Saving baby Zia from a rare disease

Seven days after giving birth to her second child, Rabia Khan held her son in her arms, smiling, proud to be a mother once again. It was then that she noticed a strange, sickeningly sweet smell. 

"Nadeem!" she called her husband.

"What's wrong?" he asked.

"Smell Zia."

Rabia held Zia up while her husband sniffed him gently. 


"He smells a bit funny," Nadeem said. "But I don't think we should think anything of it – they said he was healthy at the hospital."

Rabia put Zia into a bath, generously lathering him with Elizabeth Anne's soap and shampoo.

"There now – you can smell like a baby," she said lovingly.

Lifting his minute body out of the bath she smelled him again. 

"Ah!" she exclaimed, frustrated. 

The nauseatingly sweet smell broke through the soft scent of Elizabeth Anne's. 

Check-up
Three days later, on May 10 2011, Zia was due for his 10-day check-up with their paediatrician. After a short consultation the doctor knew something was wrong, but she didn't know what. Zia was immediately admitted to the intensive care unit (ICU) at Netcare Kingsway Hospital in Durban, where the young couple lives. 

"That night alone he stopped breathing five times and the next day doctors put him on a ventilator," Rabia tells me sitting in an empty room at the University of the Witwatersrand's Donald Gordon Medical Centre in Johannesburg holding a playful Zia – now two and a half years old.

"They kept him on the ventilator for two days and then took him out to see if he could manage on his own."

But within three hours he was struggling to breathe and was ventilated again. After seven excruciating days watching her newborn son in ICU with dozens of tubes linked to his tiny body – all the while "oozing" this sweet smell – the blood report came back from the Potchefstroom laboratory where his blood had been analysed.

Rare disease
He had a rare metabolic disorder called maple syrup urine disease (MSUD) or branched-chain ketoaciduria – which meant that he didn't produce a certain enzyme that breaks down three amino acids (the building blocks of proteins) – leucine, isoleucine and valine, found particularly in protein-rich foods such as milk, meat and eggs.

"The accumulation of these amino acids in his body and brain is toxic and, if left untreated, could lead to brain damage and even death," said Jean Botha, head of liver transplants  at Donald Gordon's transplant unit. 

Although the condition is rare, especially in South Africa (Rabia's paediatrician investigated and found only two other cases), certain populations have much higher rates of MSUD. For example, according to Botha, the Amish community in North America has suffered with high rates of the condition.

"But a treatment was accidentally discovered in the United States when a patient had a liver transplant for another condition and they found that it cured their MSUD," Botha said. 

The enzyme Zia lacks is made by many tissues and organs in the bodies of healthy people. "Replacing the MSUD person's liver with one that can produce the enzyme cures the disease," he said.

The liver is a big enough organ to produce enough of the enzyme to compensate for the rest of the body. 

Mother's sacrifice  
Living donor liver transplantation – a procedure brought to the country by Botha, who worked in the US for 12 years before coming back to South Africa a year ago – was, for Rabia, the only option.

She donated a part of her own liver so that her son could live a normal life.

Donald Gordon is, according to Botha, the only place on the continent "south of Cairo" that does living donor liver transplants – in which  a piece of liver is removed from an adult, usually a family member, and transplanted into the child or adult who needs it.

"Rabia's liver will grow back to normal size in a month and Zia's new liver will grow with him to the normal size of the organ in an adult," said Botha. 

Neither Rabia nor Nadeem have the disorder, but they later learned that they both carry a mutation in their genes that means that they have a one in four chance of having a child with MSUD. 

The disorder, which gets its name from the sweet smell those with the condition give off (usually through the urine and ear wax) is extremely difficult to manage. 

"He couldn't drink normal milk because of the protein in it, which he couldn't process, so we imported four different types of milk from London, which we mixed together and fed to him every two hours," said Rabia.

She and Nadeem had to feed Zia extremely slowly with a syringe because the mixture tasted terrible, but they couldn't risk him bringing it up again.

Every single day Rabia pricked Zia's finger and used a home testing kit to measure levels of ketones in his body, which can indicate an emergency state. Every two weeks a more thorough test was done by his doctor to measure levels of the amino acids he couldn't process. 

Zia spent the early days of life in ICU, and was in hospital every month for an average of two weeks thereafter. 

This was the Khan family's life until last year, when they decided to investigate the living donor liver transplant option. 

Organ donation: a "crisis"
"This is unfortunately something we are forced to do because we don't have enough donor organs," said Botha. Since the living liver donor programme started at Donald Gordon last year, surgeons have done 10 of these operations. 

"This is roughly 20% of our liver transplant programme, which is an enormous percentage," said Botha.

He said that it is a "crisis" when a family has to put themselves at risk when there are so many unidentified donors across the country. 

"Living donor procedures can have a 200% mortality rate if something goes wrong – both people could die, and that weighs heavily on us – if I didn't have to do this I wouldn't," he said.

But for Rabia the risk was worth it.

"We're swapping one disease for another because Zia will be on anti-rejection medication for the rest of his life and he has to always be careful – but we opted for the choice which wouldn't cause brain damage so that he can have a more normal life."

Had the family continued without the transplant, Zia would have been at risk of the dangerous proteins gathering and causing damage to the brain.

A chance to catch up 
Although Zia's development has been delayed slightly because of the illness – he can't walk or talk properly yet – Botha said that with his new liver he will "catch up".

And after two and a half years on a heavily restricted diet, Zia is catching up fast, said Rabia.

"He just wants meat. He doesn't want rice or any vegetables. He just wants chicken, ribs or whatever – we can't keep him out of the kitchen!"

The family is looking forward to a holiday, but to ensure that Zia's body doesn't reject his new liver he has to take drugs to suppress his immune system, which means he can't be in public spaces such as shopping malls for about a year as he is at a much higher risk of catching infections. "We've had to sacrifice two and a half years – another one won't kill us," said Rabia, smiling at her husband. 

"After this we will go somewhere where there's nothing to do – just water and sand – like Mauritius," said Nadeem.

"If they couldn't do the transplant here at Donald Gordon we would have gone to America," said Rabia.

Nadeem agrees: "For Zia we would have gone to Mars and back."

                                                     

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