Against the Odds: Stories from CZI's Rare As One Project

The Story Collider

In this week’s episode, both of our stories are from CZI's Rare As One Project. CZI’s Rare As One Project brings together rare disease patients and advocates in their quest for cures. Both of this week’s stories are from Rare As One grantees who are sharing their stories and experiences navigating diagnosis and organizing their communities to accelerate research, identify treatments, and change the course of their diseases.

Part 1: After ending up in the ER for the third time, Rachel Alvarez struggles to understand what’s going on with her health.

Part 2: As a young adult with muscular dystrophy, Monkol Lek refuses to give up on his ambitions.

Rachel Alvarez was diagnosed at birth with an unspecified neuromuscular condition, finally confirmed in 2009 as congenital muscular dystrophy. After graduating from California Polytechnic University, she spent her early career working in healthcare finance and operations. She joined Cure CMD as a volunteer when it was founded in 2008, and then as its first employee in 2012. Rachel continues to work for and on behalf of families living with congenital muscular dystrophy, to not only support their current needs, but to help ensure treatments in the foreseeable future for this group of ultra-rare conditions.

Monkol Lek is an Assistant Professor at Yale University and runs a research lab that is dedicated to the genetics of muscle diseases. He grew up in Sydney and in his 20s received a diagnosis of muscular dystrophy, which motivated him to re-train and receive a PhD at the University of Sydney. He then migrated to Boston to train in human genetics and genomic technologies before starting his own lab at Yale. During his free time he likes to randomly complain on twitter, play computer games and hang out with his three rescue dogs!

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