James’ Story: Hope For A Brighter Future
As a first-time mum, Ana expected sleepless nights and endless cuddles. Instead, she found herself sitting by a hospital bed as baby James underwent intensive surgery.
“I just wanted to be the best mum and just take him home and cuddle him. In the early stages, it was hard, extremely hard. It was very scary and confronting.’’
When James was born, doctors quickly discovered something was wrong. His eyes were bulging, he was extremely sensitive to light, and he had glaucoma.
Within days, James had genetic testing and was diagnosed with Axenfeld-Rieger syndrome, a rare genetic condition that can impact the eyes and may also cause heart, skeletal, and hearing issues.
“When someone experiences news like this, that their child is born with a genetic condition and that they may not see…. that was devastating,’’ Ana said.
James needed urgent surgery to treat the glaucoma. Within months, he also had corneal transplants on both eyes.
“One of them worked, which was quite amazing. And so that gave us hope that James' vision would be somewhat there. He had a second corneal graft redone a year later, and unfortunately that failed.’’
Today, James wears glasses, uses a cane, and has confidently started school.
“He thrives at school. He thrives with connecting with his peers. His vision hasn't really stopped him from doing the things he wants to do.”
After seeing the work being done in Children’s Medical Research Institute’s Eye Genetics Research Unit, Ana was eager to become an ambassador for Jeans for Genes.
“Our experience in the lab at Children’s Medical Research Institute was amazing. It's such a positive team of experts and scientists researching the eyes and how science can help.”
You can help give kids like James hope for a brighter future.
Donate now and help fund the research that could lead to better treatments and cures for children like James.
As a first-time mum, Ana expected sleepless nights and endless cuddles. Instead, she found herself sitting by a hospital bed as baby James underwent intensive surgery.
“I just wanted to be the best mum and just take him home and cuddle him. In the early stages, it was hard, extremely hard. It was very scary and confronting.’’
When James was born, doctors quickly discovered something was wrong. His eyes were bulging, he was extremely sensitive to light, and he had glaucoma.
Within days, James had genetic testing and was diagnosed with Axenfeld-Rieger syndrome, a rare genetic condition that can impact the eyes and may also cause heart, skeletal, and hearing issues.
“When someone experiences news like this, that their child is born with a genetic condition and that they may not see…. that was devastating,’’ Ana said.
James needed urgent surgery to treat the glaucoma. Within months, he also had corneal transplants on both eyes.
“One of them worked, which was quite amazing. And so that gave us hope that James' vision would be somewhat there. He had a second corneal graft redone a year later, and unfortunately that failed.’’
Today, James wears glasses, uses a cane, and has confidently started school.
“He thrives at school. He thrives with connecting with his peers. His vision hasn't really stopped him from doing the things he wants to do.”
After seeing the work being done in Children’s Medical Research Institute’s Eye Genetics Research Unit, Ana was eager to become an ambassador for Jeans for Genes.
“Our experience in the lab at Children’s Medical Research Institute was amazing. It's such a positive team of experts and scientists researching the eyes and how science can help.”
You can help give kids like James hope for a brighter future.
Donate now and help fund the research that could lead to better treatments and cures for children like James.
"Ana's story is so deeply touching at many levels. James is a gift, a bright, loving boy who deserves a bright future. With the help of his amazing mother and adoring family he will thrive & achieve what he wants in life. We are proud to be involved."