From navigating a system that was not built for people with rare diseases, to working to change that system from both sides

https://rarerevolutionmagazine.com/from-navigating-a-system-that-was-not-built-for-people-with-rare-diseases-to-working-to-change-that-system-from-both-sides/ From overcoming daily physical and societal hurdles in the classroom to facing misconceptions within the medical community, Sarah Mullahy shares her personal journey of advocacy and her path toward becoming a doctor dedicated to patient-centered care. Written by Sarah Mullahy In 2003, after a short stay in the neonatal intensive care unit, I was discharged home, only to be readmitted months later with failure to thrive. An atrial septal defect was found during that admission. When I was still very young my family moved to South Africa for a year. It was a specialist there who looked at the wider picture and insisted we see a geneticist once we returned to Ireland. I was diagnosed clinically with Noonan syndrome in 2005, at the age of two. In 2008, when genetic testing became more available, an alteration in the PTPN11 gene confirmed what the clinicians had already recognised.