Breakthrough drug for Cape boy
Science News / 01 Feb '13, 3:30pm
Cape Town - When little Daniel Le Roux of Brackenfell was admitted to hospital in October, he was so sick that doctors only gave him three months to live.
Daniel, who is celebrating his third birthday today, has a very rare genetic condition, Leigh Syndrome, and a new treatment has given his family hope that he will live longer.
Lianie Le Roux sits with her son, Daniel, at the Cape Gate Medi-Clinic. Daniel has Leigh Syndrome, a rare genetic disease which destroys the brain cells responsible for muscle development and motor movement. Picture: Jason Boud. Credit: INDEPENDENT NEWSPAPERS
Leigh Syndrome is a neurological disorder which systematically destroys the neurons in the brain stem, which are responsible for motor functions such as movement and breathing. The condition often results in death within a couple of years owing to respiratory failure.
The first signs of the syndrome in infancy are usually vomiting, diarrhoea and difficulty swallowing which leads to eating problems often resulting in an inability to grow and gain weight.
But after being in a coma and stopping breathing at some point, there is now hope Daniel’s condition will improve and that he might live longer.
He is being treated with the breakthrough drug EPI 743 at Cape Gate Medi-Clinic. The drug, which has been imported, is currently being tested on children with genetic disorders that affect metabolism and mitochondria (the power sites of cells).
The drug, recently approved for clinical trials by the US Federal Drug Association, cannot cure the disease, but it stops cell damage. Early tests have shown the vitamin E-based drug can help improve the function of cells with mitochondrial problems.
According to Professor Pieter Fourie, a paediatrician who treats Daniel, the drug can, “to a certain extent”, reverse some cell damage caused by the syndrome.
After being on the drug for 100 days, doctors and Daniel’s parents are already seeing an improvement.
His mother Lianie remembers how sickly her only child was when he was admitted to the critical care unit four months ago.
“Daniel was so weak he could only lie on his back. He couldn’t stand or walk or play. We would just put him on a bed with cushions around him, but after he was put on this drug he started regaining his strength.
“His balance is still unsteady, but at least he can play and can even walk with assistance. I can’t believe the energy he’s regained... he made us believe that life really is a miracle... he really is a little fighter. I’m so glad we didn’t give up when everybody thought that it was over for Daniel… he’s taught us so much about life and that giving up is not an option.”
Fourie said Daniel was the only child in South Africa in the trial.
Daniel’s condition had improved so much that he might go home soon. But he would continue to be on a ventilator.
“Having this medication in our hospital has not only been saving one child, it created an opportunity to increase our knowledge… Until now we had no way of stopping the progression of the cell damage… we could only issue death certificates to these children, but now it’s a different picture altogether.” - Cape Argus