Editor’s note: The following article is a part of the National Society of Genetic Counselors’ new patient blog post series. Written by real patients, these stories share a glimpse into the sometimes complicated world of genetics and the role a genetic counselor can play in helping people navigate their healthcare. If you are an NSGC member and have a patient interested in sharing his or her genetic counseling experience, please email Jennie Szink at firstname.lastname@example.org for more information.
By John K. Hershberger
Nov. 8, 2013, was a beautiful fall day until abruptly and tragically it wasn’t. Unexpectedly, my youngest sibling collapsed while raking leaves and died immediately at the age of 54. In the midst of the shock and grief of his loss, his family began a journey into the previously unknown world of a rare genetic heart disease. This world is filled with mystery and anxiety. An excellent local cardiologist in Elkhart, Ind., offered what he could, but he recognized this problem was beyond his scope of practice. Where to go now?
Involving a Genetic Counselor
In a convoluted process expedited by web searches and email, which we now view as very fortunate, we found an international expert at Ohio State University. This specialty team included a genetic counselor Amy Sturm (who serves as NSGC’s cardiovascular genetics expert). Her roles were multiple and essential. I’ve often wondered what her official job description actually looks like. For us, Amy was a translator, logistics manager, source of information, coach, encourager, guide and advocate in the foreign lands of a potentially deadly genetic condition and within a massive university medical research system – both of which offer imposing confusion to the novice.
The Testing Process
Eventually, six family members organized for a two day data collection and evaluation event at Ohio State University in Columbus, Ohio. The outcomes were very mixed, which produced awkward family dynamics. I, and later both of my children, received the very distressing news that we tested positive for the mutant gene that can cause sudden death and arrhythmogenic right ventricular cardiomyopathy. Amy provided, in a careful and caring manner, a balanced view of the findings from the labs and tests, realistic expectations, and options for clinical monitoring and interventions as needed. She offered realistic grounding to counter my growing worry and catastrophic thinking.
Sharing Our Family Health History
For us, [our genetic counselor] was a translator, logistics manager, source of information, coach, encourager, guide and advocate in the foreign lands of a potentially deadly genetic condition.Given these initial results, more family members and extended relatives needed to be informed of their potential risk and evaluated. However, our first cousins live all over the United States. So, where should they go for what? Amy served as a resource manager and navigator. A particular laboratory was recommended and contacts were established. Other major university medical research centers were suggested. To our relief, we discovered these researchers and clinicians are actually colleagues in the cause. Other cousins reported similar, positive experiences and gratitude for their genetic counselors as well. Ultimately, Amy became the manager of our family pedigree for this genetic exploration.
In an era of highly focused professional specialization and turf protection, I’m intrigued by the multiple roles, broad knowledge and skills, and flexible interpersonal engagement displayed by Amy Sturm and other genetic counselors. What accounts for such capacity? I suppose it should be due more to genes than environment. In any case, as patients, we know personally the invaluable contribution of genetic counselors.