The Power of Genetic Diagnosis - More Than Just a Label

Balancing Rare Disease Advocacy and Family - Navigating the Complexities and Embracing Imperfections with Nikki Stusick

ONCE UPON A GENE - EPISODE 230
Balancing Rare Disease Advocacy and Family - Navigating the Complexities and Embracing Imperfections with Nikki Stusick

Nikki Stusick is the mom of a child with an initial VUS diagnosis and then a different pathogenic diagnosis. We talk about the complexities of balancing advocacy work, family life, when to choose one over the other and when to take a break.

EPISODE HIGHLIGHTS

Can you tell us about yourself and your diagnostic journey?
I am a mom of three children and my oldest, Theo, was diagnosed a month after his first birthday with a rare condition called TBCK Syndrome. We started a foundation to build a community. Then, four years later, we found out that one of the genetic mutations offered a different diagnosis. With the misdiagnosis, we have been at a crossroads because we hav