"The Life We Live" Debuts Worldwide June 20
Documentary Features the Spooner Family and Their Amazing Journey of Hope, Perseverance and Scientific Discovery
(firmenpresse) - ALISO VIEJO, CA -- (Marketwired) -- 06/20/13 -- "The Life We Live," a heart-felt documentary chronicling the Spooner family's 14-year struggle to find answers for a rare genetic disorder plaguing two of their three daughters, debuts today, June 20th, at . "The Life We Live" shares Cristy and Rick Spooner's struggle to find an answer to the illness that affects their daughters, Cali, 14, and Ryann, 4. Both daughters suffer from the same rare genetic disorder, which severely limits their ability to walk, talk and care for themselves. A new advancement in science and medicine unlocks the mystery giving the Spooners a formal diagnosis. Now, they are sharing their story and shedding light on how exome sequencing can help others discover answers to fight against rare genetic diseases.
"We spent 14 years trying to find a diagnosis to the rare genetic disease impacting the lives of two of our daughters," Cristy Spooner said. "We never thought it would be possible, but because of a new testing we have a diagnosis. This diagnosis is so important because we are finally able to identify treatments that will help them and improve their quality of life. We have already seen remarkable changes in their ability to walk, balance and more. Our family decided to share our very personal story to give families around the world knowledge so that they can find their own answers as they battle against rare disease."
"The Life We Live" production is the result of the collaboration between three world-class organizations united by the commonality of researching and fighting rare genetic and orphan diseases. With different backgrounds in medical technology, research and rare and genetic disease patient advocacy, these organizations all had the same goal -- to help the Spooners find answers they have been waiting for. The relentless efforts of , a global leader in genetic services with a focus on clinical diagnostics and genomics, Dr. Virginia Kimonis of the , and Nicole Boice, founder and president of , finally helped unlock a diagnosis through the cutting-edge testing of exome sequencing.
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 in finding answers to fight against a rare genetic disorder. To learn more about the Spooners' struggle, exome sequencing or watch the documentary visit .
Justine Mrsich
714-573-0899 ext. 238
Themen in dieser Pressemitteilung:
Unternehmensinformation / Kurzprofil:
Bereitgestellt von Benutzer: Marketwired
Datum: 20.06.2013 - 12:35 Uhr
Sprache: Deutsch
News-ID 271710
Anzahl Zeichen: 0
contact information:
Town:
ALISO VIEJO, CA
Kategorie:
Personal Care & Fitness
Diese Pressemitteilung wurde bisher 184 mal aufgerufen.
Die Pressemitteilung mit dem Titel:
""The Life We Live" Debuts Worldwide June 20"
steht unter der journalistisch-redaktionellen Verantwortung von
Ambry Genetics (Nachricht senden)
Beachten Sie bitte die weiteren Informationen zum Haftungsauschluß (gemäß TMG - TeleMedianGesetz) und dem Datenschutz (gemäß der DSGVO).