Meet the little girl forced to wear sunglasses even in the depths of winter
PUBLISHED: 15:48 08 July 2019 | UPDATED: 11:06 09 July 2019
Jamie Honeywood Archant Norwich Norfolk
Even in the depths of winter two-year-old Rhiannon Kay is forced to wear super-strength sunglasses to protect her delicate vision.
The toddler, from Alpington, near Poringland, was born without irises due to a rare mutation which caused the condition aniridia.
It means Rhiannon, who loves nothing more than to play with her Disney figurines, has eyes which are completely black with no visible pupils and no colour.
She is unable to control the amount of light entering her eyes, and so must wear strong sunglasses to filter out damaging UV rays, as well as having poor vision.
And the youngster has even developed cataracts, a condition more associated with those of her grandparents age, due to the rare condition.
"We found out the day after she was born," said Rhiannon's mother Teresa, 36.
"It was in the newborn checks and her pupils didn't move when they shone the light in them."
Mrs Kay, and husband Vaughan, feared their first born might be completely blind when her eyes would not track or follow anything for the first four months of her life.
But soon specialists diagnosed aniridia, a rare condition which affects just two people in every 100,000.
Just 1,350 people in the UK have it.
Rhiannon's strain of the condition is thought to be even more uncommon, as her PAX6 gene - the gene usually associated with the condition - is normal, and her parents have no idea what has caused their little girl's plight.
"The first six months were horrendous," Mr Kay, an auto technician, said, as they feared Rhiannon could have a form of the condition which could cause kidney cancer.
Mrs Kay said: "It was so scary because we didn't know whether she was going to get these kidney tumours or cancer. It should be a time where you are enjoying your baby but it was anything but."
Fortunately the youngster avoided that strain but 38-year-old Mr Kay said: "She's not got any irises, she's extremely light sensitive, if you imagine when something is over-exposed on a camera, that's how it appears to her."
He said although it was difficult to know what vision was like for Rhiannon, they suspected it was something like tunnel vision, and when she was younger her eyes would roll around uncontrollably.
Although now Rhiannon has learned to cope Mrs Kay, a piano and keyboard teacher, said: "The things she struggles with at the moment are depth perception, when we take her to the park she falls over as the ground changes levels, and she struggles with stairs."
However she had developed a heightened sense of hearing, and was able to pick up on sounds her parents often missed.
Mrs Kay added the family had installed blinds around the house to control light levels and she said: "Rhiannon always has to wear sunglasses outside, and a hat, even in the winter."
But that had prompted some thoughtless remarks from people, Mr Kay said, for example when one person said that due to her glasses she looked like musician Elton John.
"It does make you take a few deep breaths," he said.
"You have to bite your tongue."
Mrs Kay added: "Another one is people will comment on her sunglasses, as she has a pair of Ray Bans. But it's not a fashion statement, she's got to have good quality sunglasses."
Due to her condition Rhiannon also suffers with nystagmus, also known as involuntary eye movements, which means she will sometimes turn her head to one side just to be able to look straight ahead. And in the future she could be prone to glaucoma and cornea disease, which could worsen her vision even further.
At the moment she struggles to see things which are far away.
But Mr Kay was sceptical over newly-developed treatment abroad, where synthetic irises had been fitted.
"There's nothing at the moment," he said. "And [with the synthetic irises] they're static, and could be even worse.
"It's considered that the more surgeries they have on their eyes, the worse their vision will become."
It means that for now, adjustments may need to be made when Rhiannon starts school full time, and family beach holidays are out of the question due to the strong sun rays.
Mrs Kay added: "We just want her to be happy and get along like everyone else."
A team of well-wishers are raising money for two charities on Rhiannon's behalf.
Mr and Mrs Kay have been joined by Thomas Thorpe, Vicky Grimmer, Alice Coyle, Ollie Finn, Dan Coverdale and Russell Lord for a number of cycling events, with the aim of raising £1,500 to split between the Aniridia Network and Vision Norfolk (previously Norfolk and Norwich Association for the Blind).
Already they have competed in the Tour De Broads 100-mile route in May and the Norwich Cycle Swarm's 70 miles on July 7, and £1,100 is in the pot.
Still to come are the Tour De Broads summer - another 100-mile route - in August, and the Dusk Til Dawn 12-hour Mountain Bike Night Race in October.
"We felt we needed to do something and more and more people wanted to get involved," Mr Kay said.
To donate to their fundraising bid, visit www.justgiving.com/companyteams/RhiannonKay
What is aniridia?
According to the Royal National Institute of Blind People (RNIB), aniridia is where the iris - the coloured part of the eye - is either missing or is underdeveloped.
People with the condition often have very large pupils, which can also be an unusual shape because so much of their iris tissue is missing.
And most people will have a central part of their retina which is not fully developed.
It is usually caused by a faulty gene, and there is currently no treatment.
Without an iris, those with the condition cannot control how much light enters the eye.
In healthy eyes, more light is allowed in when conditions are dim, so a clear picture is formed on the retina. And less light is allowed in when it is bright, to protect it.
But those like Rhiannon cannot do that, so have to wear sunglasses when she goes outside.