Our son Leo was diagnosed with cone-rod dystrophy in April 2023 at six years of age. He was originally diagnosed with bilateral foveal hypoplasia in January 2022 and underwent genetic testing in August 2022. This determined the correct diagnosis.
At around the age of four, Leo’s eyes were making all kinds of movements, and he would often say he was dizzy. We took him to the doctors but had no real answers. Because of COVID-19, he never had his vision assessed through pre-school or day care. In January 2022, we were on holiday in Manly and I had an appointment with my ophthalmologist. I asked what some of the things Leo was doing with his eyes meant, and she immediately said they were red flags. Luckily, a paediatric ophthalmologist just happened to be doing his rounds that day, and she asked if he would mind squeezing us in. After a few hours and lots of assessments, the doctor said I should ask my husband to come into the room. I immediately knew things were not right at that point.
The paediatric ophthalmologist explained that Leo’s foveal pits were underdeveloped. He diagnosed Leo with foveal hypoplasia with a secondary issue of nystagmus (involuntary eye movements). A few months later, we saw the paediatric ophthalmologist again and he recommended Leo have genetic testing. He also said we should get in touch with Vision Australia.
Bilateral foveal hypoplasia is not a degenerative disease. Soon enough though, we started noticing little things around the house. Leo couldn’t stand bright lights; he was falling over things more often; he couldn’t ride his motorbike very far without crashing; and his night vision was getting worse. Eight months went by while we waited for the genetic testing results. In April 2023, we were told Leo’s diagnosis was actually cone-rod dystrophy, a degenerative condition that will eventually lead to Leo going blind.
While cone-rod dystrophy is not common, there are documented cases. Leo is the first person in the system to ever be diagnosed with the CRX gene number 128 change. The doctors have said that the film behind his eyes is already beginning to deteriorate and to prepare for interventions, including braille and mobility aids such as canes.
Leo is a strong, brave little boy who loves his football and learning at school. Many people comment he doesn’t miss a beat. We think a lot about what the future looks like for him. We live on a farm 20 minutes away from Forbes in New South Wales. We consistently travel back and forth to Sydney for appointments as there is no access to the services Leo’s needs close to us. These become long days for Leo. Thankfully, Leo’s school has been amazing; anything we have thrown at the school has been done, no questions asked.
While we know this journey is going to be a long one with lots of unknowns, it’s our job as parents now to provide Leo with the most amazing experiences that he can remember for a lifetime.
