It's Not Always About the “Genetics”: Giving Patients What They Need

My story began a day like any other day, where I was to see a “routine” prenatal for advanced maternal age. I had seen hundreds of couples for this reason and considered myself to be quite experienced in the field as I had been working as a genetic counsellor for many years already, both in the area of prenatal and adult general genetics. So I was seasoned. I considered myself to be well equipped to handle any situation “genetics” could throw my way. Well, my not so routine prenatal case taught me that you can still learn a thing or two, and that not everything in genetics is genetic. It was a routine referral for prenatal counselling. The patient, who I will refer to as Ms. R was 35 years of age and 30 weeks pregnant. She came to the appointment with her partner, Mr. N. This was Ms. R and Mr. N's first pregnancy together. The only issue that came up in the medical history was that Mr. N had sustained a head injury 10 years ago and because of the injury had some problems with his memory. The counselling session progressed. Neither Ms. R nor Mr. N had a lot of questions. They sat quietly thought out the session, only responding to questions being asked of them. As Ms. R was quite far along in the pregnancy, they decided not to proceed with any prenatal testing. I gave the couple my business cards, encouraged them to call me if they had any questions and stood up to indicate that the session was over. The couple walked to the door at which point Mr. N informed Ms. R that he needed to speak to me in private and asked her to wait for him in the waiting room, shutting the door before she or I could respond to his statement. I could see the look of surprise on Ms. R's face as he shut the door. “Do you have some questions for me?” I asked. Mr. N, looking at his hands replied, “I don't think that this is my baby.” Ok, I said to myself. This is not the first time an issue of non-paternity had come up. “Why do you think that this is not your baby?” I enquired. Mr. N then told me that while he couldn't remember all of the details, he recalled seeing a medical specialist who told him that he would never be able to have children. Therefore he felt that this was not his baby and would I please contact his doctor and get the information from him. I must say my initial reaction was to consider my role in this situation. Was it ethical for me to be obtaining this information without the knowledge of Ms. R, who was the initial client? Did I have any obligation to encourage disclosure of this conversation to Ms. R? Or were Ms. R and Mr. N now both my clients, allowing me to in good conscience to pursue this without Ms. R's knowledge. After a short internal debate, I agreed to obtain the information and made a plan to meet again once I had the information. A week or two went by and my conversation with Mr. N was a bit of a distant memory. It had been a busy couple of weeks with new clients and new situations to attend too, when 1 day in the mail I received a letter from Mr. N's physician. Mr. N had seen an endocrinologist because of a long standing history of infertility. Mr. N and his previous partner had been trying to achieve a pregnancy for many years with no success. Investigations confirmed that Mr. N had Klinefelter syndrome. Given that I worked at the only genetics center in the city, I quickly looked into our records and much to my surprise confirmed that Mr. N had previously been seen for genetic counselling. Mr. N had been given literature about the condition and counseled with a very low probability of conceiving a pregnancy without the use of assisted reproductive technology. My initial reaction was to go online and review the literature. Could I find documented cases of pregnancies conceived in males with Klinefelter syndrome without assisted reproductive technology? My search came up empty. Ok, that doesn't mean that it can't happen, right? So I marched over to the office of one of the prenatal medical geneticists, literature in hand, and asked him whether he had ever heard of a man with Klinefelter syndrome conceiving a pregnancy naturally. A pensive look comes across his face, “No, I've not heard of a case before.” And we both agreed that while in theory it was possible, the chance of this happening would be very low. In all likelihood Mr. N was not the biological father. I had a plan. I called Mr. N and told him that I had the information from his doctor and that I wanted to schedule a follow up appointment to review the information with him in person. Mr. N then asked if I would please speak to his partner Ms. R so that they could make arrangements to come in together. I was surprised by this request. Why did he want his partner at this appointment? Did he forget, because of his head injury, what information he had requested I obtain? Did he want me to disclose the information to Ms. R and remove the burden of disclosure from him? Hmm, I was not comfortable with that possibility so I suggested again that we should meet first, just he and I alone, and then arrange to meet with Ms R afterwards. After a moment's hesitation, Mr. N agreed, and an appointment was scheduled for the following week. As the appointment approached, I went over in my head what I was going to say to Mr. N. I would begin by reviewing his medical history and then go through the diagnosis, discussing the implications of Klinefelter syndrome with emphases on the reproductive issues. I anxiously awaited his arrival on the day of the appointment, anticipating that there would be a lengthy discussion only to watch the minutes pass by as the time of his appointment came and went. Now what? Did he change his mind? Did he no longer want to know this information, or did he not come because I had suggested that we meet alone? Maybe because of his poor memory he just forgot. What to do from here? After some back and forth, and a brief discussion again with the prenatal medical geneticist, I decided to send Mr. N a letter outlining the information including the reproductive issues associated with Klinefelter syndrome and once again offer an appointment to discuss the information in more detail. Then I waited. A few more weeks went by and again I became busy with my prenatal clinics, when 1 day I received a phone call. It was Mr. N. He had received my letter, had read over the information. He stated that he understood all of the implications of this diagnosis. “But you see, since we had last talked, the baby has been born. A beautiful baby boy who looks just like me.” stated Mr. N. “He had dark skin, eyes and hair just like me. Could this not be my child?” “Well”, I begin “this would be very unlikely as mentioned in the letter, the chance that a man with Klinefelter syndrome would naturally conceive a pregnancy would be very low.” I started to launch into a dialog about the literature review I had preformed and the medical geneticist's view on the subject, when again over the phone I heard Mr. N's voice “But he looks so much like me.” I stopped and thought of Mr. N's years of infertility, and how very hopeful he sounded over the telephone. In my heart of hearts did I believe that this was his biological child? In genetics the first rule of thumb that we learn is never say never as for every genetic rule we make, an exception comes along and breaks that rule. Was it possible? Yes. Was it probable? No. I did not believe that this was his biological child. But that was my opinion. Who am I to take that glimmer of hope away from him? Our job as genetic counsellors is to realize that it's not just about the “genetics” but about being supportive to our client's needs, listing and understanding what it is that they really want and need from us. In a moment of clarity I realized what I needed to say to Mr. N. “If you believe that this is your child, then it is.” Mr. N sighed and said “Thank you.” We said our goodbyes and I wished him and his new baby all the best. I hung up the telephone and thought to myself, I feel good. I think about when I first started out in this field and how I would have dealt with this situation. I think I would have felt compelled to make sure Mr. N truly understood the genetics of Klinefelter syndrome, and I most likely would have tried harder to make him understand the reproductive implications. I definitely would not have felt good about how the conversation ended, worrying that I had misled him, and that he would go through life with that misconception and how would I ever be able to live with that! How foolish I was back then. I put my needs and agenda aside and gave Mr. N what he needed, and if I had to do it all over again, I wouldn't change a thing.

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