\u201cI don\u2019t want people\u2019s pity; I just want them to have a better understanding of genetic diseases.\u201d<\/p>\n
Symhurst resident Sarel Pretorius (37) wants to make that very clear.<\/p>
Pretorius suffers from Huntington’s disease and is the sixth generation of his family to inherit the condition.<\/p>\n
Huntington’s causes the progressive degeneration of nerve cells in the brain.<\/p>
The disease has a broad impact on a person’s functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders.<\/p>\n
Symptoms of the disease can develop when a person is in their 30s or 40s, but the onset of the disease may occur earlier or later in life.<\/p>\n
When it begins before the age of 20, the condition is called juvenile Huntington’s disease.<\/p>\n
Earlier onset often results in a somewhat different presentation of symptoms and faster progression.<\/p>\n
Medications are available to help manage the symptoms of Huntington’s disease, but treatments can’t prevent the physical, mental and behavioural decline associated with the condition.<\/p>\n
Pretorius was first diagnosed with the disease in 2008.<\/p>\n
\u201cAfter having my son Draven (12), I decided I couldn\u2019t put off the tests any longer,\u201d he explained.<\/p>\n
\u201cOnce I was diagnosed I began to notice how little information was available not just on Huntington\u2019s, but all genetic diseases.<\/p>\n
\u201cI feel there should be a lot more information available and that people with genetic diseases shouldn\u2019t have to hide them, they should lift the veil, so to speak.\u201d<\/p>\n
When asked how his life has changed since he was diagnosed, Pretorius explained: \u201cI can no longer drive a car, so I walk everywhere.<\/p>\n
\u201cAfter moving back to Germiston, a year ago, I had to move in with my father, Corrie, as I can’t work, which upsets me, because I am an independent person.<\/p>\n
\u201cI was recently approved for a social grant, which has helped the situation a bit.<\/p>\n
\u201cI spend my days trying to keep busy, visiting the local library and even the Primrose Bowling Club.\u201d<\/p>\n
Pretorius has found some comfort in meetings held by the Huntington\u2019s Disease Youth Organisation (HDYO) and regular visits with his therapist.<\/p>\n
\u201cWhen I first attended the meetings I was nervous, I don\u2019t really like to be in groups, but they have helped me and I have met so many amazing people,” he said.<\/p>\n
\u201cThe next challenge I face is to tell my son about the disease.<\/p>\n
\u201cI wanted to tell him in person, so am waiting for him to come and visit me in Germiston, as he lives with his mother in Cape Town.\u201d<\/p>\n
Young Draven has a 50 per cent chance of inheriting the disease from Pretorius, but may display symptoms only in his 30s.<\/p>\n