Daniel de Kock has adrenoleukodystrophy (ALD), a genetic condition that damages the membrane that covers nerve cells in the brain and spinal cord.
The Dutch Reformed Church in Simon’s Town is holding a golf day fund-raiser for a 19-month-old boy with a rare genetic disease.
Daniel de Kock suffers from adrenoleukodystrophy (ALD), a condition that damages the membrane that covers nerve cells in the brain and spinal cord.
His father, Jurie, said he and his wife, Kirsty, knew there was a 25% possibility that any child they had could have the gene as Kirsty’s mother was a carrier.
Kirsty’s brother, Jonathan Kirby, had died of the disease when he was 11 years old.
After birth, Daniel had his first test done at four months to determine whether he had the gene and the doctors confirmed that he had.
His father said further testing indicated that his adrenal gland was over-functioning but underproducing which resulted in him being lethargic.
While symptoms of ALD sufferers may include loss of vision, learning disabilities, mutism, paralysis, difficulty swallowing, and low impulse control, among others, Daniel is currently symptom-free.
“If you see him, you will think he is a happy healthy boy. He loves helicopters and anything mechanical and working in the garage with his grandfather,” Mr De Kock said.
However, Daniel must be monitored closely at all times. Should he get a fever, he must be hospitalised as a high fever could indicate increased pressure on his endocrine system which could indicate a progression of the disease.
“If he has a fever, we cannot tell if it is just a normal fever or if it is the disease progressing,” Mr De Kock said.
Daniel’s grandfather, Mark Kirby, said there was no cure for the disease, but a bone marrow transplant could prevent it from getting worse.
“We're hoping he can get a bone-marrow transplant next year at the age of 3 as his body is still developing, and there is a lesser chance of the bone marrow rejecting his body.”
Mr Kirby urged people to become bone-marrow donors because currently there was a 1:100 000 chance of finding a match.
“If you are healthy, please register to be a donor. The process is very simple and can be done by taking a cheek swab. You don’t even have to leave your house,” he said.
Daniel’s father and mother have both been tested but are not matches.
Mr De Kock said only a sibling, who does not carry the gene, could be a potential match and even if Daniel had a bone-marrow transplant he would have to take hydrocortisone three times a day for the rest of his life. However, he said, medical technology had developed so much lately “there is hope”.
Mr Kirby said it was important for people to know that ALD is not a form of cancer or blood cancer.
Palesa Mokomele, a spokesperson for DKMS Africa (formerly The Sunflower Fund), a non-profit organisation dedicated to the fight against blood cancer and blood disorders, said only a third of patients found a matching donor in their family and most had to rely on a stranger to save their lives.
The 1:100 000 chance of finding a match came down to genetics, and recipients were most likely to find a matching donor within their own ethnic group. Patients of African descent only had a 19% chance of finding a matching donor whereas Caucasian patients had a 75% chance.
“Too few black, coloured, Indian, and Asian people are registered as stem cell donors,” she said.
To register, visit www.dkms.org/get-involved/become-a-donor.
The fund-raiser will take place at the Simon’s Golf Club on Saturday May 20. Tee-off for non-professional golfers starts at 8am and costs R220 a person. John Page, from the Dutch Reformed Church, said there would be potjiekos, boerewors rolls and a lunch prepared by the country club. To book, call Mr Page at 072 470 1638.