A Strandfontein boy, 8, cannot go out to play or wrestle with his younger brother as any exertion may cause him to have a stroke-like episode.
Muhammad Thaakir Khan cannot participate in most normal activities, like other children his age.
He was diagnosed with a rare disorder, called MELAS (Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes), at Red Cross War Memorial Children’s Hospital in October last year.
With the abnormal function of mitochondria, the parts of the cell which make energy, the cells start to slow down and can cause many different symptoms.
“I get mad,” piped up Muhammad Thaakir during an interview with the Plainsman on Wednesday October 26, explaining his frustration at having the disease.
His mother Shafeeka Khan explained that he gets aggressive, throws tantrums and screams, when he is unable to do things.
During the interview Muhammad Thaakir slouched in the chair. He would often repeat words.
He is one of approximately 16 in 100 000 people who carry the MELAS mutation.
His condition affects many of his body’s systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy).
The genetic disease is passed down maternally which either male or female child can inherit.
It is not commonly diagnosed in children but Muhammad Thaakir tested positively for MELAS.
Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures.
For people who are diagniosed with MELAS, stroke-like episodes are usually experienced before the age of 40 but Muhammad Thaakir already has these fits and it happens when his body reaches just 37 degrees.
Last year he was admitted to hospital after a week of blindness, deafness, slurry speech and loss of mobility in his legs. He has monthly check-ups and feedback sessions at the hospital.
Doctors are closely monitoring the progression of the disease. Symptoms vary from person to person and are more serious when it starts in childhood.
Angelique Jordaan, hospital spokesperson, said there is no specific treatment and research on the condition is ongoing.
“It is almost like his brain shuts down,” said his father Ighsaan Khan.
Muhammad Thaakir was finishing treatment for TB meningitis, a life-threatening infectious disease, when he had his first severe fit.
Repeated stroke-like episodes can progressively damage the brain, leading to vision loss, problems with movement and a loss of intellectual function.
Mr Khan said his son had been misdiagnosed and run up private hospital bills in excess of R5 000 before being referred to the state hospital last year.
During October and November last year, while in hospital at Red Cross, Muhammad Thaakir had several tests done, including blood and scans.
Their current hospital bill is more than R60 000.
Their medical aid benefits depleted early last year and they are paying back the money. Similarly their medical aid benefits for this year have also been depleted.
They are hoping to set up a trust fund and raise awareness about the rare disease.
For more information call Mr Khan on 082 603 9668 or Ms Khan on 082 781 7215