Invitae and NSGC presented the annual Code Talker Award essay contest at the 2018 NSGC Annual Conference to recognize the impact genetic counselors have on the health and lives of patients. Patients and their families paid tribute to a genetic counselor by nominating him or her for an award, and the following patient essays were finalists.
The 2019 contest is open and we invite any current or former patients, caregivers or peers to make nominations. Visit the website to learn more about contest guidelines.
Code Talker Awards: Hannah Scanga Amazing Grace
UPMC Children’s Hospital of Pittsburgh
I am reminded of a line in the famous song “Amazing Grace.” I once was lost, but now am found, was blind, but now I see. My son, James, was born with a rare genetic disorder causing clouding to both of his eyes. By all accounts, he was blind. Today, James not only has vision, but he also, at 4 years old, attends school full time, recognizes pictures in books, and navigates environments comfortably. I directly attribute his success to the selfless service and expertise of Hannah Scanga.
Hannah is an elite counselor in an extremely small field of ocular geneticists. After meeting her, I quickly realized the crucial role she would play in our lives, daily going above and beyond to impact my son’s future. Hannah was relentless in helping us with genetic testing. She researched and contacted many agencies on our behalf, telling each one our story and how we were incurring significant medical expenses. We were also experiencing one failed attempt after another to have testing covered through insurance; we almost accepted the possibility that we would not know his condition due to the cost of testing.
Code Talker Awards: Margaret Au Our Superhero
MBE, MS, CGC
Cedars-Sinai Medical Center
What is a diagnosis worth? For my family, learning that our daughter, Amy, has the ultra-rare disorder xeroderma pigmentosum/ trichothiodystrophy (XP/TTD) complex after two decades of searching, the value is incalculable. For an insurance company, there is a definite amount — and in 2015 that amount was $9,500.
What does this have to do with genetic counseling? It turns out, quite a lot. This is our story of how an amazing genetic counselor, Margaret Au, not only guided us through hearing some of the worst news our family ever received but also how she helped us handle the unforeseen repercussions of one epic financial battle.
Code Talker Awards: Lisa Johnson A Rare Friend
Miami Valley Hospital
Her voice was sweet, but the words hurt. There was nothing she could do to take the pain away or ease the sting. After four consecutive miscarriages, this pregnancy entered the second trimester, so we felt hopeful — but the celebration was short-lived. Our doctor found anomalies during the ultrasound. Visions of pink or blue became gray. We quickly learned what an enlarged nuchal fold meant — darker gray — and then chronic villus sampling (CVS) — darker gray.
On the day that I was fourteen weeks pregnant, Sarah, our genetic counselor, called and gently delivered the CVS results. “It’s a boy … ,” she said, “and he has Down syndrome.”