Eight-year-old Mary and four-year-old Neveah Taouk live with a genetic condition so rare, it doesn't have a name.
Simply called PGAP1 gene mutation, the sisters are thought to be the only people in Australia with the condition, and two of only "a handful around the world." There are fewer than ten confirmed cases globally, so there has been very little research conducted into PGAP1.
Currently, the sisters are unable to stand and walk without assistance, nor can they communicate at all.
If they could use "basic gestures, "...at least then they could point to where their pain is," dad Charlie explains. "If they were hungry or thirsty or tired, they could let us know and we could help. For us, those things would be life-changing."
The girls also suffer constant seizures through the night. Charlie says, "It's been years since we went to bed with minds clear of anxiety and panic."
Parents Charlie and Mira are now hoping that enough money can be raised by a crowdfunding campaign, so that scientists at the University of Sydney and the Children's Medical Research Institute can pull off a world first to help their daughters.
With a target of $250,000, the team hopes to develop gene therapy specific to PGAP1 mutation, offering a sliver of hope that Mary and Neveah can work towards a better quality of life.
When their first child Mary was born, the infant appeared healthy and met her developmental milestones. When she was six months old, however, mum Mira began to notice that her daughter never made eye contact. She slept a maximum of three hours a night and constantly cried inconsolably.
The University of Sydney News wrote, "As Mary grew, so did her problems. She could not speak and struggled to eat. Her muscles were so weak it was hard for her to move. She started having seizures – often clustered with only a minute's rest between fits. Doctors ran tests, but they came back clear. Without a diagnosis, there was nothing anyone could do."
Warned another child could have a one in four chance of having the same condition, they decided to try again.
Their second child Neveah began experiencing the exact same symptoms as her sister did at the same age, and Charlie gave up work to be at home with his family. He says he felt absolutely powerless in the face of this unnamed condition which affected both of his daughters.
"What can you do when you don't even know what's wrong with your child? You can't even try to help," he says.
Finally, a diagnosis
The girls were finally diagnosed in February 2019, when "...new developments in whole-genome sequencing enabled specialists to identify the disorder." Mary was seven and Neveah, four-years-old.
While it was a relief for the Taouk's to know at last something about what they were dealing with, there was also the devastation of learning there is no hope of a cure, nor any known effective treatment.
Charlie was determined to find out more. "I must have spoken to at least fifty people – scientists, doctors, professors," he says. "Most of them had never heard of the condition."
He found Dr Wendy Gold, a specialist in rare paediatric genetic conditions at the University of Sydney and arranged a meeting. "We arranged to talk," says Charlie. "To be honest, I wasn't expecting much. But then she said, 'Have you heard of gene therapy?'"
"Gene therapy is a new and rapidly evolving field of research. One of the therapy's forms involves adding new genes to a patient's cells to replace missing or malfunctioning genes. The new genes are typically delivered to the appropriate cells in the body using a benign virus as a carrier," explains a report from the University of Sydney.
The therapy is already being used in cases of spinal muscular atrophy and Parkinson's disease and, "Dr Gold believed there was a chance it could help the Taouk girls."
Though the Taouk family has managed to donate $315,000 through their own fundraising efforts, another $250,000 is needed.
Mira writes, "Our family has already put together the money for University of Sydney researchers Dr Gold and Dr Lisowski to hire an experienced postdoctoral researcher, who will finally start the research our kids desperately need. They'll investigate whether a gene therapy cure can be developed, and whether it might be successful."
She says it's been impossibly hard on the family, but this sliver of hope is keeping them going, along with water therapy which soothes the girls' seized muscles.
"The last seven to eight years have been hard, seeing our kids missing out on so much. There's no quality of life – the hospital has been their second home. When the kids are well, they are generally happy and engaging, and like being outdoors. They love hydrotherapy, being weightless and using their muscles in the water."
Please donate here to help the Taouk family and others around the world suffering from PGAP1 gene mutation.
Neveah Taouk Photo: supplied