Meeting with the Geneticist

Meeting with the Geneticist (6-9-05)…
David and I left for the Indianapolis University Medical Center in Indy at around 8:20am. We were both feeling really tired because we had somehow managed to get another poor nights sleep last night. In many ways David and I have felt like we have been waiting for today, thinking that we will get a lot of our questions answered. Yet in many ways, we really didn’t know what to expect and what we would actually find out. We were fairly certain that it would be confirmed that David was the carrier of the translocation. David and I had assumed this since finding out the news since his dad’s twin died 3 months after birth from abnormalities that sounded very similar to what we have read on Trisomy 13.

We entered the hospital and found our way to the prenatal diagnostic center where we waited for about 30 minutes for our appointment. The room was stale and felt like the arctic. I was so cold that David took off his shirt for me to wear. Fortunately, he didn’t seem to mind sitting there in his plain white undershirt.

The genetic counselor (Kristyne Stone) entered the waiting room, called our names, and led us across the hallway to her small office where David and I attempted to get comfortable on the love sofa that was crammed into her office. Kristyne initially asked us what we had been told to this point. I talked a little about the Trisomy 13 diagnosis and that we had been told that any proceeding offspring would likely have the disorder as well. She shook her head in disagreement and started looking for results from our genetic testing. Kristyne said that our results had not been sent to her. In unison, David and I both said, “You have to be kidding.” I could feel the frustration welling up inside. Kristyne called down to the lab and asked if our results were there. She found out the preliminary results and told us that they would be faxing the results up to the office. Kristyne told us that the lab indicated that I have a balanced translocation between my 13th and 14th chromosomes, meaning that part of my 14th set of chromosomes in on the 13th spot but that in the end I still have 26 pairs. She said that David’s chromosomes were normal. This was a shock to both of us and again, I just didn’t know what to think. This was not at all what we expected.

Kristyne stepped out of the room for a while to get the fax from the lab. When she walked out David hugged me and tears came to my eyes. I composed myself before she walked back into the room to show us the results. Sure enough, even though I am “normal”, I have a balanced translocation. Conceiving a baby with Trisomy 13 only occurs 1 out of 5000 times meaning that we are in a category that less that 1% of the population is in. Only a fraction of those carry a Trisomy 13 baby beyond the first trimester. Why is it that we seem to be the rare case? Kristyne could not tell us anything new about the odds of Zoe surviving. She just quoted what we have already read in our own research.

Kristyne took out a pen and showed us the possible chromosome combinations in children that we would conceive with regards to our own genetic make-up. She diagramed 6 possible scenarios. Kristyne stated that 3 of the possibilities end in early miscarriage, often (but not always) before even knowing that you are pregnant. The fourth possibility is conceiving a child with Trisomy 13 which also typically ends in an early miscarriage but can sustain longer like Zoe. The other two possibilities would be healthy pregnancies: a normal chromosome combination and a balanced translocation like myself. Kristyne expressed this information as if it should be positive. She stated that since three possibilities generally end in early miscarriage and the possibility of having another child with Trisomy 13 is less than 1%, that would mean that our likelihood of conceiving a normal child is very high. I felt confused and wondered if I was supposed to feel good about 3 out of 6 pregnancies resulting in early miscarriage. She also confirmed that this is likely part of the reason that it took David and I almost two years to get pregnant with Zoe.

I was fairly quiet as we left the office and headed out to our car. David said, “honey, this makes no difference to me.” My emotions were much different. We were prepared to hear that it was David but to know that it’s me feels much different. Though irrational, I was now feeling that I was the cause of our 2 years of infertility and that it was my fault that our precious little Zoe has Trisomy 13. I remained very withdrawn as we drove to lunch. I expressed to David the irrational thoughts that I was having and he seemed to understand though he did not agree. David assured me that there is nothing that we could have done any different and that we were not behaving irresponsibly when we conceived Zoe.