The Fairy Queen
Our daughter Ella was born in 2006. My pregnancy had been classed as ‘normal and fine’ and we were looking forward to our bundle of joy as all parents do.At 36 weeks, life changed dramatically and our story began. A consultant spotted possible problems and thus started Ella’s journey into life.
When she was born, we were initially told that she had Downs Syndrome owing to her single palmer creases. We realised fairly quickly that the hospital and specialists didn’t know anymore than we did what the matter was. So we waited for the genetic testing and the outcome: A chromosome disorder, which included the unheard of condition Aniridia.
While we were being talked through the problems that lay ahead for Ella, and trying to cope as new parents at the same time, we swung between extremes of managing and not coping at all. It was such a frightening time for us. What was meant to be a joyous occasion was a journey into the terrifying unknown.
Breath of life
She had breathing problems for her first 18 months of life, which resulted in visits to Great Ormond Street and using a 9cm tube in her right nostril, which I had to make up and insert each evening. She eventually saw the back of that when she was 2 years old and promptly stood up and walked! We never thought we would see that happen!
The 'C' Word
Unfortunately our happiness was short lived as the month following, during a routine scan of her kidneys, they spotted bilateral lumps. While we knew this happening was a possibility from day one, we thought she had bypassed that horror.
We had been forewarned and knew what would happen, but NOTHING can prepare you for your child to have chemotherapy and its side effects and serious surgery. 2009 was a very long year for Ella and for us to watch as she endured the treatment. Her strength of character and resolve shone through and made us very thankful for the tiniest things in life.
In true Fairy Queen Style Ella triumphed through that long year and had a clear CT scan after her 3 birthday.
It's a kind of magic...
Ella has coped with things in the first 3 years of her life that most of us would never have to cope with in an entire lifetime. She has done so with pure strength of character, laughter, determination and the energy worthy of an Olympic athlete!
Save Ella's Sight
At this point she is such a happy little girl, developing and catching up and she has an insatiable appetite for life and touches all those who meet her with her magic. We know that the reality is her sight could be lost or become very poor; such is the nature of Aniridia. We cannot stand by after 3 years of her courage and bravery and not try and make sure that the cure for this condition is funded and found.
So I thank you for reading this, from the bottom of our hearts and I thank you for choosing to support the Shine the Light on Aniridia Campaign, and Ella the Fairy Queen and those in her shoes.
Thank you
Elly, James, Ella and Reuben
www.cureaniridia.co.uk
Shine the Light on Aniridia Facts
* First described by Barratta in 1818, Aniridia = absence of iris (in Greek)
* According to a study in Denmark, the condition affects 1 in 96,000 newborns
* 30% of children with Aniridia may develop Wilms Tumour before the age of 5 years old
* Glaucoma is a huge risk for aniridics and causes raised eye pressure and can lead to blindness
* Eyes appear ‘black in colour’
* Fovea and optic nerve hypoplasia (underdevelopment of these mean messages are not correctly received by the brain for vision)
* Leads to worsening eyesight and often blindness
* Severe photosensitivity (bright light causes huge problems), headaches, the need for hats outside or dark glasses, shade is paramount
* Corneal pannus – scarring of the cornea, reducing vision to seeing only differences between light and dark eventually, due to lack of working stem cells
The science bit……by Dr Julie Daniels, Cells for Sight Campaign Research, Moorfields Eye Hospital
Aniridia is an eye disease that can lead to blindness by affecting several parts of the eye. From the outset the vision is often reduced by the fact that the area of central vision, the macula does not develop fully. This is known as macular hypoplasia. However despite this, patients with Aniridia develop sufficient vision to navigate safely, recognise friends and family, read with the help of special reading aids and have sufficient eyesight to live a very fulfilling life.
However there are two conditions that can particularly threaten the precious eyesight that these patients are so reliant on. These are glaucoma and Aniridia related keratopathy.
Glaucoma, which is a build up of pressure in the eye, occurs in up to 50% of patients, usually starting in childhood. With early diagnosis and proper treatment, the vision can be preserved. Therefore vigilance and early treatment are paramount.
Keratopathy is a condition usually occuring in early adulthood (20s) but can occur in mid to late childhood. The cause is not fully understood but we believe that the stem cells that are responsible for keeping the front clear window of the eye (the cornea) transparent start to malfunction. This causes the cornea to lose its clarity and instead become opaque. As a result the patient cannot see through the cornea and vision becomes progressively poorer. Also, because the skin on the surface of the cornea is unhealthy, it tends to break down, causing painful ulcers.
Until recently, treatment for Aniridia related keratopathy has aimed to relieve discomfort using contact lenses and eyedrops. Recently, the Cells for Sight Transplantation and Research Programme has treated several adult patients with Aniridia using stem cell therapy. The early results are promising but far from perfect. It is possible in some cases for vision to be improved from perception of hand movement to reading the larger letters on an eye test chart.
However, this outcome may not be enduring and has not been experienced by all patients treated. This could be for many reasons. Our early data suggest that defective communication between different cell types in the cornea play a significant role in this disease. To prevent Aniridia-induced corneal blindness it would in the future be necessary to treat children. Therefore it is imperative that we have a better understanding of the basic biology of disease progression in Aniridia in order to improve our existing therapeutic strategy and to develop novel therapies that may preserve or improve vision for longer.
How you can help
Donate through Just Giving and please Gift Aid!
You could hold a sponsored event for us! The list is endless but here's a few ideas:
Hold a Fairy Tea Party
Have a sponsored toddle
Run a marathon
Climb a peak
Ride for miles
Hold a coffee morning
Jump out of a plane
Sponsored head shave or wax
Jeans day at work
Swear box!
Sport days - allow children of all ages to take part in outdoor activities. You can organise kid-friendly activities like a sack race, horseshoe toss, dodge ball and three-legged races, and you can also sell food
If you live near the sea, organise a beach party for your local community. Charge party goers for beach-themed food and drinks, as well as games like beach volleyball. You can even have a beachwear fashion show!Organise local teams to play in a football or rugby tournament, charging admission for the spectators and selling food at the event.
Design a special trophy for the winners and make it a yearly event in honour of your fundraising cause.
Odd jobs for neighbours and fundraise with their payments
Street party
Hold a car boot or garage sale
Have a fundraiser dinner party
Cheese and wine evenings
Throw a themed party – 60s, 70s, James Bond, X Factor
Karaoke night
Pie and pints
Quiz night
For sponsorship forms/any other information, please contact us at info@cureaniridia.co.uk or write to us at:
Fairy Queen HQ, The Old Forge, Hipsburn Farm, Alnwick, Northumberland NE66 2SB
Donating through JustGiving is simple, fast and totally secure. Your details are safe with JustGiving – they’ll never sell them on or send unwanted emails. Once you donate, they’ll send your money directly to the charity and make sure Gift Aid is reclaimed on every eligible donation by a UK taxpayer. So it’s the most efficient way to donate - I raise more, whilst saving time and cutting costs for the charity.
So please dig deep and donate now.
