By Aimee Tucker Williams
Aimee Tucker Williams is a board certified genetic counselor. She spent 8 years as an Assistant Professor at The University of Texas Medical School at Houston and was a major contributor to their Genetic Counseling Program prior to a geographically forced retirement. Aimee is now a Professor of All Things Mom to her daughters, ages 4 and 2, and once again lives in Houston.
I remember my first abnormality as a genetic counseling student. It was a routine AMA case that I hadn’t put much thought into….because by then I had done about 20 AMA sessions and aren’t they all the same? The woman was 38 years old and had the kind of shrewd and steely exterior of many of the patients I encountered in my briefly adopted home of Chicago. I didn’t have any sort of empathetic connection with her and frankly, she intimidated me, so I happily went on my way post-session, warm in the knowledge that I would never see this person again. Well, as seems to happen more often than not, the patient that intimidated me became the patient that was carrying a pregnancy diagnosed with Trisomy 18. She was the patient that I would have to call and inform of this news, the first patient that I would have to counsel and console.
I was petrified. After a number of failed attempts to complete the phone call, I forced myself to dial her home number and prayed that she wouldn’t pick up the phone. She did. I stammered my way through the initial disclosure of information. While I don’t remember the words I used to convey the news, I remember their seeming pitifully inadequate for the situation at hand. And while I barely remember my further interactions with this patient, I know that I counseled her regarding the diagnosis, potential outcomes and options. What I do remember is that although I felt some compassion for this person and what she was going through, I felt very little empathy. I watched her leave the session thinking, “thank goodness that is over for me.” My fear of this woman prevented me from giving her what she needed, and although I knew that and regretted it at the time, my concerns were centered more strongly upon my own personal relief.
Flash forward 10 years later. I am pregnant with my second child and will be AMA at delivery. My family and I are living in Brazil at the time, where abortion is illegal and amniocentesis is not routinely offered to anyone under the age of 38. My ob/gyn is reluctant to schedule me for an amniocentesis despite my urging and so, I take matters into my own hands and schedule myself for genetic counseling and a CVS during a serendipitously planned trip to the U.S. I am frankly excited to go through the entire process, and while my husband’s knowledge of genetics has been extensively developed by osmosis after years of hanging out with counselors and their spouses, he still deserves to get the whole “spiel” prior to testing.
While you could never call me steely and I can only use the word shrewd to describe myself in relationship to bargain hunting, I strangely found myself in the shoes of my first abnormality patient that day. Apparently the counselor who had been given our chart that morning had not been informed that I was a colleague. The counselor (who I will call “C”) was a recent graduate and did a wonderful job of giving us the pertinent genetic information; but I could sense that “C” was intimidated by me as I was by my patient years ago. I could practically hear “C” breathe a sigh of relief as we left the office, thankful that that session was over. Unfortunately for my husband and me, our genetic experience was not destined to be over. About a half an hour later, we found ourselves in a darkened ultrasound room quickly, and dare I say, shrewdly, making the decision to terminate a much wanted pregnancy. The baby had a lethal birth defect and we knew, as we had always known, that we would not continue a pregnancy in that situation. The MFM did his best to help us coordinate a termination during our short visit, and when he couldn’t, we asked to be shown to a room where we could make some phone calls and arrange for a termination in Houston, our next stop in our US visit.
The first person I spoke to after being shown into a consultation room was a genetic counselor. I called my colleague and friend in Houston and, for the first time since being given the heartbreaking news, cried out my pain and disappointment over our loss. She and others arranged for our termination procedure later that week and supported me as friends and genetic counselors do. I never saw our genetic counselor again. I don’t know why “C” never came to see us. It could be that the MFM felt we had already been served as we had made our decision regarding termination and “C” agreed. It could be that “C” was never told about the abnormality. Or, as I fear, it could be that “C” was so intimidated by counseling someone more experienced than themselves, that we were left alone with the rationalization that I clearly had the bulk of the information I needed to handle this situation.
The thing is…we didn’t have the bulk of the information. At that moment, all we had was grief. All we had was sadness, followed by numbness, followed by the surreal experience of being pregnant with a baby that in a few days time would be removed from my body because of the results of a half-hour ultrasound procedure. I spent the next few days visiting with family and friends, taking my husband and daughter sightseeing and suffering from continued morning sickness, all the while reminding myself that I was no longer pregnant with a baby we were going to have. We went through the gamut of emotions and experiences I had only heard or read about in my 10-plus years of experience, and likely had some unique experiences as well. But, we never had anyone sit us down and lay all of the genetic information that went along with our baby’s diagnosis.
A week later, after all had been said and done, it finally occurred to me to do research on the Internet regarding the diagnosis we had been given. I was mortified to realize that the anomaly, which I had immediately assumed to be of multifactorial inheritance, could be suspected in both an autosomal recessive condition and in a sporadic one with a fairly decent recurrence risk due to gonadal mosaicism. My first reaction to this news was anger at myself; why hadn’t I thought of these possibilities! My second reaction was fear for our future; would we want to attempt another pregnancy unarmed, so to speak? My third reaction was anger at the MFM; why didn’t he continue the scan to the best of his abilities, ruling out any further abnormalities that may signal a condition with a sizeable recurrence risk? To this day, I have never been angry at the genetic counselor. Should I have been?
No, I can’t be angry at “C”; if I were, I would have to be angry at myself for past sessions where I was the “counselor intimidated.” What I can hopefully be is helpful, by reminding my colleagues that even the intimidating patients can benefit from the most basic of counseling strategies. Simply walking into the room and telling the patient that you are truly sorry for the situation they are facing is more beneficial than you realize. Every patient will do what they will with this statement…some may say thanks and shut you out, some may cry inconsolably, some will ask you to stay and support them. The point is, you were there for them in whatever capacity they required and this is nothing for you to fear. Speaking from a more logistical (and legal) standpoint, remembering that you are responsible for giving every patient the genetic information they need in a way that they can hear it is key. Ultimately, you are responsible for recurrence risks and you must find a way to get that information across. I can guarantee you that in a matter of a couple days, weeks or months, that patient is going to wake up one morning and say to herself, “Could this happen again?” Lastly, you must never assume a thing about your patient’s needs. You could have a Nobel Prize winning geneticist sitting in front of you, and they will still require you to lay out their pertinent genetic information in a manner appropriate to their situation; you may someday counsel a vocal pro-life politician who would consider termination if placed in the position we were in. You just never know what to expect.
We are fortunate to be in, and constantly challenged by, a field that gives us a unique opportunity to help hapless individuals, such as myself, navigate the unexpected. But the unexpected can do crazy things to us and to our patients. While the points I raise above sound fairly simple, they can sometimes be forgotten when confronted by a patient who pushes our own personal “fear” buttons. I was that patient, and I have to say that the fear I felt while sitting in that ultrasound room was monumentally greater than any fear I ever felt as a counselor. Hopefully our story will help you to keep this in mind during your practice.