Shortly after being born in 2006, Ella was diagnosed with WAGR syndrome, a rare chromosome disorder. Babies born with this syndrome often have no iris in their eyes, a condition called aniridia. They also have a 50% chance of developing Wilms Tummor, a cancer of the kidneys that typically occurs in children, and they are also prone to genitourinary problems and mental retardation.
Last year, during a routine checkup, Ella was found to have developed kidney cancer. After a long and difficult treatment, which included a surgical procedure and chemotherapy, she was declared cancer-free.
Ella is now three years old and her parents, James and Elly, are concerned about the possibility of her eyesight being lost or becoming very poor due to the aniridia. They have turned their hopes to the Moorfields Eye Hospital in London (United Kingdom). “It’s something I believe could be cured in this day and age,” said Elly earlier this year to JournalLive. “Especially with the stem cell technology that’s out there.”
Recently, the Cells for Sight Transplantation & Research Programme has treated several adult patients with aniridia using stem cell therapy. “The early results are promising but far from perfect” says Dr Julie Daniels, who leads the programme at Moorfields. “This outcome may not be enduring and has not been experienced by all patients treated. 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.”
To pursue the research and find a treatment for their daughter, James and Elly are raising money for aniridia research. With the cooperation of JustGiving, an online charity platform, they launched Shine the Light on Aniridia. “We know that the reality is her sight could be lost or become very poor; such is the nature of aniridia,” says Elly. “We cannot stand by after three years of her courage and bravery and not try and make sure that the cure for this condition is funded and found.”
How can you help?
If you want to donate or contact Ella’s parents, please visit the Shine the Light on Aniridia website here. Donations will be handled byJustGiving.
What is WAGR syndrome?
WAGR syndrome is a rare genetic condition that can affect both boys and girls. Babies born with WAGR syndrome often have eye problems, and are at high risk for developing certain types of cancer and mental retardation. The term WAGR stands for the first letters of the physical and mental problems associated with the condition:
- Wilms Tumor, the most common form of kidney cancer in children
- Aniridia, some or complete absence of the colored part of the eye, called the iris
- Genitourinary problems, such as testicles that are not descended or abnormal location of the opening for urination in boys, or genital or urinary problems inside the body in girls
- Mental Retardation
People can have WAGR syndrome but not have all of the above conditions. Most people with WAGR have two or more of these conditions.
What is Aniridia?
Aniridia is a rare congenital condition characterized by the underdevelopment of the eye’s iris, the circular structure that gives the eyes its color. This usually occurs in both eyes and is associated with the poor development of the retina. Vision is severely compromised, being the disorder also associated with a number of other complications with the eye.
Sources: Aniridia Network UK, CheckOrphan, International WAGR Syndrome Association, Journal Live, Shine the Light on Aniridia