GEORGE NEWS - The life-altering consequences of Klinefelter Syndrome compelled the 62-year-old Stephen Malherbe to pack a bag and set off on a bicycle to attract attention to this not-so-rare genetic disorder.
Malherbe started from Philadelphia in Cape Town and has worked his way through the Swartland, Cape Winelands and Hessequa to the Garden Route.
He arrived in George on Wednesday 30 October and is slowly working his way to Plettenberg Bay, where he will turn back home via George over the Outeniqua Pass and along Route 62.
He explains that men with Klinefelter syndrome (KS) are born with an extra X in their sex chromosome, changing the normal XY to XXY. They have 47 chromosomes instead of the normal 46. "Although many men remain entirely unaware of their additional X chromosome, and not all develop KS, I was one of those who did. A majorty of those with XXY will have some symptoms and all are fertility compromised, i.e. have little to no sperm," says Malherbe.
He practises as a trigger point therapist and has started a non-profit organisation, Klinefelter Syndrome XXY47, to do advocacy.
As a young boy he always felt different from his friends - he was smaller, less self-assured and often sickly. He struggled with classroom learning and school sports. Only at the age of 17, six months prior to joining the Air Force, was he diagnosed with KS.
"With the appropriate treatment, my body began to develop into that of a man, and I felt able to embark on a normal life that included girlfriends, marriage and a career."
But it was far from smooth sailing from there because of the scars left by his earlier life experiences. He says it was only after many hard-learnt lessons and some traumatic events that he mustered the inner strength to start telling his story. He wrote a book about his life, Living with my X, published in 2010.
Malherbe says the double X chromosome causes a low level of testosterone. This leads to enlarged breasts, less muscle mass and bone strength, less facial and body hair and low energy levels, among others. The symptoms are highly variable and can be very subtle, so only 25 to 35% of males with KS are actually diagnosed.
"Doctors have to start asking more questions when diagnosing. Since my diagnosis in 1974, nothing has changed in the medical journals regarding KS. I believe more needs to be said and more awareness must be created, especially among parents and medical practitioners. All of us who have Klinefelter wish we could have been diagnosed earlier. Many men are only diagnosed when they marry and then discover there is a problem with fertility."
Malherbe says medication and treatment for complications resulting from KS, such as osteoporosis, are not covered as chronic conditions by medical aids in South Africa.
"I have to take testosterone, but I must pay for it myself. KS is not a life-threatening condition, but it is definitely life altering. Even if only one person out there can be helped through my travels and awareness creation, I'll be very happy."
Malherbe aims to stop over at 47 towns in total in six weeks' time. In every town, he visits the local clinics and hospitals to spread information regarding KS.
*Humans have 46 chromosomes, including two sex chromosomes that determine a person's gender. Females have two X chromosomes (XX). Males have an X and a Y chromosome (XY).
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