The parents of a brave little girl who lost her eyesight are continuing their mass fund-raising efforts for pioneering research – with the dream that it could one day help her see again.
Ella Chapple, who lives near Guyzance, was born without irises, suffering from the rare genetic condition aniridia, that can lead to blindness.
The eight-year-old is also thought to be the only child in Northumberland who has deafblindness – a combination of sight and hearing loss that affects a person’s ability to communicate and get around.
Last year, Ella lost her vision following five major operations to try to save it. She had detached her retinas through head-banging – brought on by frustration as her deafblindness had not been diagnosed until spring 2014.
Over the last four years, her inspirational parents Elly and James have raised more than £100,000 to support critical aniridia research under Dr Julie Daniels and her team at London’s Moorfields Eye Hospital.
And at the start of next month, her 40-year-old father will be joined by a team of 20 other hardy cyclists to tackle a 100-mile bike ride in London to raise money for the cause.
It is the third and final time that he and others will take on the challenge, taking them from the Olympic Stadium to Buckingham Palace, and it is hoped that thousands of pounds will be added to the cause.
James said: “We hope this pioneering research will protect others with aniridia and one day enable our daughter to regain some useful vision.
“It was devastating when she lost her sight and it would be a dream come true if, somewhere down the line, this research could help her see again.”
Aniridia presents sight-threatening problems in different parts of the eye due to a mutation in a gene called PAX6. Proper functioning of this gene is vital for eye development and vision.
Some patients develop a condition called aniridia-related keratopathy (ARK). ARK can develop during late teens or early twenties and results in potentially blinding scarring of the normally transparent cornea on the front of the eye. This is because the stem cells, which normally maintain the cornea throughout life, are compromised by the PAX6 mutation.
The funds that have been raised in Ella’s name has gone towards the goal of creating, for the first time, a human tissue model of ARK to be used to understand the disease better and therefore develop new treatments.
Researchers say that a significant breakthrough has been their ability to grow ARK cells and use them in experiments to mimic aspects of the disease process. It is anticipated that this will lead to the development of new treatments for aniridia.
The cycling team have already raised more than £2,000 for their upcoming efforts on Sunday, August 2, but they are determined to hit the £10,000 mark.
Elly, 39, hopes that money raised for crucial research will one day lead to breakthroughs which will help children like Ella who have lost their useful vision and develop new treatments for aniridia.
She said: “There is always hope. Science has delivered many amazing achievements in medicine.
“With the technologies becoming available to us, the possibilities for significant advancement in aniridia research and treatment are increasing.”
While Ella suffers from aniridia, her parents admit that it was a shock for her to lose her vision last year.
James said: “Unfortunately, having aniridia means that your retinas can detach, but we never thought that would be the case for Ella.”
Elly added that the deafblindness wasn’t recognised until last year, causing Ella severe stress and frustration.
She said: “Ella had to have five operations in the space of four months to try to save her sight, because she had effectively detached both her retinas through head-banging.
“The operations weren’t successful. They partially reattached some of her retinas but Ella lost the useful vision due to the head-banging and stress.”
The family say that the deafblindness wasn’t diagnosed until after the final operation in April 2014.
Her parents admit that Ella’s journey has been a rollercoaster ride, but she is fighting back against her tough ordeal.
James said: “Ella is the bravest girl in the world.
“She has been through enormous difficulties medically, but she has faced each one with the strength of a thousand men.
“She was suddenly thrust into a world of unknowns and darkness, but she has come back fighting again and is going from strength to strength.”
The plucky youngster, who is older sister to Reuben, five, and Hattie, three, is receiving specialist support from deafblind intervenors, which Elly describes as ‘a human form of a guide dog’ and Ella’s ‘eyes and ears’.
It is helping her come on leaps and bounds.
James said: “The intervenors have found a way of teaching Ella to have confidence about herself and express herself.
“She is learning at an exceptional rate and she is doing phenomenally well. Nobody can believe it.”
Elly added: “I am so proud of how she handles it and what she copes with on a daily basis. She doesn’t whinge or complain.
“She puts up with the fact that people forget that she can’t talk and they think she doesn’t have any thoughts.
“But this is a little girl who is eight years old who has got needs and wants like any other eight-year-old.”
Amy Anderson, who is one of Ella’s deafblind intervenors, admitted it is rewarding to help Ella.
She said: “We take things like sight and hearing for granted, but for her it is so difficult to try to communicate and try to move forward, but the road we are going down at the moment is working for her.”
Justine McHugh, another of Ella’s intervenors, added: “It is like translating the world to her and what is going on around her.
“When she walks into a room, we tell her what’s happening and where the walls are so she can feel her way around so she is not in the middle of nothing.”
To sponsor the cycling team for their upcoming efforts, visit www.justgiving.com/fqdt2015