When little George was born on March 29, 2003, a healthy 3.9 kg, his parents were overjoyed. “He was a happy healthy child. And being first-time parents, every coo was a happy noise. And George made many of those.”
“But at seven months, we noticed that he went suddenly quiet. And his sociable self was gone. Then just as fast, he started getting seizures,” says James Kabindu, George’s dad.
The worried parents rushed him to different hospitals in vain looking for answers.
“For the next five years, we were in and out of hospitals trying to arrest the seizures. At this point my son was disabled. At first we were told this was a case of epilepsy. We were also given medication to manage the situation but it did not work,” he says.
George also developed rashes on his skin and would at times also be very hyperactive. His intellectual ability was also stunted.
“I noticed he was missing the normal child development milestones. His skin was developing a strange pigmentation as a result of the rash that would not go away. We were also told he might be autistic. Basically, he had mimicked every other known condition.”
Years went by and they would manage whatever condition developed having not gotten a proper diagnosis. In 2008, the couple welcomed their second child. A beautiful little girl they aptly named Angel.
Everything was fine with the infant until at about eight-months-old when she developed the same peculiar symptoms as her brother.
“She too began convulsing and had the rashes. Her development stagnated too. Basically it starts with normal symptoms like fever, you notice the baby becoming weak, and you can easily mistake it for other normal ailments. We got worried when the seizures began and decided to seek the opinion of specialists from India,” Kabindu explains.
In 2016, the frustrated parents packed up the children and set off to India hoping to come back with a proper diagnosis. A battery of tests revealed they had a rare, easily misdiagnosed condition known as Phenylketonuria (PKU). PKU is a rare genetic disorder that causes an amino acid called phenylalanine to build up in the body. Those with the condition lack the enzyme responsible for breaking down the enzyme. In newborns, this can only be detected after birth by doing a blood test to screen for genetic diseases because at this point, the condition does not have any symptoms.
The babies usually develop the signs of PKU in a few months after birth. These range from neurological problems that may include seizures, musty breath and skin rashes among others.
Today, George and Angel are 17 and 12 years respectively. Their brain development was affected by PKU and they need full time care and their mum quit her job to take on the role.
“What we do is avoid giving the children foods rich in proteins because that makes this condition worse. We also import supplements because some of them are not available in Kenya yet,” their father says.
There is also another less severe form of PKU where the enzyme is present but not fully functional. This means that the enzyme retains some functions so that the phenylalanine levels are not so high. This therefore results in a less severe brain damage. However, most children with this condition still need a special PKU diet to prevent intellectual disability among other complications.
PKU carriers
For a baby to develop PKU, they would have to receive the PKU gene from both parents. Receiving one gene from one of the parents makes one a carrier. A genetic test can reveal if one is a carrier.
“My wife and I did not know that we were carriers. If we had done a genetic test before we had the children, maybe we could have got a solution,” he says.
As they raise their children the best way they can, he wishes that the government would support them in lowering the eventual cost of the drugs they have to ship in.
“The supplements aren’t cheap. But then we are also taxed and this makes it so difficult. I wish the government and affiliated bodies like Kenya Revenue Authority, National Hospital Insurance Fund (NHIF) and the disability bodies would recognise this as a real issue that needs to be handled differently,” he urges.
