Madelaine and Ally's Story

Madelaine and Ally's Story

Madelaine had a normal pregnancy and gave birth to a healthy baby named Ally in a small, less than 10,000 person town named Manitoba, Canada. Ally was Madelaine’s second daughter, with her first being her neurotypical eldest daughter, Bethany.

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Kelley and Ryan's Story

Kelley and Ryan's Story

Kelley is the parent of Ryan, a child living with TFE3-Associated Neurodevelopmental Disorder. Ryan was the 21st patient in the world to be diagnosed with this condition. Kelley has shared Ryan's story with us and uploaded Ryan's variant to genetic databases with the hope of bringing awareness to TFE3 and the rare disease diagnostic odyssey.

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Alex and Caroline's Story

Alex and Caroline's Story

Caroline Cheung-Yiu is the parent of a child living with a rare disease. Her son Alex is a RareWear participant who was issued a device in connection with the RareWear program which monitors vital signs. Caroline graciously shared her family’s story with us in the hope of helping others who might benefit from the RareWear program.

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RG Rare Disease Day Acknowledgment: Small steps make a big difference

RG Rare Disease Day Acknowledgment: Small steps make a big difference

LOS ANGELES, CA; April 15, 2019 --

Thank you to all our supporters on **Rare Disease Day 2019**, we are so thankful to have a community that is working with us to push science and medicine forward to meet the needs of rare disease patients.

This year we were lucky to have a new community raise awareness with us on Rare Disease Day. We want to thank all Illumina employees who decided to advocate for rare disease patients on this important day. When we say that every bit makes a difference, that is because it makes all the difference, especially for families with significant unmet need.

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