Imagine being diagnosed with an incurable rare disease before ever being born. This is the reality that Evie faced when she was diagnosed with hypophosphatasia, a condition impacting bone growth, breathing, and mobility, and often gives patients just 18 months to live.    Luckily, her story doesn’t end there. At three months old, she enrolled in a clinical trial for a first-of-its-kind medication that her mom Lindsey claims “probably saved her life”. Today, Evie is 13 years old and continues to defy the odds, giving hope to other young children suffering from a rare disease that they too can find the strength to overcome anything life throws at them.   Join Evie and Lindsey for this emotional look at their journey, how the power of collaboration has helped them along the way, and Evie’s goals for the future.Show Notes 

Every Patient: Evie 

Evie's Story 

Rare Disease Impact 

Charles River Partners with Soft Bones: The US Hypophosphatasia Foundation 

Probing the Genes of Rare Disease 

No Time To Waste: Collaborative Efforts in Rare Disease Drug Discovery 

Charles River Discovery Services