Kerry Moore had tried ophthalmologists and pediatricians, a children’s hospital and an adult hospital, light tests, genetic tests and various vision tests in trying to find the cause of her son’s encroaching blindness.
Nobody had an answer.
“This is something you’re just going to have to live with,” one ophthalmologist told them, and the then 14-year-old Cian withdrew into his computer while his friends slipped away.
Then Ms Moore’s parents saw a television program discussing a cutting-edge treatment for people with similar symptoms, and in desperation she booked a flight from Perth and an appointment with Sydney ophthalmologist Stephanie Watson to see if it would be suitable for Cian.
“We were terrified that he was going to lose his sight,” Ms Moore said. “It seemed to be getting worse.”
But when Professor Watson examined Cian, she diagnosed him with a condition much more banal than the rare disease his mother anticipated.
“She looked at him for a minute and said, ‘Do you know what this is?'” Ms Moore said.
“And I said, ‘No, nobody can tell us, what is it?’ And she said, ‘It’s vitamin A deficiency’.”
Since he was five or six, Cian’s fussy eating habits – nothing except chicken, potatoes, dry bread and Coke – had left him so malnourished he was going blind.
Professor Watson had become familiar with the phenomenon from her time working in Kenya as a medical student, and it was the fourth case she had encountered in Australia.
“It’s associated with a bit of food faddiness where kids might not like food textures and tastes so they end up with this incredibly bland diet,” said Professor Watson, chair of the Royal Australian and New Zealand College of Ophthalmologists [RANZCO] public health committee.
“We need a certain amount of vitamin A and without it the cells don’t mature normally.
“They don’t become eye cells, they start going down another path like skin.”
The classic sign is the formation of “Bitot’s spots” on the surface of the eye, formed by a build-up of the fibrous substance known as keratin.
But often the cases were missed because the patients did not look skinny or malnourished, and specialists had not thought to ask them about their diet, Professor Watson said.
“It’s something about this combination of chips and Coke that you don’t get your nutrients, but you feel full.”
Vitamin A deficiency is the most common form of malnutrition leading to blindness worldwide, but it is rare in Australia.
RANZCO chair Brad Horsburgh said he had only seen one case in his career, whose diet was similarly confined to white bread.
“Every medical student knows about it but nobody has ever come across it,” Dr Horsburgh said. “It’s perishingly rare.”
Professor Watson’s previous cases, reported in the Medical Journal of Australia, include a 52-year-old man with self-diagnosed food intolerance who had eaten only potatoes, white bread without butter or margarine and cola since he was a child, complaining that any other food made him vomit.
He developed tunnel vision and night blindness, but completely recovered after taking a course of dietary supplements and cognitive behavioural therapy.
But a 12-year-old boy whose diet consisted of hot chips and nuggets was not so lucky.
Not only was his vision poor, his eyes were so dry that he had been wiping them with a moist cloth and developed an infection.
A year after receiving treatment his vision in the left eye remained poor and he only had light perception in the right eye, presumed to be the result of irreversible damage to the optic nerve.
Cian, now 16, took heavy doses of Vitamin A for a few days and started drinking vitamin shakes regularly.
The vision in his right eye has almost completely recovered, but the damage to his left eye is permanent and Ms Moore has struggled with feelings of guilt.
But he has regained his friends, returned to football and recently got his learner’s licence.
He also eats vegetables.
“He still holds his nose and that’s how he gets through it, but this is his life and there’s no messing around any more.”