I am home in Canuckia for a week, visiting various sets of parental units and generally taking a break. It’s been a good but busy time the past while: another conference, thankfully one in town, and I finished (!!) the book chapter. Or at least, I think it’s done, I’m going to try to read it tonight before sending it to a close friend and science colleague to read, before I have to send it in to the book editors. For fear that what I felt was a perfectly reasonable discussion is in fact garbage. Or controversial. Mostly I’m worried it might be garbage.
Pea and I spoke with a genetic counsellor on Thursday evening. I couldn’t get my fertility clinic to give me the codes for the possible tests, or the names of the tests, or their costs, or their accuracies. They stonewalled me on every point, saying their recommendation was to speak to a genetic counsellor, and if we didn’t want to speak to theirs, we could find one in Pea’s network. I was leaving town for a week, and my rubella vaccine wait period is almost over, and we didn’t really want to have to wait. So we bit the bullet, and paid them $325 for the pleasure of a 45 min phone call (we asked for phone, not them). It is possible my insurance will cover some of it, and we’ll be refunded, but it’s not yet known.
First few sentences of said phone call:
Genetic counsellor: “I understand you just wanted to order the tests and meet when we had the results, but there are decisions to be made as to which test to do.”
Me: “I didn’t want to order the tests, I wanted to know what they were so we could see if they were covered, and look into them a bit.”
GC: “Oh, well, we could have done that.” UGH
The tests boil down to two options. The basic marker-based PCR test that I underwent, which looks for 97 common mutations in the CFTR gene. It costs $200 and has a 93% accuracy for picking up defects in the CFTR gene in Caucasian non-Jewish populations (myself and Pea). With a negative, we have a residual risk of something like 1/1700 (the likelihood it missed something in Pea AND he passes that on AND I pass on my bum copy too). The second option is to just straight-out sequence the full gene and its promoter region. It costs $2,000 and has a 98% accuracy (there are large scale chromosomal rearrangements that happen very rarely, and would not be picked up by this). There is a 5% chance that IF something comes back as weird, it will fall into the “variance of unknown consequence”: a mutation that is outside the normal sequence, but which is not (yet?) associated with a known phenotype of disease progression. We got off the phone with insurance codes in hand, and Pea called his insurance. At 7:30 on a weeknight, west coast time. They picked up, and in answer to his queries as to whether either of these two codes were covered, the answers were “yes” and “yes”. Pea’s coverage is mind-blowingly good.
So. We have decided two things. First, we will sequence Pea’s gene. We think we can handle the uncertainty of a variance of unknown consequence if it turns up, and the more comprehensive test is free. We are not, however, going to wait the full month for those results to come back. We will sign the waiver for further CF testing, as we sat and discussed it (well, discussed it while Pea showered and I brushed my teeth, which is where we often have important talks, oddly), and agreed that even if we KNEW we were both carriers, we wouldn’t jump immediately to IVF and embryo biopsies and selection. We would roll the dice we had in hand, and try with the letrozole anyway, knowing we would have to screen a pregnancy and then make very hard decisions if it came to it. So we will marshall onwards. I’m day 24 of 28, so my waiting period is nearly over. Once back in town, I’ll set up the random ultrasound to kick this all off. I should probably order drugs online while I’m here, come to think of it.
I’ve asked my medical coordinator (the same one who stonewalled on the tests) if I should take progesterone to set myself up for being in the early days of a cycle for the letrozole. It took me four tries to get her to understand that (a) I wasn’t ovulating so I knew exactly where I was in my cycle. (b) I didn’t want to get there, do the ultrasound, and have them say “well you haven’t ovulated, and it’s day 40, so let’s get you on progesterone to start a new cycle” and then have another delay. This time a predictable delay, an avoidable delay. She asked my doctor and they said “no, let’s carry on as is”. I will be really annoyed if this is what happens.
So I am home and relaxing, and things are moving at a glaciers pace forward, so I suppose that is progress.