“I don’t want people’s pity; I just want them to have a better understanding of genetic diseases.”
Symhurst resident Sarel Pretorius (37) wants to make that very clear.
Pretorius suffers from Huntington’s disease and is the sixth generation of his family to inherit the condition.
Huntington’s causes the progressive degeneration of nerve cells in the brain.
The disease has a broad impact on a person’s functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders.
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.
When it begins before the age of 20, the condition is called juvenile Huntington’s disease.
Earlier onset often results in a somewhat different presentation of symptoms and faster progression.
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.
Pretorius was first diagnosed with the disease in 2008.
“After having my son Draven (12), I decided I couldn’t put off the tests any longer,” he explained.
“Once I was diagnosed I began to notice how little information was available not just on Huntington’s, but all genetic diseases.
“I feel there should be a lot more information available and that people with genetic diseases shouldn’t have to hide them, they should lift the veil, so to speak.”
When asked how his life has changed since he was diagnosed, Pretorius explained: “I can no longer drive a car, so I walk everywhere.
“After 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.
“I was recently approved for a social grant, which has helped the situation a bit.
“I spend my days trying to keep busy, visiting the local library and even the Primrose Bowling Club.”
Pretorius has found some comfort in meetings held by the Huntington’s Disease Youth Organisation (HDYO) and regular visits with his therapist.
“When I first attended the meetings I was nervous, I don’t really like to be in groups, but they have helped me and I have met so many amazing people,” he said.
“The next challenge I face is to tell my son about the disease.
“I 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.”
Young Draven has a 50 per cent chance of inheriting the disease from Pretorius, but may display symptoms only in his 30s.
