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This week, Mandy (Kate is sick!) chats to Louise, Pea mum to 3-year-old Isabelle who lives with Severe Combined Immunodeficiency (SCID) or the ‘bubble baby condition’  - a life-threatening genetic condition in which affected babies are unable to fight bacterial, viral or fungal infections.


Louise shares her story of Isabelle’s diagnosis thanks to the quick and insightful actions of two supportive paediatricians, and her months-long hospital stay in a positive pressure room, all while the COVID-19 pandemic took hold. Isabelle underwent a lifesaving stem cell transplant at 7 months of age and was able to return home. Isabelle’s condition also led to hearing loss, and she’s also been subsequently diagnosed with autism and global developmental delay. 


Louise is proud to have successfully advocated for SCID to be added to Australia’s Newborn Bloodspot Screening Panel and has ensured that SCID is now detected, diagnosed and treated shortly after birth in every state in Australia, before a baby can become critically ill or pass away.  


Louise also sits on the Board of the Immune Deficiencies Foundation of Australia, supports other families who have a child born with SCID and is an advocate and peer mentor to families living with any immune deficiencies. 


Thank you for sharing your story with us Louise! 

Plus:  


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