The annual Code Talker award was presented during an engaging ceremony at the National Society of Genetic Counselors’ annual conference. Every year, patients submit essays nominating their genetic counselors for the award. From these moving stories of the impact genetic counselors have, a few stand out individuals are chosen. The 2019 ceremony was sponsored by Invitae, and featured a guest speaker, the finalist, and the patients who nominated them, and a book for each attendee of the essays behind each nomination. Amy Sturm, MS, CGC, LGC, National Society of Genetic Counselors (NSGC) 2019 President, Professor and Director of Cardiovascular Genomic Counseling, Geisinger opened the event.
“The differences I’ve made in the lives of individuals …navigating genetic risks and conditions … are what drives me today. Despite hurdles, I know genetic counselors will continue to put patients first, above all else.” – Amy Sturm, MS, CGC, LGC, 2019 NSGC President
Dr. Nussbaum, MD, Chief Medical Officer, Invitae, welcomed the audience, and expressed his admiration for genetic counselors and all that they do.
“Every genetic counselor I know strives to combine competence and compassion. I am confident that, as the field of genetics continues to advance and expand, the expertise and empathy of genetic counselors will allow for new information to be communicated carefully and correctly with guidance and support.”- Dr. Nussbaum
A guest speaker, Amylynne Volker, presented her family’s story. Her son, born in 2004, is known as the first person whose life was saved by DNA sequencing. Her presentation brought to light the realities of the challenges of rare disease that the family has continued to face.
Nic was born seemingly healthy and on track developmentally. At around age two, everything changed. Nic developed abscesses, fevers, and diarrhea. He was started on antibiotics but continued to worsen, with open wounds that wouldn’t heal. Amylynne brought Nic in for extensive testing but never returned with a definitive answer. After countless hospital stays, Nic had undergone apheresis, chemo, and many off label treatments with debilitating side effects, but his disease still didn’t have a name. In 2009 Nic’s insurance had reached its lifetime cap at 2 million dollars.
“We had nowhere to go and nothing to lose. He had gone three years without being diagnosed.”- Amylynne
In 2010 Nic underwent whole exome DNA sequencing, revealing that he had XIAP deficiency. The family finally had an answer- but Amylynne was devastated to learn she had “given” it to him. XIAP deficiency is caused by a genetic change on the X chromosome, which boys inherit from their mothers. Amylynne had no control over what chromosomes she passed on to Nic, but as many mothers do, she struggled with feelings of guilt.
Nic was able to receive a BMT, but when he came home from the hospital, he experienced seizures for the first time and did not respond to seizure medications. The family investigated getting whole genome sequencing done for Nic to see what may have been missed; whole genome sequencing may find a diagnosis in up to 4% of cases where whole exome sequencing did not. The family was able to meet with a genetic counselor and appreciated her support in such a complex and trying journey.
Nic suffered from PTSD and behavioral issues and was diagnosed with Tourette’s. Amylynne had pharmacogenetic testing done for Nic and he was able to begin medications which he greatly benefited from. Medical bills were piling up and the family had to declare bankruptcy. At this time, Amylynne’s husband had a heart attack, and was subsequently diagnosed with PTSD; he began medication and therapy. Amylynne suffered immense guilt, feeling as though other family members, including her husband, were neglected due to her focus on Nic.
It took her time to realize she also needed to take care of herself. Amylynne wishes she had had more access to the services genetic counselors provide – she wonders if earlier intervention for her whole family could have created a smoother path.
Amylynne has now built relationships with many genetic counselors through her foundation as she works to make others who are searching for a diagnosis aware of their options for testing and of the guidance they can receive.
“We are so grateful to genetic counselors, you are all superheroes.” – Amylynne Volker
The audience was then treated to speeches by the patients who recommended each Code Talker Award finalist.
In 2018, Joy Anderson, LSW, was referred to genetic counseling for her son with Elizabeth Varga, MS, LGC, at Nationwide Children’s Hospital Columbus, OH. Elizabeth Varga discovered that a RUNX1 mutation ran in Joy’s family. Three family members tested positive. They are all grateful for Elizabeth’s compassion and effort with each visit and call.
“Elizabeth has validated every hesitation and concern I have had, but has also been our biggest cheerleader through all of this.” –Joy Anderson
Liza Talusan, PhD nominated her genetic counselor, Gayun Chan-Smutko, MS, CGC, from MGH Institute of Health Professions Boston, MA.
“She was delivering difficult news but she gave me the gift of knowing it wasn’t my fault. She knew I was worried and anxious and she built up my confidence. My family is thriving because of her.” – Liza Talusan
Caroline Stanclift’s mother was diagnosed with cancer when she was just a child. She encountered cancer a second time when a family member was diagnosed with stage four colon cancer. She went to Lauren Hogan, MS, CGC, at Beth Israel Deaconess Medical Center, Boston, MA to find out what her risk was. Lauren helped Caroline reframe the emotions cancer evoked.
Caroline was able to learn she did not inherit the mutation that ran in her family, while having her fears heard and validated. Caroline is now in a genetic counseling program, in no small part because of Lauren’s influence and guidance.
The 2019 Code Talker award was given to Gayun Chan-Smutko, MS, CGC, amidst a standing ovation. To nominate your genetic counselor or request a physical copy of the 2019 Code Talker book, visit invitae.com.
