06 May Interview: Family Finds Answers To Daughters’ Rare Genetic Disease
Posted at 07:32h in Press Room 2 Comments
Exome Sequencing Testing Unlocks Answers and Offers Hope For Rare Disease Patients Around the World
|WHAT:||Approximately one year ago, in conjunction with World Rare Disease Day, Cristy and Rick Spooner went live with their story about their two daughters Cali, 14, and Ryann, 3 who suffer from the same RARE genetic disease, which severely limits their ability to walk, talk and take care of themselves. As they race against time, the Spooners shared their story in hopes of finding answers — answers they have never been able to find even after dozens of tests, MRI’s, scans, brain biopsy’s, X-Rays and visits to world-class medical research centers.
Fast-forward, one year, and the couple have the answers they were told would never be found. They now have the key that has unlocked the mystery surrounding the genetic defect plaguing two of their three daughters. This new-found finding will lead to better lives for both girls and could possibly help others around the world who may be suffering from a similar RARE disease.
|HOW:||Last year, in collaboration with the relentless efforts of Nicole Boice, founder and president of Global Genes/RARE Project (www.globalgenes.org), one of the leading rare and genetic disease patient advocacy organizations in the world, as well as Dr. Virginia Kimonis of UC Irvine, the Spooners were informed of the availability of a new technological advancement in genetic testing – called Exome sequencing. The Spooners were in luck – the testing was available right in their own backyard through Ambry Genetics (www.ambrygen.com), the first CLIA-certified laboratory to offer whole Exome sequencing for clinical diagnostics.|
|WHEN:||Now, as a result of the collaboration, the Spooners finally have insights explaining the “culprit” that has caused their daughters to be cognitively delayed and unable to speak and walk normally. The findings are unparalleled to any information ever received by this family and give them a roadmap for treating Cali and Ryann.|
|SIGNIFICANCE:||Exome sequencing and new innovations in technology are bringing hope to millions of patients around the globe. Diagnosis and treatment for many has been difficult because there is so much that is still unknown. The new Exome testing results shed light on a host of issues from determining the best course of treatment, identifying medical professionals and specialists, eliminating unnecessary testing which can potentially reduce costs associated with healthcare and insurance, carrier testing, prenatal diagnosis, family reproductive and so much more.
“New technologies are allowing us to not only identify disease but also allow us to start mapping existing medications with known diseases,” Boice said. “The hope is that we can start seeing new treatments and potentially cures being developed more quickly.”
|ABOUT EXOME SEQUENCING:||Every cell of the human body harbors a complete copy of an individual’s DNA. Only about one percent of human DNA is made up of genes. Genes are responsible for making proteins which govern biological traits as well as basic biochemical processes required for living. Approximately 85 percent of DNA alterations which lead to disease are found within our genes. The term “exome” refers to this small portion of our DNA which contains genes. Exome sequencing involves the sequencing of the functionally relevant portion of all 20,000 genes in the human body. It is the most cost-effective and comprehensive method to rapidly detect the underlying cause in patients afflicted with genetic disease. Sadly, roughly half of patients in genetics clinics do not receive a diagnosis to explain their symptoms.|
|WHO:||The Spooner family is not alone. Currently, there are more than 7,000 identified rare diseases and 350 million people worldwide who are affected by a RARE disease. Yet, because of the “rarity” of these diseases annually tens of thousands of individuals go undiagnosed. During the last 30 years there have been only approximately 400 treatments developed.|
|INTERVIEWS:||Interviews are available with:
|CONTACT:||To coordinate an interview contact Kim Sherman at firstname.lastname@example.org or Sabrina Suarez Sabrina@echomediapr.com or via phone at 714 573-0899|
Nancy BosshardPosted at 20:02h, 27 December
Such valuable work you are doing. Heartwarming. Keep it up!
Cristy SpoonerPosted at 18:57h, 09 May
thank you so much!!