Our daughter, Sofia was diagnosed with a very rare eye condition, called Aniridia, at 6 months of age. Since that day she has seen lots of doctors, has visited many hospitals, been through countless exams and endured many hours of stress, anxiety, and distress.
For 6 years now she has been teaching us the true meaning of being brave, strong and a real fighter.
Like many other children and adults around the world suffering from this disease, Sofia is faced with an unknown future and the possibility of worsening Aniridia-related conditions such as Glaucoma, Keratopathy, Optic nerve hypoplasia, Nystagmus and Cataracts and blindness, to name a few.
WHAT IS ANIRIDIA
"Aniridia is a genetic condition that affects people at birth. The term “aniridia” literally means “without iris” (the colored part of the eye), which is generally the first indication that an individual has aniridia.The lack of the iris is the least of the ocular problems associated with aniridia. Aniridia can affect the entire anatomy – the cornea, the fovea or retina, as well as the lens. As a result, ocular conditions can include glaucoma, foveal hypoplasia, nystagmus, strabismus, dry eye, corneal degeneration, and cataracts.
WHY MOORFIELDS EYE HOSPITAL
In 2012 new research that could offer hope to young people and adults suffering from a type of corneal blindness was underway at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, thanks to kind donations made for Ella, a girl, who like Sofia suffers from the condition.
Moorfields is one of the world’s leading eye hospitals, providing expertise in clinical care, research and education
To date, Moorfields and the Cells for Sight team, have had some success in using stem cell therapy to treat some adults with advanced aniridia. Building on the results of that work--and early data from previous stem cell research--the team decided to focus on the role of defective communication between stem cells and their supporting cells in the cornea.
WHY WE RAISE MONEY
We want to do more for Sofia and others like her so one day they will have the possibility to experience the world like the rest of us. Inspired by many other parents of visually impaired children around the world I decided to help Moorfields Eye Hospital in London and Professor Daniels' team raise money that will be directed to their current research project on Aniridia.
WHERE YOUR MONEY WILL GO
Donations will go DIRECTLY to the Cells for Sight Team and Dr Daniel's work.
Availability of human aniridia tissue samples for research is limited (approximately one sample per year as surgery is usually avoided where possible). To maximize the use of the precious cells we have already collected from three aniridic corneal tissue specimens, we propose to create stem cell lines (induced pluripotent stem cells – iPSC) with the potential to form every cell type in the cornea. This technology could in the future lead to combined stem and gene therapy for aniridia.
We will use these iPSCs to attempt to create the first 3D model of human ARK in the laboratory. If successful, this model will allow us to investigate the mechanisms underpinning ARK (what goes wrong between stem cells and their support cells) and help us to develop novel therapeutic strategies to ideally prevent, but at least delay the onset of visual impairment caused by ARK.
HOW I AM TRYING TO HELP
I started training on my own, hoping to be able to take part in running events and raise money for the research team but in 2015 a sudden Multiple Sclerosis diagnosis created a setback.
Determined to do my bit for my daughter and all the other lovely families I have been fortunate enough to get to know over the last few years... I have resumed training. Some days are hard, the hurdles are many.
I started by committing myself to run 5km in October and 10km in May of 2016. However, since then, I have taken part in more than 10 races, including 10km tough trail runs!!
On 17/09/17 I will be running the 16km Dam tot Damloop in Amsterdam and on the 8th of October I will be attempting a half marathon in Eindhoven.
With your help, we can make a real difference to many people's lives who are threatened by blindness.
THANK YOU SO MUCH FOR YOUR DONATIONS.