Our family Story

In 2020, COVID-19 changed our wedding plans, so we decided to start our family. We fell pregnant with our son and welcomed Sonny in March 2021.

Sonny, true to his name, was pure sunshine—a happy, smiling, caring little boy. We were best friends, exploring the world together through his eyes. He made my transition to motherhood easy.

Sonny was developing normally with no health concerns. However, at 9 months old, after experiencing mild viral gastroenteritis, he went into cardiac arrest and, despite frantic efforts from doctors and nurses, could not be saved.

We were left with no answers, and even as I write this, it still feels unbelievable. We were told the coronial investigation could take up to three years, and his death remains undetermined. When we asked our GP about genetic testing, we were dismissed with comments about the cost and lack of family history, which we now know is outdated information.

We then fell pregnant with our daughter, Airlie, and welcomed her in November 2022. Airlie was sassy, cheeky, and a happy little girl—our heart healer who kept us on our toes, which we didn’t mind one bit.

At 5 months old, Airlie had mild gastroenteritis and ultimately suffered a cardiac arrest. Thankfully, due to the quick actions of the ED team, she was saved. Because there was now a family history, the hospital conducted genetic testing, revealing a rare PPA2 genetic mitochondrial condition. Airlie was the only known living case in Australia.

This discovery launched us into the world of mitochondrial and rare diseases, with little known about the condition since most cases die in infancy and are diagnosed post-mortem.

We dedicated our lives to connecting with others, starting a private Facebook group that now has 11 living members worldwide.

Unfortunately, in May 2024, Airlie lost her battle with PPA2 following viral gastroenteritis and cardiac arrest. She was 18 months old.

We are now dedicating ourselves to advocating for rare diseases and genetic testing, inspiring hope, and creating awareness so other families do not face the same path.

To continue following our journey, follow our page: Instagram

Donations to this page will help amplify the voice of the Mito community to influence policy while driving critical research advancements into the prevention, diagnosis, treatment, and cures of mitochondrial disorders