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 10:04 AM | Comments (10) | Add Comment
Post contains 1241 words, total size 8 kb.

1 I am relieved. It's not over yet, but that's a good thing. My worst fear was that you'd find out there was no possible workaround and that your journey had come to an abrupt and sad end today. However, I will continue to worry about you, for there are no guarantees. And I still hope for the best. You're far from alone. One out of 625 translates to roughly 480,000 Americans - or almost 11 million worldwide! How many others are going through this - or worse - not even knowing why? Granted, many of those millions are not of reproductive age, but still ... On the lighter side - amazing there is one at all - now I can say I know an X-Man! The world needs more X-Men to save it from the humans.

Posted by: Amritas at April 21, 2009 10:27 AM (+nV09)

2 Wow. I'm SO sorry to hear that; and I'm SO glad for you, that you have an ANSWER. FINALLY. Even though the answer totally stinks. Wow. And yes, on a lighter note, being an X-Man makes it that much more obvious that you're here to do wonderful things... {:-) Best wishes for future successful plans!!! *hugs*

Posted by: kannie at April 21, 2009 12:10 PM (iT8dn)

3 I have tears in my eyes. Happy tears. At last you have a reason. At last you know what your options are. What a relief. Now on to some more work on the problems. Maybe it can be fixed, maybe it can't BUT YOU KNOW the problem.I'm sure you aren't that unique (not a put down) you are just one who has been tested. And while it doesn't take away the hopes and dreams you had for those lost babies you know now they were never really to be, that nothing you did or could do would have made a difference. Hmm... my son worked with Chris Carter when he produced the X-files but I never knew any X-men or women. ;D

Posted by: Ruth H at April 21, 2009 12:16 PM (Y4oAO)

4 I have to agree with Kannie on the "Wow". Yay for finally having a real answer, even if it's not even close to a simple fix. And major kudos to you for being so strong in the face of all this. Best wishes in whatever course you decide to take from here. *Hugs*

Posted by: Leofwende at April 21, 2009 04:24 PM (28CBm)

5 I'm so glad you have an answer, and that the answer has been a little bit of a comfort to you. I will continue to think good thoughts and cheer on whatever path you decide to take. *hugs*

Posted by: FbL at April 21, 2009 09:04 PM (HwqvF)

6 I agree - at least you know what the issue is now. And more importantly, you know what course of action to take from here. You have a next step, instead of just what looks like another dead end. Here's hoping that everything works out.

Posted by: TW at April 21, 2009 09:07 PM (qWzEG)

7 Hmm. If I understand this right, then, the majority of the eggs you have left will still have an abnormality, being haploid, the affected chromosomes will have a corrupted gene sequence no matter how they were divided. Depending on how the genes were mapped originally at your conception, maybe one in four ova will good to go? You just have to find them. With PGD to screen, those are good odds.

Posted by: deskmerc at April 21, 2009 09:52 PM (pYOXQ)

8 Wow. I'm speechless.

Posted by: Erin at April 22, 2009 04:13 AM (avdYy)

9 *hugs* I'm glad you finally have some answers. Whatever the path you choose, we're always thinking of you & sending many happy thoughts your way!

Posted by: Penny at April 22, 2009 04:53 PM (QMEWg)

10 Only thing I know to say is that you've still got lots of good thoughts and well-wishes coming from me. I'm glad you have an answer and whatever path you choose in bringing Baby Grok to your family you won't regret. I can't wait to read your blog post the first time you're awaken at 3 a.m. with "MOM. Come here. My damn nose is bleeding again." and BG is 4.

Posted by: Susan at April 23, 2009 05:13 AM (4aKG6)

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