AUGUSTA, Ga (WJBF)– Advances in genetic testing are now identifying causes of thousands of rare diseases that used to be a mystery.
It’s estimated that 10,000 diseases are caused by a variant in a single gene. Until recently, people living with a genetic condition were often left searching for answers.
Advancements in testing now allow scientists to pinpoint genetic variants and the diseases they cause. Meet one young woman who was born with breathing, feeding and mobility challenges… and many uncertainties. (Story airs here) Summer’s diagnosis allowed her family to connect with leading experts who are developing new treatments.
And this brings us to former television journalist, Jillian Benfield, who now advocates for the full inclusion of people with disabilities. She and her husband, Andy, have three children… one of whom changed the trajectory of their lives forever.
Her family’s journey through a Down Syndrome diagnosis is recounted in her new book, The Gift of the Unexpected.
And if Jillian looks familiar to you, it’s because she worked here at WJBF-TV a decade ago!
Her book is about more than the diagnosis of a baby who would be born with special needs. It’s about faith, grace, and purpose: “Life would never the the same as before we stepped over the threshold on Cherry Hills Loop. We would never be the same once we left.”
Jillian discusses her book, and her personal journey, in the video above.
You can find out more about Jillian on her website, jillianbenfield.com
The Gift of the Unexpected is available online at Amazon, Target, Barnes and Noble… and you can save 30% purchasing through Baker Publishing Group.
