Sora
Parents have all kinds of dreams for their children but Kanae just hopes that one day her daughter might see a dolphin jumping in the ocean, or maybe even a rainbow in the sky.
“We talk about rainbows, we talk about oceans, we talk about dolphins all the time,’’ Kanae said. “And I am always telling her in the future – one day – we can see that together. But as a mum, it's just really hard for me to say, you can't see – forever.’’
Sora, now aged 4, is one of the faces of the 2021 Jeans for Genes campaign which raises funds for the vital work being done in the labs at Children’s Medical Research Institute. The ongoing pandemic over the past year has shown the critical importance of research and its ability to change the world. Imagine what would be possible for the 1 in 20 kids facing a birth defect or genetic disease - if we all invested in research.
Sora is Kanae and Eric’s only child – who were so overwhelmed with joy when she was born. When she was a few months old, they noticed her eyes would move around the room a lot, finding it difficult to focus on one point. After several appointments, Kanae and Eric were told that Sora had a condition known as Leber Congenital Amaurosis and that she is legally blind.
“It was a big emotional roller coaster because you were so happy to have a child and then all of a sudden you are shocked, because you feel like something has been taken away from her that is critical to supporting her in her life,’’ Eric said.
Kanae is unable to remember much about the day of diagnosis.
“I was just crying, crying, crying,"
At the moment Sora can see light and detect large shapes within close proximity. She uses a cane and is learning braille rapidly.
“This condition is progressive. So, it means it can deteriorate very soon – when she becomes a teenager, she might not have much vision left.
“I just want to give her hope as well. It's just really sad for me to say to her, there is no cure, there is no hope, you have this condition, you have to deal with it forever.’’
Eric said they decided to become involved in Jeans for Genes after meeting Professor Robyn Jamieson from Children’s Medical Research Institute who is doing ground-breaking work in the field of eye genetics.
“The research is very important to us,’’ Eric said. “Because we know that with research, there's a hope for Sora to get better, to perhaps restore vision. And we found out in Australia, things are happening.
“Finding Professor Robyn Jamieson from Children's Medical Research Institute’s work is so exciting. For us, it was a breakthrough that to see genetic research being done right here in Australia. It has given us hope to get, you know, therapy that might fix Sora’s eye condition. And that's what's so valuable to us and to so many children around the world. Because if you know what that little faulty gene is that needs to be fixed – it will make her life change and will change everyone else's life.’’
Sora’s family have become involved in Jeans for Genes because they now realise how common genetic disease is, impacting 1 in 20 children.
With your help we can make a difference for future generations.