GGC Family Speaks at Affymetrix Corporate Event

09.23.14
GGC Family Speaks at Affymetrix Corporate Event

With a goal of raising awareness of genetic disorders, Stephen and Jodi Shenal have always been very open in discussing their experiences in raising a child with special needs. They have been vocal champions of the Greenwood Genetic Center (GGC) since their daughter, Ryleigh, was first diagnosed at the Center, and have supported the GGC Foundation through their annual Race the Helix event. Now this couple, along with their children, Tyler, 10, and Ryleigh, 4, find themselves as corporate speakers invited to share their experiences with the 300+ employees at Affymetrix, Inc. in Santa Clara, California on Monday.

In 2010, GGC’s Dr. Steve Skinner was called to the NICU to evaluate Ryleigh shortly after she was born. Her growth and medical concerns had been noted before her birth, and her traditional chromosome analysis was normal. Based upon her clinical findings Dr. Skinner ordered a genetic test called a chromosomal microarray (CMA) which detected Ryleigh’s rare chromosome deletion.
Now the Shenals have been invited to share how the technology impacted their lives at the company where the technology was developed, Affymetrix, Inc. The CMA developed by Affymetrix was able to detect the very small change in Ryleigh’s genome that was not visible using traditional genetic testing methodologies.

The Shenals, along with Dr. Skinner, GGC’s Diagnostic Lab Director, Dr. Mike Friez, and GGC’s Cytogenetics Lab Director, Dr. Alka Chaubey, participated in ‘The Biology for a Better World Lecture’ arranged by Affymetrix’s CEO, Frank Witney. The 2nd annual employee event aims to impress upon employees in a personal way, the tremendous impact that their work has on the lives of patients.

GGC worked closely with Affymetrix in attaining FDA clearance for their CMA product known as CytoScan® Dx Assay and was the first lab to offer the test clinically. “CytoScanDx Assay was a major effort for our organization, a significant investment in time and resources,” shared Kim Caple, VP of Global Clinical Marketing at Affymetrix. “This lecture will help our team tangibly connect to the real world impact of this product. We are very excited to have the Shenals and our GGC colleagues bring the product to life for our employees.”

Jodi was equally grateful for the work done by Affymetrix. “It’s a privilege to be able to meet the people who developed the technology that has helped our family in so many ways,” she shared. “It gave us the answer that we were so desperate for; it told us that Ryleigh could benefit from early intervention, which has been so instrumental in her progress; and it reassured us that her challenges are not the result of anything that we did or didn’t do.”

The testing has also helped the Shenals connect with other families and children with the same diagnosis. “We have met so many strong, wonderful families through social media and other support organizations and have had the opportunity to visit six of those families in Europe this past summer,” said Stephen. “It means so much to have connections with others who understand not only our challenges, but also our great joys.”

Tyler Shenal, age 10, also charmed the Affymetrix audience with stories of his enthusiasm for science and interest in herpetology. Tyler has a diagnosis of Asperger syndrome which he proudly boasts “is cool and just part of who I am.”

Photo Caption: The Shenal Family

One Mother's Story

After a long three-year struggle trying to have children, our son, Charlie, was born on April 18, 2009. He was our miracle...perfect in every way! When Charlie was five days old, our pediatrician called to notify us that one of the numbers from the heel prick test was a bit high. We headed to the hospital that afternoon for more tests. I will never forget the following day. It was cool and crisp - not a cloud in the sky. The next thing I know, our ...

In The News