Cape Town - A single mother's world was turned upside down last month after her two young sons were diagnosed with a rare life-threatening genetic disease.
Brothers Abu-Taalib, 7 and Ayyub, 4, from Constantia, were diagnosed with a rare genetic brain disease, adrenoleukodystrophy (ALD), in June. The disease has a very poor prognosis and their only hope of survival is to have bone marrow transplants.
Their mom, Bibi Aysha Zoutenberg, 33, is a widow who lost her husband during the Covid-19 pandemic. She said Saturday, June 1, was a normal day until Abu-Taalib had to be rushed to hospital after bumping his head.
“We were on our way to the car from karate when Abu-Taalib bumped his head. I asked if he was okay and he said he was fine, but when we got home he was not acting like his normal self, and was very quiet. He was having a focal seizure.
“He was just being quiet and his eyes wandered off slightly. I took him to the Christiaan Barnard Hospital where they told me that it was actually a seizure, but I did not think it could be from the head bump. I thought maybe he got injured at karate.”
She said the hospital did a CT scan and found there was a bit of inflammation. “The Sunday, they did a MRI scan and there it was confirmed that he had ALD. At the time, the paediatric doctor could not answer any questions that I had as they don't come across this condition often because it is super rare.”
Zoutenberg said her first step was to google ALD, and everything she read was frightening.
“The neurologist came to speak to us and my first question was, what are other kids doing with this diagnosis? She said there were no other cases; the last time she came across this (condition) was when she was an intern 13 years ago.”
After Abu-Taalib's diagnosis, Ayyub also tested positive for ALD.
In 2023, Abu-Taalib was diagnosed with ADHD, and in Grade R he started speech therapy but now needs supervision 24/7 because of the neurological impact of the seizures he had in June.
“There have been some cognitive red flags with Abu-Taalib so his diagnosis just made sense, but coming home there has been a change with him. With his oral fixation, he tends to want to put inedible things in his mouth.
“He has a lack of fear so he does dangerous things; his social skills have declined and his emotions are heightened, so he needs to be watched where before he was independent.
“It has been a big adjustment for me and Ayyub. It's like learning someone new. Ayyub is fine ... there hasn't been any difference in him, his MRI came clear so it hasn't affected his brain, but his adrenal gland is taking strain.”
After a visit to a haematologist, the family were told that a bone marrow transplant could reverse the neurological damage.
Since then, the family have been doing drives to get people swabbed and on the bone marrow registry, which gets sent to DKMS, a non-profit organisation dedicated to the fight against blood cancer and blood disorders.
Its mission is to provide a matching blood stem cell donor for every blood cancer patient in need.
“The bone marrow is the only hope and halts the disease, but it is an intense process for the boys as they have to first go through chemotherapy. The disease's prognosis is five to 10 years and when we were told the chances of finding a match is 1 in 100 000, that started our journey of getting tested.
“It is not common to be on a bone marrow registry but it is the same as donating blood. So when people find out they just need to swab their mouths, they become so enthusiastic,” Zoutenberg said.
“Our faith is pulling us through. The fact that it is so rare makes me feel like it is no mistake but it was destined for us. My greatest fear is losing my child, but my greatest comfort is him going to his daddy.
“It has become more than just the boys, we might find a donor who can help other children.”
The disease is so rare that finding experts to comment on ADL was difficult.
The family is encouraging the public to get on the bone marrow registry and to check out their Instagram and Facebook @savingtwobrothers_aa for their next drive.