This month’s PCA Connect discussion about ‘The Diagnostic Odyssey of Genetic Diseases; Family Perspectives’ was rich, deep and real.

The webinar brought together those with lived experience, leaders in the not-for-profit sector, and clinicians, to explore common emotional and practical considerations for families as they navigate the diagnostic odyssey of genetic testing – and was a fitting follow-on from October’s webinar ‘Think Rare, Think Care, Think Together’.

Speakers:

• Gareth Baynam (MC) – Clinical Geneticist and Medical Director, Rare Care Centre, Perth Children’s Hospital. He is a Founding Board Member of the Undiagnosed Diseases Network International, Program Director and Founder of the Undiagnosed Diseases Program WA at GSWA, Head of the WA Register of Developmental Anomalies, Chair of the Diagnostics Scientific Committee of the International Rare Diseases Research Consortium and Founder of Project Y, Lyfe Languages and Cliniface.
• Stephanie Broley – Senior genetic counsellor in the Genetic Paediatric Service of WA, working clinically both in paediatrics and the Rare Care Centre. A certified genetic counsellor, Stephanie has over 20 years of experience in multiple specialty areas working at The Children’s Hospital at Westmead and Genetic Services WA. As founding co-chair of the Genetic Counselling Working Group of the Undiagnosed Diseases Network International, Stephanie has pursued a special interest in working with families living with rare and undiagnosed conditions through broad scale collaboration and project development.
• Heather Renton – Chief Executive Officer and Founder of Syndromes Without a Name (SWAN) Australia. SWAN provides information, support, connection and advocacy to families caring for a child with an undiagnosed or rare genetic condition. Heather is the mother of two children, one of whom has a rare genetic condition called FOXP1 Syndrome. Heather is a consumer representative on a number of different advisory groups and committees and is a passionate health and disability advocate.
• Anna Pak Poy – Founder and Chair of the Rare Find Foundation. In December 2017, at just seven months old, her son Sebby was diagnosed with Tay-Sachs Disease. Sebby sadly passed away in March 2019, age 22-months. Anna understands first-hand the challenges Tay-Sachs families in Australia face and so inspired by the spirit and courage of her son, she established Rare Find Foundation in August 2019, together with her husband Marc. Anna lives with her husband and three-year-old daughter, Layla, in Adelaide and is also the Managing Director of Careerlink People Solutions.

This webinar is produced in collaboration with the Paediatric Palliative Care National Action Plan Project.

WATCH THE RECORDING HERE

Resource Sheet – Genetic Testing and Rare Diseases