Sydney-based mother Joanne would never have suspected that her son Josh would be diagnosed at age eleven with a rare eye condition called Keratoconus that causes the cornea to shift and change shape, resulting in distorted vision and potential vision loss. Now nearly fifteen, Josh never lets his condition prevent him from doing the things he loves; however had his condition been detected earlier it may have been preventable.

Passionate about the plight of eye health, Joanne and her son Josh have again joined The RANZCO Eye Foundation as supporters of their annual JulEYE campaign for 2012 to encourage all Australians to have their eyes regularly tested – no matter their age.

The RANZCO Eye Foundation sat down with Joanne to talk about her son’s experience with Keratoconus and why caring for your eyesight is so important.

When did you first notice Josh was having difficulty with his eyesight?

When Josh was about nine years old we noticed he was having difficulty reading so we took him for a fairly routine eye checkup as we simply thought he may need prescription glasses. The optometrist mentioned that Josh might have a slight stigmatism but that this was quite common and that he would most likely grow out of it. We went home that day and didn't really think any further about it until about 18 months later when we were sent a letter in the mail from the optometrist reminding us about a routine checkup that Josh was due for.

When did you find out that Josh had Keratoconus and did you know much about it at the time?

It was only at the second optometrist appointment 18 months later when Josh was about eleven that we were told he had a condition called Keratoconus affecting his right eye (his left eye was only minimally affected). As you can imagine we could barely pronounce the name of the condition let alone know what it was. So we went home and started to do some research to find out what exactly we were dealing with. Because Josh was so young we obviously didn't want to terrify him by with bombarding him with all the facts and figures and statistics. We only told him the basics and that we would do everything we could to resolve this. That was when we made an appointment to see Dr. Chan – Josh’s ophthalmologist. I honestly believe Dr. Chan is one of the reasons Josh has been so brave and optimistic throughout this whole ordeal; he is just so lovely and simply radiates a positive energy and sense of optimism.

What is Keratoconus and what does it mean for Josh’s eyesight now and into the future?

Put simply, Keratoconus is a degenerative disorder of the eye in which structural changes within the cornea cause it to thin and shift to a conical shape. This can cause serious distortion of vision and sensitivity to light, and depending on the severity of the condition and whether it is in one or both eyes it can affect your ability to perform everyday tasks such as reading.

Two years ago Josh had some collagen cross-linking treatment that stabilizes the cornea and prevents it from shifting further out of shape. Unfortunately this treatment doesn't actually restore the damage that had already occurred and because Josh’s condition was already quite advanced when it was diagnosed it wasn't possible to restore his sight entirely.

Josh is nearly 15 years old now and he really is just like every other teenager his age. He is so brave and has never let his condition affect his day-to-day life or restrict him from doing what he loves. He goes to school, plays sport, sees his friends and just gets on with it. Josh has never let Keratoconus define him as a person.

Looking into the future, of course as a mum I do worry about certain obstacles Josh will have to face when he gets older such as learning to drive and finding a job; but he is such a great, optimistic young man I know he will achieve anything he puts his heart and mind to.

What is your advice to other parents when looking after their family’s eyesight?

It's so hard when your child is young, like Josh was, when he was diagnosed with Keratoconus. He was such a brave boy. He never complained that he was having trouble seeing, or that his eyesight was bothering him.  Josh didn't seem to realise he had anything wrong with him. As we found out years later from Dr. Chan – children often see things in a different perspective anyway so he would have just thought what he was seeing was the norm. He had no reason to think, or expect otherwise – it was simply what Josh was used to seeing. The only symptom I remember Josh showing was that he would often rub his eyes - which is apparently quite common in people with Keratoconus.

It breaks your heart as parents to know that your child had to deal with something like this all on their own without you knowing, but it’s almost impossible to tell unless they are showing obvious physical signs and symptoms, or unless they mention something to you.

Therefore, as parents we really have to “see” for our kids. We have to be proactive with their health and medical check-ups and really look out for any changes or inconstancies in their behaviour or abilities, as they may not always be able to pick up on signs and symptoms themselves.

What is your message to all Australian’s this JulEYE?

I would encourage all Australians no matter their age to have their eyes tested regularly! For families in particular, I would insist they add a regular appointment to their family’s medical calendar just as they would for immunizations, the dentist and the GP.

Within six months, Keratoconus had destroyed poor Josh’s eyesight and as much as I can’t bear to think about it, had we known to look out for something like this earlier we may not be in this situation. It happens so fast and every day it goes undiagnosed makes a difference, so it’s very important to detect these kinds of things early. After all our eyesight is one of life’s most treasured gifts. We should do everything in our power to look after it.