About Me
I am a genetic counselor with mitochondrial DNA depletion syndrome.
Our GUK1 Journey
Diagnosed with mitochondrial DNA depletion syndrome at age 16, now another 16 years later our candidate gene (GUK1) is published! We’re unbelievably fortunate to have an amazing team that has a treatment to try via an expanded access program.
99% of mitochondrial disease patients don’t have a treatment that specifically targets their gene so the hope this brings our family is truly priceless. Come along with me for my guinea pig era!
Blog Posts and Articles
We have to write about what matters to us, even if it is hard, even if we haven’t got life all figured out yet ourselves. By sharing my experiences and thoughts I hope to make others feel seen, validated, and supported in sharing their truths.
Favorites
Thank you for visiting my site and I hope to share with you some of my favorite shops/books to support.
***section not completed *** Podcasts and Videos
I’ve been honored to be part of some really important discussions hosted by my communities.