Undiagnosed? Misdiagnosed? – Patient Advocacy Summit 2022 Session

September 22, 2022

Undiagnosed? Misdiagnosed? Issues Related to Obtaining a Genetic Diagnosis was a session at the Patient Advocacy Summit in San Diego, California September 12-14, 2022.

Billie Short, Shruti Mitkus and Gina Szajnuk joined moderator Maria Della Rocca to discuss how and when do you seek a genetic test, what to do if the result is inconclusive, when to retest, and can a genetic counselor advocate for you?

You don’t have to compare and go through that comparative suffering or any of that. It’s to be supportive and realize everyone’s journey is unique and everybody has a story. – Billie Short

Moderator: Maria Della Rocca, Senior Director, Patient Services, Global Genes

* Shruti Mitkus, PhD, Director, Genetic Education and Navigation, Global Genes
* Billie Short, Mom to Emily who is undiagnosed, blogger
* Gina Szajnuk, Co-Founder and Executive Director, Rare and Undiagnosed Network

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