A Rare Collection – This Is Us

Once Upon A Gene

A Rare Collection – This Is Us

February 17, 2022

A Rare Collection – This Is Us


A Rare Collection – This is Us

There’s power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. 


Because of You

Heather shares all the ways that she and her family are reminded of the bigger, more deeper meanings of life through, all thanks to her daughter Kate. Their faith has grown as they’ve learned to trust God more deeply and to let others help. Heather has learned to let go of her lifelong pursuit of perfection and the need to achieve. She’s a better mother because she can let go of unrealistic expectations of herself. She’s learned to be kinder to herself and how to define success differently. Kate’s family is more grateful, more patient, more loving and more accepting of others. They have become part of a community who enriches their lives, supports them, and shows them how to advocate.  

Reality Check

One moment you’re cruising around town with your seasonal cold brew from Starbucks, and the next, you’re crying in the frozen food section of the grocery store. Katie shares that she feels this way everyday as a special needs parent to Mary Kate. After witnessing another mother shopping with her children, Katie’s reality hit hard. Mary Kate may never be able to grocery shop, walk independently through a store, be able to grab stuff and place it in the cart, or be independent enough to have the experience of shopping for her own food. With support from fellow moms, Katie realized that Mary Kate is going to do what she wants, when she wants. She will continue to hit milestones, and Katie will be there to help every step of the way. 

All of Us

Brittany shares a story about her family and friends rallying around in support when her son Luca was hospitalized. Through a subsequent diagnosis, Brittany and her family have met therapists, specialists and doctors who serve as an amazing team and their community continues to grow. Their “us” is more than their family, more than their close friends— it includes the medical staff, therapy team and the other rare parents on the journey with them. 

Our Village

Sophia’s village extends beyond her husband and five children. The whole family, the grandparents and the family’s church community has rallied around Sophia’s son Davis who has CTNNB1. Their family and those close to them are a village dedicated to Davis’ success and to finding a cure. They share tears, they share laughs and they’re all on this journey together.



Apple Podcasts







Built Ford Tough Facebook Group

You may also like

Top Health Podcasts. Delivered to Your Inbox and Eardrums.

Join Our Newsletter

Proudly supported by:

How is Parkinson’s Disease Diagnosed? And How Is a Care Team Created? Parkinson’s disease can’t be diagnosed through a simple blood test or scan. After a referral from a primary care doctor, it often takes visits to a neurologist or movement disorder specialist before receiving a clinical diagnosis.