Editor’s note: The following patient essay was a finalist in the annual Code Talker Award, presented by Invitae at NSGC’s Annual Conference. The Code Talker Award was established to recognize the impact genetic counselors have on the health and lives of patients.
Genetic Counselor: Lisa Johnson, MS, CGC, Miami Valley Hospital
Nominated by Shana Anderson
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.”
My world went black. I hung up the phone. I fell to my knees and cried. I saw no future, no baby names, and no strollers — just black. By 3:00 pm, we were back in her office. Her eyes were empathetic, her tone apologetic, and her presentation informational. She showed us our baby’s karyotype, reviewed charts, and gave us a trifold brochure titled “Your Baby has Down Syndrome.”
A meeting to tell parents that their child has a definite, permanent, life-changing disability is not something that can go well — even for a genetic counselor who does everything perfectly. Dreams will be crushed. Faith will be tested. And whether stated implicitly or explicitly, the parents are marching on a path with a ticking clock that demands a dreadful decision. We had no complaints about how Sarah conducted the meeting. She was perceptive, patient, and she also recognized her own limitations. No glossy brochure, diagram, or medical journal article could tell us the answer to the ultimate question that we needed answered: “Will our child have a life worth living?”
“There’s something else I wanted to offer to you,” Sarah said slowly, watching our faces intently. “I have a co-worker… she is also a genetic counselor like me, and her daughter has Down syndrome. Would you like to talk to her?” I meekly nodded my head “yes.”
A few moments later we met Lisa Johnson. I can say definitively if anyone else had walked through that door, our lives may have been very different today. Lisa greeted us with a firm handshake, a confident posture, and an unapologetic response to our son’s diagnosis. Her professional training and years of practice as a genetic counselor enabled her to answer my husband’s questions. Her experience as a mother allowed her to answer mine. Very few genetic counselors have the same personal anecdotes to draw from when answering questions. While some may see this as an advantage, I would argue that it makes Lisa’s job more difficult. She has a daughter with the very condition that our son was diagnosed with, yet she was tasked with remaining unbiased and neutral — a requisite she took seriously.
What made Lisa exceptional was that she correctly identified the real struggle that we were facing. We were not a couple in search of a perfect baby. We were imperfect parents, suddenly faced with our own flaws and limitations. We wondered if our marriage, our family, and our capabilities would be enough to raise this child. Our son’s diagnosis put us on a painful path of self-discovery — and it was terrifying.
In these situations, the circle of those to trust becomes very small. Even the closest family members and friends who have good intentions will have their own prejudgments, expectations, and misconceptions that only complicate an already anguishing process. An exceptional genetic counselor may, in fact, be a rare friend along a lonely journey. Lisa was mine. We needed room to experience the broad range of powerful emotions that comes with such a difficult, irreversible, and consequential decision — supported by accurate information and unfettered by worries of judgment. Lisa delivered. No matter what we decided, Lisa would have remained our strongest pillar of support and shown us nothing but respect, encouragement, and dignity throughout the process. The most valuable gift that she gave us was a safe space to ask questions and her full commitment, regardless of the outcome. On May 8, 2014, we welcomed our son, Reeve, into this world. Lisa remains a true friend and a cherished part of his story.
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