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Dr John Pasternak

Nominated by Pfizer Rare Disease

Dr John Pasternak is a semi-retired family doctor working as a surgical assistant in Alberta, Canada. Despite his medical background, he only realised he had cardiac amyloidosis after congestive heart failure sent him to the emergency room. “As a family doctor I had never heard of Transthyretin Amyloid Cardiomyopathy and I would not have recognised the symptoms. Now, I am pleased to be working to change that.”

Dr John Pasternak is a semi-retired family doctor working as a surgical assistant in Alberta, Canada. Despite his medical background, he only realised he had cardiac amyloidosis after congestive heart failure sent him to the emergency room.

“It’s so hard for family doctors to put an amyloidosis diagnosis together. I was lucky. My family doctor listened to my heart, said I had a murmur and sent me for an ECHO. Soon afterwards, I experienced congestive heart failure. I couldn’t get my breath and then in the ER they said I had ascites which is a symptom of liver failure. But that wasn’t what I had. I had an ECHO and a few other tests, then saw a cardiologist who suspected cardiac amyloidosis and sent me for a scan.

“If I hadn’t put myself into heart failure, I might have had subtle symptoms of ATTR-CM for a long time. You can often only piece them together in retrospect – I had carpal tunnel syndrome a few years ago, numbness in my feet and breathlessness. I was fortunate to be diagnosed at 62.

“I am now involved in an initiative working in Ontario and hopefully soon in Alberta to produce awareness resources that will enable family doctors to pick up ATTR-CM earlier. We have to move from accidental diagnosis to informed diagnosis and awareness is the key. We are producing posters and handouts, attending continuing professional development events and using the real-life experiences of informed patients, like me.

“As a family doctor, I had never heard of Transthyretin Cardiac Amyloidosis and I would not have recognised the symptoms. Now, I am pleased to be working to change that.”