Ep 44 Will not have been meaningless | PKU & Cystic Fibrosis Pathology

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In the 1920’s, Pearl Buck searched for an answer to her 3 year old daughters intellectually disability.

Unfortunately, no-one could help her because her daughter's condition was not yet known.

From the mid 1930s to the 1960s, a remarkable sequence of events led to the discovery of Phenylketonuria (PKU), accurate testing and widespread screening that revolutionised early detection of childhood disease(s)

It was also around the same time (mid 1930s) that some young children were believed to be dying of Coeliac disease. One child had an unusual findings in their pancreas.

Further investigation revealed other children with the same finding.

This was not Coeliac disease, it was Cystic Fibrosis (of the pancreas). As more was learnt about this disease, children began to live longer with improved quality of life.

Over the span of 90 years, the average life expectance for a person with Cystic Fibrosis went from 6 months to close to 50 years.

Our special guest for this episode is Professor Graeme Suthers.

NB. The voice of Pearl Buck was generously recorded by Christine Helen Coombe. We appreciate all submissions via our social media request.

SPECIAL GUEST

Professor Graeme Suthers
BSc (Med), MBBS, PhD, FRACP, FRCPA, GAICD

Prof Suthers is Sonic Healthcare’ Director of Genetics. He is one of Australia’s most respected experts in the field of genetics, and is nationally and internationally recognised for his expertise in genetic disorders, testing and clinical service provision.

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