April 22, 2009


One of my cherished new readers pointed out last night that there is a blogger who wrote about her family's ordeal with balanced translocation. I am reading the archives of Here Be Hippogriffs now. One post I think might be educational for my readers, especially the chromosomes made out of play-doh: Balanced Translocations 101.

I don't know if this story will type as well as it's told in person, but I was doing some research on my chromosomes yesterday. I told my mother over the phone that chromosome 7 was related to things like schizophrenia, cystic fibrosis, and deafness. "What?" she asked. "DEAFNESS." "Huh?" she asked right at the same time I was repeating myself. "Being DEAF," I practically screamed. Then we both cracked up.

Thank you for your kind words and your wows and your tempered optimism for the future. Everyone has responded beautifully. I am doing OK and letting everything slowly sink in. I am still on the high of having an answer, but actually, this is a crappy path to be on. I don't want to do IVF. I really don't want to do IVF by myself while my husband is in Afghanistan. How am I gonna give myself shots in the butt alone? I dread that, truly. Thinking about it already makes me panic.

But, distractions abound. I am happily attending the 2009 Milblogs Conference this weekend. And...my husband will be going with me! I am excited to see my imaginary and real worlds collide. We will be staying with AirForceFamily, which is always fun, and Charlie gets to torment pit bulls again. Plus I am excited to see AirForceWife's knitting. She has been at it for a while, but I've never gotten to see her stuff. She's all nonchalant about it; conversely, I am all "everyone should see how jacked and tan I am" about my knitting. So yay.

And I think I get to see someone I haven't seen since 1995. So that's fun.

So yeah, check out those play-doh chromosomes...

Posted by Sarah at 02:56 PM | Comments (1173) | TrackBack

April 21, 2009



Remember when I said my husband and I should play the lottery? That we had managed to hit 1% and 5% probability for our pregnancies?

I just hit 0.16%.

Yesterday, due to yet another snafu with The Fertility Clinic Of The Absurd, I got a preview of today's appointment: something did indeed come back on our genetic testing. I spent all night and all morning freaking out. I could barely concentrate on anything, barely breathe even. And when I got to the clinic and shared a bustling waiting room with jovial nurses and at least six very pregnant ladies, I broke down crying. Not my finest moment. (I absolutely hate that fertility patients meet in the regular old ob-gyn clinic. Talk about having it rubbed in your face constantly.)

We finally got into our own room, and the doctor handed me the results of the chromosome analysis.

Ladies and gentlemen, I am an X-man.

I am the 1 out of every 625 people who has a balanced translocation between two chromosomes. Luckily, google was invented so I could figure out what in the heck that means.

A translocation is a change in chromosome structure in which chromosomes are attached to each other or pieces of different chromosomes have been interchanged. An individual with a translocation is unaffected if there is no extra or missing chromosome material and if the break in the chromosome did not disrupt gene function. If there is no additional or missing chromosome material, the translocation is considered to be "balanced." A translocation is "unbalanced" if there is extra or missing material.

Individuals with balanced translocations typically have no medical issues though some do have fertility concerns, such as reduced fertility. The concern regarding having a balanced translocation is that, though the individual is healthy, the egg or sperm of that individual can have an unbalanced chromosome make-up that leads to the resultant embryo or pregnancy being unbalanced. The presence of an unbalanced translocation can lead to an embryo not implanting, a pregnancy being lost or a child being born with mental and physical problems. Individuals with a translocation may, therefore, experience multiple pregnancy losses or have a child affected with physical and mental problems that may be lethal.

Translation: no natural babies for us. We have been referred to geneticist at a Big Name Hospital in the nearby metropolis, so I will be calling tomorrow to try to get an appointment there. They will be able to tell me if the particular translocation I have means that I can even procreate at all, and if so...it won't be in our bedroom.

See, I told you it wasn't stress! (wink)

If we are to have any chance at all, it will have to be with IVF using Preimplantation Genetic Diagnosis. Google again, how did I live before you?:

Preimplantation genetic testing is a technique used to identify genetic defects in embryos created through in vitro fertilization (IVF) before pregnancy. Preimplantation genetic diagnosis (PGD) refers specifically to when one or both genetic parents has a known genetic abnormality and testing is performed on an embryo to see if it also carries a genetic abnormality.

I know we discussed this a little when I wrote that post on designer babies, and I debated whether to even mention that this is the route we'd have to take. But I decided that I have no ethical qualms about investigating this line of action, so I truly don't want any commentary if you think this is "playing God" or something. Please. I respect your position, but I'd prefer if you not advocate for it here.

Once we meet with the geneticist, we will have to decide if creating a Baby Grok will be worth the extraordinary complicated and fretful process. Nothing guarantees that PGD will even work: in this clinic in New Jersey, "in approximately 22% of cycles, all the embryos were chromosomally abnormal." But, if we could get some embryos who aren't mutants like their mother, the end results look promising...or at least better than the crap sandwich we've recently been eating:

Reduction in the Chance of Having a Child with the Translocation
Our personnel have performed PGD of translocations in over 100 cycles. Normal or balanced embryos were available to be transferred to the patient in the majority of cycles. Pregnancy occured in approximately 40% of the cycles with transfer. None of the delivered babies has been found to have and unbalanced translocation.

Reduction in Pregnancy Losses
The PGD procedure significantly reduces the chance of pregnancy loss. The patients who achieved pregnancy after PGD had experienced miscarriage in the majority (~85%) of their previous pregnancies. When these same patients underwent PGD, just fewer than 10% of pregnancies were miscarried. This is a significant reduction in pregnancy losses.

So that's where we're at.

On the plus side, we have an answer. We finally know the reason this has been happening to us. It is concrete and there is a potential workaround. I also have found some peace about the previous miscarriages: those poor babies had severe defects. It was not my immune system attacking them, as I had feared. I now know they died because they weren't growing properly, which comforts me somewhat.

I also am overwhelmed with relief that the problem is on my end instead of my husband's. I have puzzled people with that statement before, but I love my husband so much that I would rather bear the burden of being the "cause" of our problems than to watch him have to live with the guilt I am certain he would feel. I know I would not love him one tiny bit less if he had been the mutant, but he is the type of person would've been disappointed in himself, and I am glad to spare him that feeling. I also know, because he told me, that he wouldn't trade me for a non-mutant wife, and I believe him.

Plus he gets to tease me about being an X-man; he begged me not to take side with Magneto against normal humans like him. Heh.

So I'm afraid my experience is no longer very applicable to others who are struggling to have a baby or losing the ones they do have. Unless you too fit the 0.16% like I do -- and why do I keep giggling, imagining onlookers muttering "Freak!" like on Deuce Bigalow? -- your journey won't end up like mine, being forced to cherry-pick embryos from amongst the FAIL ones to create a frankenbaby. But hopefully my experiences and writing will still bring people some bit of knowledge or empathy.

So that's my story. Snickety snickety.

For further reading, see:
Balanced Translocation and Recurrent Miscarriages
Handbook of Genetic Counseling/Balanced Translocation
Preimplantation Genetic Diagnosis (PGD) for Translocations

I also have decided that I need a blog category for infertility. No one sets out on this journey to need that kind of label, but that's where I'm at, and for a while now I have felt that filing these posts under 'personal' just isn't cutting it anymore. I plan to comb through 2+ years of posts and re-categorize them.

P.S. I feel pretty OK today, and I am going to get loads of mileage out of calling myself a mutant. I am happy to have an answer and ready to see what we might learn in the next phase. So no need to worry.

Posted by Sarah at 03:04 PM | Comments (1874) | TrackBack