Read this story. It could save a life.
A Tragic Loss in Melbourne
On 27 August 2023, 23-year-old Melbourne resident Alexandra Thoms died in her sleep from undetected arrhythmogenic cardiomyopathy—an inherited condition that causes the heart's electrical signals to misfire. She was young, healthy, active, and had no prior symptoms.
"This is a major, preventable public health emergency," said her father, Gordon Thoms.
Following her death, Gordon founded Alexandra's Mission to raise awareness and advocate for preventive measures. A subsequent test revealed that Alexandra’s brother, Charlie, carried the same cardiomyopathy. He has since received an implanted defibrillator.
The Hidden Crisis: Sudden Cardiac Arrest in the Young
Sudden cardiac arrest (SCA) kills millions globally each year. In Australia, one person under the age of 35 experiences SCA every day, and most do not survive.
- Causes include inherited arrhythmias and cardiomyopathies; in about 40% of autopsies, no cause is found.
- SCA often occurs during sleep (one third of cases), during exercise, or without any warning.
- Survival rates are around 10%, but can improve to 20% when a defibrillator is available.
The Cost of Delayed Answers
The Thoms family faced a lengthy process to identify the genetic cause and arrange testing for relatives. Experts say this delay is too common.
"Genetic testing after unexpected young deaths can answer families' questions and prevent further tragedies," said Richard Bagnall, head of cardiovascular research at the Centenary Institute.
A tragic example: Sonny and Airlie Green both died from PPA2 genetic disorder after a mild illness. Testing only occurred after the second child's cardiac arrest.
Policy Gaps: What Needs to Change
Despite the known risks, significant gaps remain in public health policy:
- Genetic testing after unexplained young deaths is not mandated, despite its potential to identify at-risk family members.
- South Australia is the only state that mandates AEDs in public buildings.
- Charities like Heartbeat of Football push for defibrillators in community sports grounds.
- Experts advocate for CPR training in schools and as a requirement for obtaining a driver's license.
Gordon Thoms calls for greater public health leadership and for SCA to be recognized as a preventable emergency.