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17 May 2010

Mars and Venus in the Office of the Genetic Counselor

This is part one of my account of our Day of Tests at the Colorado Center for Reproductive Medicine

We flew to Denver on a Thursday afternoon, March 22, our puppy slightly sedated and stowed safely beneath the seat in front of me. It was an hour’s wait at the rental car agency, before we got a car, and then, when we’d loaded our bags and the puppy and ourselves into the car, we discovered it wasn’t working, so we had to get a new one. Then it was a 45-minute drive to the hotel, and takeout for dinner, and then we were ready to get some sleep before our big day. Except that I couldn’t sleep at all until 6 in the morning, and then the puppy wanted to go out at 7, so I was not at all rested when it was time for our first appointment at 9. And since I had to give up all caffeine in preparation for my uterine blood flow Doppler ultrasound, including decaf anything and including chocolate, I was really running on adrenaline.

Oh, one more thing, before I came to CCRM, I had the idea that it was going to be both technically amazing and also patient friendly. I had an image in my mind of arriving and meeting my nurse and then being talked through everything that was going to happen and then having that nurse check in with me throughout the day. This is not the way it works. When we woke up, there was snow on ground. So my first experience of the day was of watching my puppy trying to figure out where all the grass had gone. And then we crated the puppy and got in the car for the 1.5 miles to the clinic. Between my inability to navigate properly using my iphone and the snow-related traffic, we were late to our appointment, so my husband dropped me off right in front of the door, and I stumbled through the slush to the front door. When I opened the door, I saw a large, pleasant waiting room, with a water feature in the middle of the room, water streaming over a long granite slab that read Colorado Center for Reproductive Medicine. On either side of the room, there was a long desk, and women sitting behind the desk and men and women in line in front of the desk. But there was no sign explaining the division of labor between the desks. So I went to the one on the right, the one with the shorter line of men and women, and when I got to the front of that line, a not-particularly-friendly woman told me to go to the other line, so then I stood in that line, and finally was able to check in. Whereupon I learned that 1)I needed to pay for each appointment as I went along during the day, and 2) that I had left my wallet in my hotel room. I convinced this woman, also less-than-friendly, to let me pay for my first appointment after lunch, when I could retrieve my wallet while running back to the hotel to walk the puppy.


Our first appointment was with the genetic counselor, Danielle. She had been through our files and knew we were interested in the CCS testing, so she explained it in detail, even more detail than the Schoolcraft book. In addition to the CCS testing on the embryos, which is basically done to count all the chromosomes on all the embryos to make sure we don’t have extra chromosomes that cause fatal genetic abnormalities and thus result in miscarriage, we talked about all the potential genetic diseases my husband and I might be carrying, given our ethnicities and family histories.

Here’s where the fun began, with the family history. When she asked my husband the cause of death of his paternal grandparents, he reported that his maternal grandmother had ALS, and his paternal grandfather had Huntington’s. Now, I had just heard about the ALS this fall, when I saw it on his family history form for our last round of IVF. And that was enough of a shock, since I had never heard about it previously in our 3.5 years of marriage or 3 years of dating prior to marriage or 15 years of friendship prior to dating.

But, okay, it was on the form that both his paternal grandmother and paternal grandmother died of ALS. What was done was done, and we moved forward.

But now, we were sitting in front of the friendly blonde Colorado genetic counselor,and my husband has just told us that his paternal grandfather died of Huntington's disease. And all of a sudden we are talking about whether my husband’s father is exhibiting any neurological symptoms and I am thinking about the character on the television show House who has Huntington’s and how it is clearly a very life-changing piece of information, and whether we will find out whether my husband has it and does this mean he will die early, and what will I do and where will I move and My God I wish I had a double latte, and the blond genetic counselor is still talking and suddenly my husband says, “Excuse me, can I just say that I made a mistake?” And I turn and look at him, and the blond genetic counselor says “Yes, please! It’s not Huntington’s, is it?” And my husband says, “No, it’s Parkinson’s.” And the genetic counselor says, “I am so happy to hear that.” And I say, “Yes, so am I, especially since this was the first time I’d ever heard anything about Huntington’s.” And the Genetic Counselor looks at me and says, “Wow, I really have to give you credit. You didn’t bat an eyelash.” And I turn to my husband and say, “And what is this about Parkinson’s? I thought it was ALS?” And he says “No, I asked my mom, and she says that my grandfather had Parkinson’s.” He takes my hand in his and says, “I’m sorry.” And he turns to the genetic counselor and says, “I’m so sorry. I’m actually not an idiot. I’m actually very smart. I just haven’t had my coffee today.” And the genetic counselor just seems extremely happy not to have to counsel us about Huntington’s, and does not suggest that we go to some sort of remedial marital communication class to discuss our inability to communicate about our respective family histories of genetic disease.
And thus concluded the first half hour of our day at CCRM.

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