Age 8, Genetic Blindness
Young Gem has never known life with full vision, and her parents have one simple hope - that research will ensure that she is able to keep the little sight that she has.
“We had so many losses that we were just happy that our kids were alive and that the conditions they have are, yes definitely challenging, but not insurmountable.’’
Parents Dee and Michael tried for many years to start a family, and suffered many miscarriages - so when their eldest daughter Pip was born with hearing loss, they were simply glad to have a baby. When their second daughter Gem was born with genetic-related vision loss, completely unrelated to Pip’s condition, they were equally as quick to adapt.
As is the case for many genetic conditions, the cause of Gem’s vision loss was not immediately obvious. After much testing it was finally discovered that she has a rare genetic disorder called Peter’s anomaly, which causes a thinning and clouding of the cornea, and Gem uses a cane for mobility and is learning braille.
What has impressed Gem’s family so much has been seeing how her ophthalmologist has collaborated with the scientists like Professor Robyn Jamieson at Children’s Medical Research Institute to finalise her diagnosis and look at options for the future.
“When we go in, and we see the doctor, we're not seeing one doctor, we're seeing a team,” Michael said. “And that team isn't just a medical specialist in a hospital, there aren't barriers like that.
“Robyn and her team at Children's Medical Research Institute are collaborating directly with the on-the-ground doctors and they're bringing the therapies straight into play. It really leverages the power of their research and their bright minds with one of the best health systems in the world.”
The family realise that Gem’s vision may not be reversible, but they are hoping that research will halt further deterioration of her eyesight, and are urging the community to invest in this work.
“We live in a world where we always expected this new stuff, bigger phones, cheaper phones, TVs - but in the end, the thing that's important for all of us is our health and our quality of life,” Michael said.
“The importance of giving is that it comes back to you one way or the other. You may not individually have a genetic health condition, like both of our kids do, but a therapy that initially is very focused on one condition, becomes a platform, which builds up and suddenly it's treating hundreds of conditions. And we're seeing this happen in front of our eyes. So really, when you give, it certainly helps our kids, but in the end, it gives back to yourself because it's helping the future.’’
Watch Gem's Story
How research is helping kids with vision loss, like Gem
The Eye Genetics Research Unit aims to understand the genetic causes of eye diseases to improve diagnosis, and develop new treatments like gene therapy.
Your support of Children’s Medical Research Institute by participating in Jeans for Genes makes all this and more possible.
