Weekend Argus (Saturday Edition)
Hope of improved life for ‘bubble’ baby boy
Groundbreaking gene therapy gives toddler a second chance
A CAPE Town toddler who has been living in a sterile “bubble”, because of his rare immunodeficiency disease, can now face a life of freedom thanks to groundbreaking gene therapy at St Jude Children’s Research Hospital in Memphis, Tennessee.
Ayaan Isaacs has severe combined immunodeficiency disease (SCID), being diagnosed just days after he was born at the Kingsbury in March last year. The illness is commonly known as “bubble boy” disease – and is a rare genetic disorder that is characterised by a defect in the B and T- lymphocytes, white blood cells that defend the human body from viral, bacterial and fungal infections.
Speaking from Memphis, Ayaan’s mother, Shamaa Sheik, said: “After a week of being home post-birth, he suddenly became ill, with violent crying fits, abnormal breathing, lethargy and poor latching.
“After being admitted to hospital on March 18, 2016, Ayaan underwent two central line procedures, two lumbar punctures, three further surgeries, one of which was six hours long, and multiple blood and platelet transfusions.
“He is the only known infant survivor of multiple liver abscesses in South Africa, according to statistics.
“He also miraculously survived legionnaire’s disease.”
Today is Sunflower Day, which aims to give hope to people dealing with conditions that require stem cell transplants.
Sheik said: “Children born with this condition lack a functioning immune system and a common cold can be life-threatening, without the proper treatment. Most children do not survive past a year as they die of opportunistic infections.
“The only known cure is a successful blood stem cell transplant, or so we were led to believe. Owing to a rare tissue type, my child was unable to find a matching donor and after 11 months with no progress, I approached a research hospital in Memphis.
“After three months of discussions, we were flown to America, where my son was the first child from Africa to receive a groundbreaking form of gene therapy for his condition,” said Sheik.
Ayaan spent 87 days in paediatric ICU in Memphis, and was later discharged with the proviso that they used the same brands of medical supplies used in hospital. These included hand washes, alcohol gels, syringes, feeding tubes, sterile water for feeds and baths, gloves and masks, feeding pump accessories and many nutritional supplements.
His medical aid would not cover the cleaning supplies, special food formulas and supplements that he required to thrive and to gain weight, so the family has been forced to dig deep to cover his expenses.
Before Ayaan’s treatment in the US, a sterile bubble had to be created in the family home in which he lived in strict isolation.
He could have physical contact with only household members wearing protective clothing. The preventive measures included taking seven antibiotics to fight off any infections.
Sheik said his paediatrician was meticulous in ensuring that Ayaan was adequately covered for bacterial, fungal and some viral infections. She also made sure that he received a monthly intravenous immunoglobulin infusion as the boy was unable to produce immunoglobulin on his own.
“We were given instructions on how to make Ayaan’s environment sterile. We moved Ayaan to the end of the house, where he was isolated.
“We bought special cleaning detergents that killed off 99.9% of bacteria and washed out the entire room from top to bottom. No fabric was kept in the room and we kept the furniture to a minimum,” said Sheik.
With costs escalating, relatives helped with the first round of supplements, which cost more that R9 000 a month. Braude’s pharmacy in Athlone sponsored some of the medical supplies, while a group of local comedians raised funds at a stand-up comedy show.
Costly tissue typing and a lengthy wait for donor searches were in vain, and that is when the family began an independent search. This led them to St Jude where they learnt of the gene therapy research and a clinical trial being conducted there.
Had a donor been found for Ayaan, Sheik and her husband, Alleem Isaacs, would have had to motivate the need for a transplant to their medical aid for them to authorise an estimated R500 000 for the treatment.
“The transplant team we were dealing with had negative opinions about gene therapy. In fact, they said not to pursue treatment overseas as it costs millions of dollars,” said Sheik.
“St Jude was the most responsive to my request and I continued my discussions with them. Our paediatrician, Dr Hedi van der Watt, came in at the tail end of the process and assisted us with the collection of blood and buccal samples, and paperwork that had to be couriered to the hospital for all the work-up tests. She was more than willing to help because she knew how long we had been waiting for treatment,” said Sheik.
With the blessing of their employers to work remotely from the US, Sheik and her husband set off for Memphis five months ago with Ayaan. He received free treatment, including all the supplements and other medical supplies, and free accommodation for their stay, travel costs for one parent and a motivation from the hospital to speed up the visa application process.
“Ayaan had a month of work-up tests done before the treatment began. When they deemed him stable and free from infection, his own stem cells were harvested for genetic modification in a lab.
“Then he received a light dose of chemotherapy over two days to make room for his new cells. Simultaneously, his own stem cells were ‘treated’ with the St Jude product where the error in his genetic code was corrected.
“A few days later, just 10ml of his own stem cells were given back to him via an IV infusion that lasted under 10 minutes. The new product helps his body to make immune cells that he was unable to produce before.
“Ayaan’s results have shown great immune reconstitution. However, owing to a BCG vaccine that he had at birth, he is experiencing some complications and is being treated for them. I remain optimistic that he will return to South Africa with a fully functioning immune system,” said Sheik.
He is still in strict isolation, and it will be some time before he is allowed outdoors. “It’s a slow process, but it is definitely going to rewarded one day soon.”
For the next five to 10 years, Ayaan will have to return to Memphis regularly for milestone research tests, and he will remain a patient of St Jude until he turns 18, “to ensure that he receives comprehensive care for his condition for as long as he requires it”.
“He will require a few more sessions of intravenous immunoglobulin, but by year end, he may no longer require it once tests indicate that his levels are normal.
“We hope that he will no longer require tube feeding but we will cross that hurdle when we get to it.
“The main objective for this trip was to give him an immune system and the rest will fall into place eventually. I have stopped stressing over things that are beyond my control.
“Things have always found a way of working themselves out as far as Ayaan’s medical needs are concerned. He is a truly blessed little boy,” said Sheik.
Besides the gene therapy, Ayaan has access to care from other specialists, including speech therapy, and he has learnt “to drink from a cup using a sucking reflex we were led to believe no longer existed for him”, and to communicate through baby language, she said.