Finding cures for children's genetic diseases


Swim star's constant battle


Teen Paralympian, Jenna Jones, is progressively losing her vision, but not her determination. She’s just one of the many Australians affected by retinal diseases, which are the leading cause of blindness.

“I always have those moments where I think, I can’t do this,’’ the 16-year-old said. “But then I think, ‘if it was easy – everyone would do it. Then it wouldn’t be special’.’’

Jenna was a happy and healthy little girl who showed no signs of health concerns, until she started sitting very close to the television at home, and then the whiteboard at school. She got glasses, but that didn’t seem to fix anything.

At age five, mum Therese took her to an ophthalmologist who was concerned about how bad her vision was.
“I didn’t take it too seriously until then,’’ Therese said. “Then the specialist told us, ‘she could go blind any day’. I just couldn’t take it in.’’

Jenna was diagnosed with Cone-Rod Dystrophy. It is caused by a genetic mutation and leads to early and gradual impairment of vision.

Once they got over the initial shock, Therese said they decided not to tell Jenna at that time what the outcome may be. “Why burden a five-year-old? We don’t talk about what might happen. Life goes on.’’

Jenna had a significant decline in vision around eight years old, and then again when she hit puberty. What has got her through is sport. At a young age, she reached national level in athletics, cross country, and swimming.

She was aiming to go to the Tokyo Paralympics for swimming in 2020, but qualified for Rio instead and became one of the youngest team members. It was an incredible experience, but life hasn’t been so easy since.

Upon returning home, she realized that the leg pain she had been suffering was the result of a tumour, fortunately benign. She also recently lost the ability to see the giant pace clock which allows her to keep track of her times.

“When I have set backs I think, ‘I haven’t done all this hard work for nothing. If I stop I know I’d regret because I love it. This year has been quite hard, but I’ve got through it and I’m stronger.’’

With this renewed sense of hope for the future, Jenna is training for the Para Pan-Pacific Games.

“It’s full steam ahead,’’ she said. “I try not to let my vision affect me. If I want to do something, I’ll give it a try and if I can’t, there will always be someone to help me.’’

It is hard for Jenna to express the importance of Professor Robyn Jamieson, Head of Eye Genetics at Children’s Medical Research Institute, who found the defective gene that is causing her to go blind.

“To be able to find out what the cause of my condition is, it is like having some closure,” Jenna said.

“I’ve been walking around not knowing anything. You think to yourself, ‘why has this happened to me’. I am one of six kids – why am I different to my siblings?

“Robyn told me how you can’t control these things. She explained it all to me.

“It was so exciting to get that information. It is like having an extra piece of the puzzle. Now I know this is just the cards I’ve been dealt. It has helped me to understand more about myself.

“I’ve been telling everyone it’s very, very important. This research that Robyn’s done is so helpful. It’s so helpful that she’s looked into the cause of my condition.

“Maybe they can find a way to stop my sight deteriorating. Maybe it’s not even about making my sight better, but just stopping it from getting worse.

“That would be amazing.’’

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