When Worlds Collide
By Michael Osborne, Class of 2011
When Randi initially contacted me with a request to share my perspective on genetic counseling, I suspect that she wanted me to comment on some of the unique ways that I have put my ‘MS, CGC’ to work. In total, I spent three years in direct patient care at The University of North Carolina at Chapel Hill, Division of Maternal-Fetal Medicine, then spent four years at Ambry Genetics representing their whole exome sequencing and cardiogenetics product lines. Although I could certainly construct an entire essay on my experiences working in both clinic and industry, I instead decided to share how a personal crisis changed my perspective on patient care and genetic counseling.
In August of 2017, I found out that I was going to be an uncle. Having made the decision many years ago not to have children of my own, this was to be my first-born. After a mostly uncomplicated, low-risk pregnancy, ‘Landyn’ Noel Doss was born on the early morning of Sunday, April 15, 2018. However, joy and excitement were quickly replaced with fear and uncertainty –Landyn did not cry. Landyn appeared to be struggling to breathe. Landyn was blue. Serendipitously, for unrelated reasons, the NICU team was present in the delivery room and feverishly began to work on Landyn. In the minutes that followed Landyn’s birth, wires, monitors, tubes, and a CPAP machine substituted for the lifeline provided by the umbilical cord only a short time earlier. Before my sister or brother-in-law were able to hold their son, Landyn was whisked away to the NICU.
Shortly after being informed of Landyn’s dramatic entry into the world, I tracked down one of the NICU doctors. With my experience in high-risk pregnancies at UNC and with cardiogenetics at Ambry, I wanted to inquire about the planned follow-up for my nephew. Given the ‘blue baby’ label, I falsely assumed that my nephew would be evaluated for a congenital heart defect. Instead, when I was able to visit Landyn in the NICU for the first time, I was told that ‘the NICU team has babies born all the time that just require a little initial assistance with breathing’, and that ‘Landyn would be taken off of the CPAP in 24-48 hours’. Landyn appeared stable in the NICU and had turned a rosy pink color while on CPAP, so I (regrettably) did not press the issue any further.
The next day, I received a text message from my sister stating that one of the NICU nurses had noted a murmur when listening to Landyn’s heart. A follow-up echocardiogram confirmed my initial suspicion: Landyn had been born with a constellation of life-threatening heart defects.
Without further explanation, my nephew was transferred to Duke University Medical Center by helicopter. In addition to being mentally exhausted, my sister and brother-in-law were now physically separated from their son by over 100 miles and a two-hour drive.
Upon arriving to Duke, Landyn was officially diagnosed with (1) an ascending aortic coarctation, (2) a descending aortic coarctation, (3) a ventricular septal defect, (4) a bicuspid valve, and (5) a tethered mitral valve. The CT Team at Duke, unlike the providers that cared for my nephew during the first 24 hours of his life, met with my sister and brother-in-law on numerous occasions after Landyn’s admission. These providers took ample time to explain the diagnosis, the required treatment, possible complications, and expected prognosis. When I had questions about the genetic testing that was going to be ordered on my nephew, the CT surgeon elicited my expertise in cardiogenetics and ordered the microarray and panels that I recommended. My family was armed with the necessary information to make informed decisions surrounding my nephew’s treatment and management.
Landyn underwent open-heart surgery at eight days of life. I am happy to report that the surgical correction was a resounding success. The surgery was curative, and all follow-up cardiac evaluations have been normal. No additional operations are anticipated at this time. Landyn is meeting all of his developmental milestones, and all genetic test results returned ‘normal’. Perhaps even more miraculous, since being discharged Landyn has survived multiple solo babysitting adventures with me, his adoring ‘Uncle Momo’.
I never imagined that my training and experience with crisis management would intersect with my personal life. But it did, and I was forced to learn new lessons in resiliency, coping, and empathy – lessons that I can now incorporate into any role to which I apply my genetic counseling degree. One of the outstanding facets of genetic counselors is our desire to educate patients. I think back to my days in MFM clinic, and how easy it became to breeze through my ‘AMA spiel’ without pausing to check for understanding or elicit questions. The Duke CT Team that cared so tenderly for my nephew consulted many patients each day, yet the counseling my family received did not feel rushed or forced. I now have such an appreciation for this caliber of patient care.
If I find myself in direct patient care again in the future, I hope that I can remember that sentiment. No matter how many times I have uttered a particular explanation, it had not been previously heard by the family in front of me. We have the opportunity – and the privilege – to increase patient understanding, alleviate patient anxieties, and contribute to informed decision-making. What an honor.
In addition, we need to remember that we are advocates – for our patients, and for our families. Even with my education and relevant experience, I was bullied into silence when I suggested a possible structural defect after Landyn’s birth. To this day, I regret this. Most patients do not have our clinical backgrounds, and as such, are likely even more vulnerable during times of crisis. Their questions may be swept under the rug, lost in the shuffle – or they may not even know which questions to ask. In addition, patients may not have access to health insurance, or may have insurance policies with genetic testing exclusions. I see patient advocation in action in the diverse work of all of my classmates – whether they continue to work in direct patient care, have infiltrated the managed care landscape to promote for genetic coverage, or serve to increase appropriate utilization of genetic testing by non-genetics providers in the industry setting.
On an unrelated note, a final unique perspective that I bring to the table is my experience as a male in the female-dominated genetic counseling field. To put it succinctly, I consider it a gift to collaborate with intelligent, compassionate women in science every day. Keep advocating for yourselves, and for our field. I promise to do the same.