It was a ticking time bomb…Erika could have woken one day and been completely blind.”
Those are words that no parent wants to hear about their child. For Sanela, this was the reality for her seven-year-old daughter, Erika. But Erika had no symptoms. A ticking time bomb is exactly what she faced when she was referred to us. ‘The pressure in Erika’s eyes was so high, that she could have woken up one day with a headache, and by the end of the day, been completely blind’, Sanela said.
Dr Jonathan Ruddle, our head of Ocular Genetic Clinic, was on hand to assess Erika’s condition, and quickly realised if she wasn’t treated, she would have developed increasingly resistant eye pressure. This means Erika would have severely damaged eyesight and had to face even more complicated surgery to keep her sight.
Erika needed three separate surgeries from the tender age of seven. We know going through surgery, especially for young children like Erika, can be some of the most stressful period for families. That’s why we pride ourselves on having the best specialists, nurses, and volunteers to help them through this journey.
‘Being in the hands of Dr Ruddle, I knew he was going to make it work. He was so measured and never rushed. We knew we were in good hands’, Sanela said.
The threat of blindness was not a remote one for Sanela and Erika. ‘My grandmother went blind in her early 20s, and now we know she had the same condition that Erika did. Had we not found out about Erika, had she not had that surgery, she could have gone blind overnight’.
Dr Ruddle worked with specialists in Adelaide, and together, we were able to find the gene that caused Erika’s condition. What’s more, her whole family was tested. As Sanela told me, this will change the lives of future generations of her family. ‘My brother had just had a newborn baby, and straight away we found he carries the gene, before he can even wear glasses.’
Now, Erika, her cousins and siblings can all make an informed choice about their future, knowing how and why they are part of only a few families around the world who are known to have this gene.
For Erika, she no longer needs thick glasses to see, and no longer needs to use eye drops at all. And for Sanela, Erika, and their entire family, the future is looking bright.