Supporting Charlie and Aniridia

Sunday 16th February 2014... 12.30pm I got the phone call I had been waiting for. My sister, my best friend had gone into labour and was due to give birth to my nephew. As a mother myself having given birth to my own daughter and loved every minute of the birth experience I was thrilled to have been asked to be her birth partner.
Fast forward 7 hours and 45 minutes...after 9 problem free months of pregnancy and a labour that sailed so smoothly at 8.05pm little Charlie Bell was born, all 7lb 5oz of him.
That first cuddle was amazing, that recognizable smell of a new born baby took me right back. I was so proud of Laura and this little man before me, he was here, the wait was over but we was yet to discover our joy would be short lived.
The next morning we awaited the phone call to say Laura and her little bundle of joy could come home... sadly the only phone call we got was to say Charlie wouldn't be coming home that morning, they had picked up a problem with his eyes and he would remain in hospital with Laura until Charlie had seen a specialist.
After a long and upsetting 2 weeks of tests, numerous consultants, scans, trips to Manchester and an operation at just 14 days old Charlie had a diagnosis. ANIRIDIA. The condition that affects just one in 66,000 people, a condition that is so rare and unheard of that its UK charity only received £3500 of donations last year.
Aniridia is the absence of the iris, the coloured part of the eye. Not such a big deal you may think. Charlie is registered as blind. he has aniridia in both eyes. He was born with one eye smaller than the other. He will almost certainly be completely blind in this eye and have very limited vision if any in his other eye. His eyes can not control the amount of light that enters his eyes as mine and yours would do by the dilation of pupil meaning Charlie screams in pain if he greeted by light. Just being near a window, going outside, the lights in the super market, all these cause Charlie discomfort. At just 4 months old he has to wear protective sunglasses to protect his eyes from any kind of light, a blanket over his car seat to simply get him from the door to the car, a black out canopy over his pram every time he goes out in his pram, his mother praying for dark winter to come early to protect her son from the bright late nights the summer months bring.
Along with the aniridia condition itself Charlie has cataracts and glaucoma. Associated with the aniridia is a condition called WAGR which causes tumours of the kidneys. Charlie and Laura have had genetic testing to see if Charlie has WAGR syndrome and also to see what risk there is of Laura having further children with the same condition. The results will not be available till October. We wait and pray that Charlie will get the all clear.
Aniridia Network UK is a support group and charity concerned with the rare genetic disorder Aniridia. For over 10 years Aniridia Network UK has been helping people with aniridia as well as their families and doctors to be hopeful, confident, supported and well informed about aniridia and related issues. Laura attended a conference in Bristol recently put on by this poorly funded charity which provided Laura with a wealth of information and support and gave her the opportunity to meet other family's and children with the same condition and put her in contact with the support groups she needs to be able to raise a child with visual impairment. With only £3500 of donations made to the charity last year i have decided to take on a challenge to raise money for this charity.The charity hopes to raise just £4500 this year, if I can just make a small dint in that this year I would be happy.
Being probably the un-fittest i have ever been and less than 3 weeks worth of training time before the event this will be a challenge for me but one look at my little nephews face provides all the encouragement i need to do this.
I will be taking part in the Great Manchester swim, a one mile open water swim in the docks off the Manchester Ship Canal. I have been laughed off already by my nearest and dearest, I have never swam in open water, I haven't swam or exercised in over a year and have minimal training time to train for this event on the 19th of July.
Please do whatever you can to support not me but the charity that is close to my heart, my family's heart, Charlie's mother Laura's heart and during his life will continue to be a part of her beautiful little boys life.