After three year old Chloe’s GP noticed a heart murmur, she was referred to a paediatric cardiologist for an echogram. Her parents, Dean and Michelle, sitting in the waiting room, had no idea their world was about to be shattered.

The cardiologist was concerned enough to immediately admit Chloe to hospital. Doctors performed innumerable tests and procedures before calling in a team of geneticists for further investigation.

The medical specialists suspected mitochondrial disease (mito), but the only way to be sure was for Chloe to undergo invasive liver, skin and muscle biopsies; surgical procedures that required an anaesthetic. A general anaesthetic in a healthy person involves only minor risk, but with Chloe’s heart condition and mito the risks were considerably higher.

Chloe, Michelle & Dean

Michelle said, “Putting our little girl under a general anaesthetic and consenting to a painful and invasive biopsy while knowing the risks was terrifying, but it was the only way to get a diagnosis. The stress of waiting for the results was unbearable. To have an alternative to that process would save so much heartache in an already desperate situation.”

As Chloe recovered from the biopsies and weeks turned into months, Dean and Michelle waited anxiously for the results. Eventually the call came with the heart breaking news that Chloe had mito. Michelle explained:

“Helpless is an understatement. There is nothing we can do to fix this. No cure, no operation, no medicines… nothing.

“Our life now revolves around Chloe’s appointments with her GP, paediatrician, cardiologist, neurologist, geneticist, dietician and many other specialists.

“Chloe lives her life waiting for things to start going wrong or becoming worse than what they already are.”

Michelle and Dean

May 2016