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.

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
Childrens 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 Erics only child â“ 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.

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 â“ 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 Childrens 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
Institutes 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 Soras 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 â“ it will make her life change and will change everyone
else's life.

Soras 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.