SOURCE: Ambry Genetics

June 11, 2013 09:12 ET

Documentary Showcasing One Family's Struggle and Triumph With a Rare Genetic Disorder

World-Wide Premiere Features Collaboration of Science and Medicine That Unlocked Diagnosis

ALISO VIEJO, CA--(Marketwired - Jun 11, 2013) - The world-wide premiere of "The Life We Live" is scheduled to debut on Thursday, June 20 on www.TheLifeWeLiveDoc.com. A heart-felt documentary chronicling the Spooner family's struggle, "The Life We Live" shares their battle to fight the rare disorder plaguing their two daughters. As a result of exome sequencing, the Spooners have discovered answers they have long been seeking. With only days until the world-wide premiere, a teaser trailer is currently available here: http://www.thelifewelivedoc.com/teaser.html.

"The Life We Live" shares Cristy and Rick Spooner's 14-year struggle and race against time to find an answer to the illness that affects two of their three daughters. Cali, 14, and Ryann, 4, suffer from the same rare genetic disorder, which severely limits their ability to walk, talk and care for themselves. After years of testing and waiting, the Spooners finally received answers to their 14-year nightmare. Now, they are sharing their story in hopes of shedding light on how exome sequencing has given their daughters hope for a better life.

"We decided to share our story in such a personal way in hopes that we can help other families around the world," said Cristy Spooner. "There was a time when accepting that we may never know what afflicted our daughters was reality, then, coming across cutting-edge testing such as exome sequencing changed our lives. We hope our story can help another family fight their brave battle."

The documentary is a collaboration between three different organizations united by the commonality of researching and fighting rare orphan diseases. With different backgrounds in medical technology, world-renowned research and as the leading rare and genetic disease patient advocacy organization in the world, these organizations all have the same goal -- to help the Spooners find answers they have been waiting for. The relentless efforts of Ambry Genetics, a global leader in genetic services with a focus on clinical diagnostics and genomics, Dr. Virginia Kimonis of the UC Irvine Division of Genetics and Metabolism, and Nicole Boice, founder and president of Global Genes/RARE Project, finally helped unlock a diagnosis.

ABOUT THE DOCUMENTARY:
The Spooner family is not alone. Currently, there are more than 7,000 identified rare diseases, which because of their "rarity," results in tens of thousands of undiagnosed individuals annually. Exome sequencing can help the more than 350 million people worldwide affected by a rare disease. "The Life We Live" is a documentary that follows one family's long-fought battle against a rare genetic disorder. For all parties involved, the hope is for the documentary to shed light onto the issue of rare disorders and to help others find answers. To learn more about the Spooners' struggle, exome sequencing or the documentary, please visit www.TheLifeWeLiveDoc.com.

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