Two People

Two Genetic Counsellors

Thursday, we heard back from a genetic counsellor, J,  at Reprogenetics, the lab that would perform the bespoke pre-implantation genetic screening (PGS) on our embryos.

The good news is that they can design a bespoke PGS probe (what is called aCGH) and its accuracy is in an “upper 90s” percentage range.

The bad news is that they “…expect the majority, and possibly all, of the embryos to have the unbalanced form of the inversion.”

This has come as quite a shock because we had understood our overall risk to be 5-10%. How did this happen? Clever DH figured it out: Simply, the first genetic counsellor based her 5-10% risk on a live birth rate, but the second genetic counsellor based this on actual embryos.

This two pieces of information do not conflict, surmised DH, but they are taken at different points in time: right after conception vs. after birth.

The first genetic counsellor, C, works for the medical centre where I have been receiving all my health care and typically sees couples who have learned there is a problem with their spontaneous pregnancy. (That we were sitting before her, unpregnant and armed with knowledge was, in her opinion, “fortuitous.”)  She is, therefore, basing her 5-10% risk assessment on (1) a naturally conceived baby who (2) makes it to term. This estimate factors in the risk of miscarriage, so put another way: assuming I get pregnant and stay pregnant, there is a 5-10% chance that such a baby would have Recombinant 8 Syndrome. Crucially, this estimate does not factor in the likelihood of having chromosomally normal embryos to begin with, and this the part we missed when we inferred that our overall risk was a relatively low 5-10%.

Bottom line: given that I have a 3% chance of conceiving in any cycle and probably have genetically abnormal eggs (see next part), it is highly unlikely that I will ever have a spontaneously conceived healthy baby.

The second genetic counsellor, J, works for Reprogenetics, the lab who will perform the genetic testing (aCGH) on the embryos. J has said she expects “…the majority, and possibly all, of the embryos to have the unbalanced form of the inversion.” which rather makes C’s estimate a moot point — how am I supposed to cross the finish line if I can’t even leave the stable? Not to mention, given that I don’t have many eggs to begin with, it doesn’t look promising. As an interesting side note, I may not have inherited my chromosomal inversion. I might be de novo — genetic-speak for a spontaneous mutation.

It’s taken me a couple of days to digest the numbers and put them in a visual format that I can better understand. Here’s a flowchart which compares the risks at each stage of both a spontaneous conception and  IVF + ICSI* + PGS (but it doesn’t factor in potential loss of embryos through freezing and thawing and re-freezing for Frozen Embryo Transfer [FET]):

*Although ICSI (where they select a sperm and inject it directly into the egg) is usually performed when there is male factor infertility — something DH doesn’t have — it is almost always done when you do PGS (Pre-implantation Genetic Screening).

Click Image to See Full Size

The Head and The Heart

The Head says, Use donor eggs. It’s more expensive than IVF+ICSI+PGS, but there is a better chance of a happier — and quicker — outcome. The Head jokes that this is an economical a no-brainer.

The Heart says, Try with your own eggs first. Yes, it will probably be a bust, but at least then you’ll know. You won’t spend the rest of your life wondering, “What if I’d tried…?” The Heart reminds me that my grandmother has left me enough me a sum of money that would cover one cycle and make a dent in a second. We might fail with my own eggs, but perhaps that is the only thing that will propel us open-hearted into using a stranger’s eggs.

The Head logs on to the database of donors and scans young, fertile women who I might choose to be the genetic mother of my children. The Head filtres the results by height (above 5’8″, because I am very tall) and Caucasian (because a mixed race baby might cause others to speculate about my faithfulness to DH) with similar colouring to me. DH, also Caucasian, jokes about using a donor of mixed-race and asking people, Be honest: d’you think the kid looks like me?! and we laugh and laugh and laugh.

The Heart searches for young, fertile women who have an artistic temperament, write thoughtful responses to the questions, and are open to meeting us and the child.

There aren’t many women who fit our criteria, but there is a 23-year-old in Houston, TX, whose page we keep going back to.

The Internal Dialogue

A sad and quiet little voice states the impossible to hear:

You are a freak of nature.
You are one in six billion.
You are a genetic mutant.
You cannot reproduce.
You are cursed.
You have no place in the world.

I have no retort. This is my simple biological truth: if we go with the theory that in nature it is the fittest who survive, I, at some biological level, am unfit to be a mother. If I cannot reproduce — that most fundamental of biological urges, what is supposed to be every creature’s biological legacy and rite of passage — then what else can I contribute to this world? I die out. I must accept this, and almost have.

Almost. For the first time in my life this afternoon, my voice cracked mid-sentence as I explained our dilemma to a reproductive trauma who DH and I will see next week.  In the depths of trauma, I cry easily, but never as I do What Must Be Done. My practical side shuts out the emotional side temporarily, that most British of postures, the stiff upper lip. But this afternoon, something got caught in my throat and the crying took over, just for a minute.

Really? Donor eggs? I know I considered the idea, but has it really come to this?

I am not opposed to playing god with another woman’s eggs — although, clearly, I’m not there yet. But science cannot trump nature. There is no diet for me to go on. I can’t cut out my chromosome or laser parts of it off. I can’t wish it away. There are no medicines I can take but this bitter pill.  Them’s the cold, harsh facts.

Strangely, although it is shocking to me, the grief of passing on my genes, though it lingers, will be short-lived. The greater loss is potentially not having a child with DH. We might not have a child together. There is so much more to being a parent than genetics or how a couple comes to conceive their baby. The further along in the journey we trudge, the lower we keep setting the bar. How naïve I was all those years ago to offer  to be a surrogate for my gay brother one day. How foolish to think all it takes to make a baby is stop using birth control. How desperate to imagine I would be pregnant again by my undue date. How angry I am when I think of other people’s well-meaning but stupid advice–these things happen…, it could be worse…, imagine if…, statistically, next time… … There is no next time! I bravely and gamely accepted the idea of IVF with my own eggs, and now there’s the real possibility that even that isn’t a possibility?

For now I have to keep trudging along. I have to go through with IVF using my own eggs. How else do DH and I reconcile giving up on a dream of having a child to whom I am genetically linked?

I am a person split in two, stitched with the What if strings of despair and hope, and knotted by the fucked DNA that is the thread of my very existence.