Richard

In 2009, Clare’s brother, Richard, passed away from a sudden cardiac event at just 33 years of age. A newlywed, Richard was an intelligent and reserved man with a deep love for music, playing both the trumpet and piano. He worked as an engineer and according to Clare, “His life was really just starting.”

Just days before his passing, Richard had begun feeling unwell and dizzy. He had gone to the hospital emergency department, where initial tests didn’t reveal anything concerning. He was advised to follow up with a cardiologist the next day, who also found nothing worrying.

The following day, Richard took leave from work to rest. When his wife returned home, she found him passed away.

For years, Richard’s family had no clear answers. However, more than a decade later, genetic research at the Centenary Institute uncovered a possible explanation.

Testing revealed that Richard carried a genetic variant associated with a known heart condition. Clare and other family members were subsequently tested, confirming that Clare, her mother, and her uncle also carried the same genetic variant.  Clare’s mother and uncle are now on medication to help manage their heart condition and are living active and healthy lives.

For Clare, a doctor herself and now a mother of two young children, this knowledge is life-changing. Her children will soon undergo genetic testing to determine if they also carry the variant.

“Knowledge is critical, not just for me, but for my children. If they don’t have the variant, we’ll have peace of mind. If they do, we can take action to help protect them.”

Clare says that she’s glad that there’s a potential genetic explanation for the heart issues in her family but is also sad about her brother.

“If it had been known that my brother carried this variant, maybe he would have been hospitalised for further observation or treatment. Maybe the cardiologist’s approach would have differed. Maybe he’d still be alive today but unfortunately, we will never know.”

Clare is passionate about raising awareness of sudden cardiac death, particularly in children and young adults. She believes in the power of medical research to uncover life-saving information.

“Centenary’s research into the genetic causes of sudden cardiac death is vital in preventing these tragedies,” she says.

“The more we understand, the more we can do to protect lives. My family is living proof of that,” Clare adds.