Thanks for taking the time to visit my JustGiving page.
This year I've decided to throw myself head on into a challenge that is well and truly out of my comfort zone, the Thames Path 100k Challenge for Fight for Sight. I hope to raise money and awareness on a rare genetic eye disorder called 'Aniridia' mainly because for the last 8 years we have been living with it through our daughter Evie. So please take a few minutes to read our story and dip into our life that is Aniridic.
Did you know that that Aniridia affects 1 in 80,000 people? No? Me neither. If you had told me that when my partner was pregnant with our daughter Evie and she would be born with Aniridia I probably would have looked at you strangely and then frantically googled what it was. When we find out that our wives, girlfriends, partners are pregnant it literally is one of the best days of our lives and all we hope for is a well and healthy baby and that is exactly what we got when Evie was born. She was well, healthy, nice weight and wow what a set of Lungs...gorgeous. There was no reason to think there was anything wrong with her as Doctors and Nurses checked her, though to this day I
don't ever recall anyone checking her eyes? which I assume is part of the procedure before being discharged? Well anyways after 10 months of numerous photos and wondering what colour her eyes might develop into we were at the doctors for a routine check regarding an ear infection when we asked the doctor 'When will we see the colour of her eyes change?' What came next was a little surprising. 'They should have changed by now' and after a little more probing 'She's got dark brown eyes'. Impossible considering both parents have blue eyes, and then ‘I think we may need to refer you’? Well that was the start. After our referral to our local hospital where Evie was treated like a circus freak we were advised to attend Great Ormond Street. My
partner and I had already researched what we might expect to hear but we were silently hoping not to hear it. Then the confirmation and crushing blow of ‘Your daughter has Aniridia'. Instantly we were thinking why us? More importantly why her? What next? We wanted answers. Some we are still waiting for.
So what is ‘Aniridia’? Well what it means is absent iris. Evie has no colour to her eyes Total blackness, beautiful. Like I said earlier it affects 1 in approx. 80000 people. It is known to be either familiar or sporadic. Familiar if it’s been passed down the family gene or Sporadic where it just randomly appears. Evie is Sporadic. Scientific terms mean that the gene which produces the colour in eyes is missing from her DNA known as the PAX6 mutation. How does this affect her eyes? Well it makes her eyes very light sensitive, making her squint. The iris is designed to filter the amount of light that goes in and out
of the eye. So, this mean she must wear specially designed sun glasses most of the time to protect her eyes. She also wears regular glasses with a tint when indoors. When she was first diagnosed she had to have regular checks on her stomach, because the condition she has is linked to other complications like Wilms Tumour. Regular ultra sounds on her stomach and kidneys to keep an eye on
any growths that could turn cancerous. Once we got her blood test back (2 years later but let’s not get into that argument) we were told that she had sporadic aniridia and the chances of contracting Wilms Tumour was very slim. Finally, some good news.
Now let’s get things straight there are a lot more complications to this disorder. There are a lot of other complications linked with this rare genetic disorder. Cataracts, Fovea Hypoplasia, Glaucoma, Nystagmus, Optic Nerve Hypoplasia and Dry Eye. Her eye sight is and will always be affected. She wears glasses because her sight will never be 20/20. She has regular examinations every 3 months at Great Ormond Street (Who have been brilliant since the diagnosis) to check her vision, check the lens, the cornea, and the retina so that there not being damaged. She has eye drops to keep the eye moist.
How do we and Evie cope with Aniridia? Because Evie was born with it, she handles it like it’s part of everyday life. She copes and adjusts where she has too. Everyday this little girl surprises me. She’s aware that she has a condition although she still doesn't fully understand what it is, but she deals with it. She has asked why she doesn't have blue eyes like Mum, Dad and now brother so trying to explain the reasons why can be sometimes difficult. She had eye drop but
Admittedly she's not very good at it but what child is? Sunglasses are always on before venturing outside because of the glare of sunlight. That is her routine. My partner deals with Evie’s condition well and copes when any problems arise, but if I’m honest I don’t cope with Aniridia at all well. I still struggle to come to terms with the fact she has it this condition, my baby girl. We know the condition won’t define who Evie is and will encourage Evie to try new things. Nor will it stop us to try and find a way to slow it down, stop it, prevent it and hopefully one day cure this disease.
So why am I fundraising. Fight for Sight along with Moorfields are investing into research into Aniridia and I am up for doing my bit to help them achieve what potentially could be sight saving not just for Evie but to many other people in the UK and around the world who have Aniridia
For more information please visit the below websites to learn more.