The Patient Perspective: Michelle and Josh

Eye Genetics

“My name is Michelle and my son is a patient at Save Sight Institute. Josh was born with cataracts in both eyes, as well as microphthalmia (small eyes) and also has glaucoma.My husband was born with the same condition, although 30 years ago this was thought to be a fluke occurence, and we had no idea it was genetic until Josh was born.

“It now appears that because of an unknown genetic mutation in my husband, each child of his has a 50% chance of being born with the condition. Known as autosomal dominance, this also means that each affected child then has the same 50% chance of passing on the condition to their offspring, and so on.

“Our little man has had five operations and has worn a contact lens in one eye since he was 5 weeks old. He is doing exceptionally well, thanks to the wonderful doctors at Save Sight Institute, and will start primary school next year at a mainstream school. If he had been born just 20 years ago the outcome would have been very different for him.

“As parents we worry about the future. He still has a very long road ahead, and at each step of the way the vision that he does have will be at risk. Like any other parent we just want our delightful little boy to have a long and happy and healthy life.

“We are excited to hear about the research being done by the team at Save Sight Institute, with such potential for curing or preventing the conditions in other children and families. We especially hope that the research will lead to better treatment options so that my husband, Joshua and the rest of our family, even those not yet born, can lead full and unhindered lives.

“I urge anyone that can to think about contributing to the life-changing research that the genetics team is doing. Everyone’s eyes are important - but children need their vision for a very very long time! The research has such enormous potential to give so many people, both now and in the future, a much better quality of life, from childhood and right through to old-age.”

We would love to hear from patients willing to share their story.
If you are interested please email or call the clinic on (02) 9382 7300