If it wasn’t for an attentive school teacher, Tyler may still be waiting for a diagnosis.

Six years ago, Tyler was displaying behavioural issues in class, a characteristic very much unlike him.

“Tyler was perfectly healthy up until his Grade 2 teacher started noticing something wasn’t right,” dad Leigh said. She highlighted some issues he was having around not paying attention and following instructions. Tyler is a well-mannered child, so not listening just didn’t fit with his personality.”

To try and pinpoint what was behind the shift, Tyler underwent an assessment, which included a hearing exam.

“Tyler failed the hearing tests and was later diagnosed with retinitis pigmentosa, which causes severe vision loss,” Leigh said. Up until that point, he had learnt to hide it very well through self-taught lip reading.”

Image: Tyler was diagnosed with mitochondrial disease via genomic sequencing

After years of further testing, Tyler was eventually diagnosed with mitochondrial disease via genomic sequencing. The genetic disease occurs when the body's cells fail to produce enough energy to function. Affecting several organ systems, symptoms can include poor growth, developmental delays and muscle weakness.

Tyler, 15, now wears hearing aids and specialised glasses having lost 50 per cent of his hearing and only has a visual field of 10 degrees. He also experiences low energy levels and muscle weakness, which can cause him to miss school.

Image: Tyler with his mum Laura and dad Leigh who have welcomed new genomic sequencing research

Leigh said new Murdoch Children’s Research Institute (MCRI) led research that has found more than half of people with mitochondrial disease can be diagnosed via genomic sequencing, would come as a welcome relief to families.

“It was really frustrating not having a diagnosis for so long,” he said. We were relieved once we knew what we were dealing with so we could zone in on that condition and learn as much as we could. Having a diagnosis means he can get the right medical care and we were able to access metabolic and cardiac clinics and a dietician and paediatrician who treat other children with mitochondrial disease. Despite his health challenges, Tyler remains cheeky, he’s always making people laugh and is super caring and thoughtful.”