Cyclist with 'XXY syndrome' completes tough WC tour to raise awareness
Klinefelter's syndrome or XXY syndrome is a relatively common yet under-diagnosed genetic condition where a boy is born with an extra X chromosome.
Pippa Hudson is joined "On the Yellow Couch" by Stephen Malherbe who's just completed a 47-town cycling trip through the Western Cape to raise funds and awareness of the condition.
Despite the fact that his speed is slowed down by poor muscle tone, Malherbe completed the trip on a small fold-up bicycle.
I wish I'd done this 20 years ago. Cycling around South Africa is safe and one of the best experiences you could ever have. I found the most wonderful people.Stephen Malherbe, Founder - XXY47
He lists some of the other physical problems associated with Klinefelter's syndrome.
Complications around that are learning problems, speech, language, we have problems with our bones. We often end up with osteoporosis. We have more breast tissue than the average male, problems with our teeth...Stephen Malherbe, Founder - XXY47
Dr Shahida Moosa, a clinical geneticist at Tygerberg Hospital, explains that the condition tends to be under-diagnosed because not many serious complications present in early childhood or adolescence.
Most men are only diagnosed when they present to a doctor because of problems with infertility.Dr Shahida Moosa, Clinical geneticist - Tygerberg Hospital
Most men with Kleinfelter's syndrome will not be able to have children. They end up with a low sperm count, if any.Dr Shahida Moosa, Clinical geneticist - Tygerberg Hospital
Dr Moosa adds that as soon as the condition is picked up, the patient should receive psychological help because the diagnosis is not easy to cope with.
Malherbe says there's a need for more research in South Africa as the available information has not changed much since his diagnosis more than 40 years ago at the age of 17.
He speaks of the shock when he found out only eight years later that he wouldn't be able to father children.
At about 25, six months before I got married, my doctor then told me I can't have children. It's very devastating and difficult to come to terms with. Adopting children is a very different thing.Stephen Malherbe, Founder - XXY47
Find out more on the website www.xxy47.co.za or email Malherbe at firstname.lastname@example.org.
Listen to the conversation on Lunch with Pippa Hudson:
Image credit: Steven Taylor
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