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 have built and grew a community for the initial diagnosis, but our advocacy efforts need to shift. We have been working to put the right people in place to carry the foundation forward and I'm still figuring out at what level I want to stay engaged.

How do you navigate and find balance between spending time with family and also your advocacy efforts?

When Theo was diagnosed, I jumped into advocacy to heal and cope and that's how I've learned to channel my emotions into something tangible and taking action helped me. In the last two years, I've felt like I am missing out on time with my kids and I've had to take a step back from advocacy a bit to just be a mom. I have no regrets for outsourcing care to do advocacy work and I'm grateful to be a part of the community, but I want to be clear on what makes sense for this chapter of our lives and what my goals are. I'm figuring it all out as I move through it.

Have you felt societal pressures about how to balance family and advocacy and how do you validate your advocacy commitments?

I feel lucky that everyone around us is supportive and has shown up for us in many ways. If anything, I've been my harshest critic. I push when I can and I don't beat myself up when I have low energy or high emotion days.

What advice do you have for parents trying to balance family and advocacy?

Listen to the touchstones you come back to, your inner voice, because that's your truth. Have self-compassion and don't beat yourself up as you find balance and determine what your family needs are.

LINKS AND RESOURCES MENTIONED

Librarey

https://www.librarey.com/

The TBCK Foundation

https://www.tbckfoundation.org/

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