw my son's thumbs and knew I'd given him killer bug; CAROL DOBBINS FOUND OUT AFTER 17 YEARS THAT NOT HAVING THUMBNAILS WAS A SIGN THAT SHE HAD A DEADLY RARE DISORDER.
When she saw Stephen's thumbnails were missing, Carol knew her worst nightmare had come true.
Carol had also been born without thumbnails and was diagnosed, at 17, as having nail patella syndrome (NPS), a potentially fatal genetic disorder.
NPS refers to the unusually small or absent thumbnail and a small or deformed patella - kneecap.
The condition causes sudden kidney failure, which can lead to death within 12 hours. It also leads to osteoarthritis, tendon and bone deformities and can cause blindness through glaucoma.
Doctors told Carol she would never have children and could be dead by the age of 33.
But Carol defied that bleak medical prognosis by having a family and is about to celebrate her 34th birthday.
She said: "It was terrifying. The day I was told was the worst of my life. It was such a shock. All I could think was `I'm going to die' and I couldn't stop crying.
"I always wanted to have a family, but the specialist told me my body wasn't structured to carry children and it would be very dangerous to be pregnant."
Carol had resigned herself to being childless, but after she met and married Keith, she discovered she was pregnant.
Carrying a child was a big enough risk. But her biggest worry was that NPS sufferers have a 50 per cent chance of passing the disorder to their children.
Carol said: "Becoming pregnant was an accident. I knew the risk of passing it on to my children but I wanted a family."
Despite a difficult pregnancy, Carol gave birth to a healthy baby girl, called Nicola.
Carol said: "As soon as she was born, everyone wanted to know her sex. I wanted to know if she had thumbnails. When I saw she had, the feeling was amazing, we felt so lucky.
"Afterwards, the doctors begged me not to have any more children."
The prospect of another didn't cross Carol's mind. But as Nicola grew up, Carol dreamed of a brother or sister for her. Five years later, that dream came true.
Carol said: "Having Nicola had planted a seed of hope and I became broody. I expected my second pregnancy to be worse, but it wasn't too bad.
"When Stephen was born, the first thing I did was look at his thumbnails.
"He didn't have any and my heart sank. I knew he had NPS. I was the happiest person in the world because I had two children. But I was the saddest person, too. My emotions went mad. I wanted to smother him and protect him.
"I felt guilty and thought `What have I given him?'. Some days it's painful to look at him and not know what his future will be like.
"Stephen was four in May and is starting school. He's had major surgery on his knee and coped brilliantly. He's a fantastic wee fighter."
The defective gene which causes NPS is present in one in every 50,000 babies around the world. However, parents are often unaware they have the disorder due to a lack of information about the condition.
Although NPS has made Carol a "walking timebomb" she has promoted a campaign to help others with NPS.
She said: "There needs to be more awareness. Our group constantly finds sufferers who have never heard of the condition."
Carol used the Internet to link up with the help group NPS Worldwide.
She said: "It makes all the difference to know that I am not alone. But there are hundreds of people who don't know what is wrong with them.
"Joining that group was the turning point of my life. I had felt freakish for years, but when I found out my symptoms had a name, it made sense.
"NPS Worldwide is a non-profit organisation dedicated to fundraising and researching Nail Patella Syndrome and takes up all of my time.
"Having NPS is terrifying. When I was first diagnosed, I visited several doctors who hardly knew anything. They asked me for information.
"New things come to light about the condition all the time.
"I've had four operations on my kneecaps and was registered disabled at 26. I keep going because of Keith and the kids. Keith is a strong person."
Dr Elizabeth Sweeney, a specialist at the Royal Liverpool Children's Hospital, is conducting a survey of 120 sufferers in the UK.
She said: "People often think they have arthritis and never have NPS diagnosed."
Dr Ian McIntosh, assistant professor at John Hopkins University in Baltimore, said: "It has been thought of as an orthopaedic condition instead of a genetic one. Much work needs to be done so that people with NPS can have an early diagnosis."
Carol will fly to California this month to meet the world's experts at a two-day conference on NPS.
She said: "I hope the conference will shed new light on the condition. I will also speak to surgeons about what other operations Stephen might need."
Despite everything, Carol remains cheerful about the future.
She said: "Having NPS is hard to live with. I was told I would have kidney problems which would kill me and the doctors cannot predict how long Stephen and I will go on living.
"I've reached 34 and feel weird, as I was convinced I wouldn't be here. I'm optimistic and I'm always laughing. It's important to live each day as it comes and make the most of life."
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|Publication:||Daily Record (Glasgow, Scotland)|
|Date:||Sep 5, 2001|
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