Tag Archive | PGD

Schrodinger’s Baby Is Dead

Today’s ultrasound should’ve shown an 8 week baby with a heartbeat.  Instead, we saw a 7.5 week baby with no heartbeat.  Schrodinger’s baby is dead.

Before the appointment, we had been so careful to guard our emotions, but in the exam room, K couldn’t hide his excitement.  Seeing him like that made me want to shield him from experiencing any pain or sadness.  I, on the other hand, was expecting the worst.  When the scan started, we could both tell right away that there was no heartbeat.

This sad news comes right on the heels of AMAZING news we got this week.  According to a brand new Fragile X blood test by Assuragen, the risk of my specific Fragile X Premutation expanding into a Full Mutation is LESS THAN 1%!  This makes us feel a whole lot better about conceiving naturally, because now our chances of needing to terminate for full-blown Fragile X are very minimal.  If we’d known, we wouldn’t have bothered with PGD.

Unfortunately, this wonderful genetic news unearths new questions about why the frackety fracking frack I’ve had 3 pregnancy losses.  If not Fragile X, then what?  Well, today our RE reminded us that Fragile X prematurely depletes a Carrier’s ovarian reserve, so my eggs are crap.  “Your healthy 36-year-old body has the eggs of a 43-year-old,” she said.  My decrepit ovaries are probably producing embryos with a host of OTHER chromosomal/developmental problems besides Fragile X.

We have a D&E scheduled for tomorrow.  They will test the baby for chromosomal abnormalities.  Meanwhile, I have to hold it together for a quartet concert tonight (“the show must go on”).  Thank you so much, dear readers, for your support.  ❤

In(not-so-sure)ance

(I’m in the 2ww again. My OPK showed ovulation a couple days earlier than expected. Maybe it’s because AF started so late last month? I wouldn’t know since a late AF is so rare for me. At any rate, we had sex 5 times in the 6 days surrounding ovulation…. that *should* do the trick, right?)

Here’s another installment of our fertility story. Last I wrote, we had finally gotten the DNA samples together to start the process of PGD, which is how our embryos would be tested for Fragile X.

Our next hurdle: Insurance!

We’re fortunate to live in a state where fertility treatments are covered by insurance, but they certainly don’t make it easy. Before the RE could submit the claim, we had to enroll with the Infertility Hotline. The phone rep listened to my sob story, looked at my poor hormone test results, declared me to be eligible for benefits and then spent 30 minutes enrolling me in the fertility program.

We celebrated that IVF was covered, yay!

Then PGD was officially approved, yay! Here’s how the PGD claims process was explained:

1) Pay $3850 out-of-pocket directly to the genetics lab for PGD
2) Wait 4 months while the DNA samples are grown and analyzed
3) Complete IVF egg retrieval, fertilization and PGD testing
4) Submit claim for reimbursement with the necessary “Date of Service”
5) Receive check.

If you’re thinking that’s a shady way to do business, you’re right. After we completed steps 1 & 2, our IVF claim was denied. Why? Because we weren’t considered “infertile.” And if we were, we’d be required to do IUI’s first. Try doing PGD on that.

Never mind the chunk of change and 4 months time lost. We were staring down the barrel of about $20K for a single cycle of IVF. What’s more, our RE wasn’t even sure that my Fragile-X-Carrier ovaries would even respond to the hormones; often they don’t.

So I wrote an appeal letter. It had four main components:

1) You already approved PGD, which is impossible without IVF
2) Our IVF claim isn’t for infertility; it’s for PGD
3) IVF with PGD will be much cheaper in the long run than caring for a special needs child
4) Denying this claim feels like an insurance loophole.

My therapist told me to use #4 because it hints at trouble that the company would want to avoid.

Surprisingly, we got a reversal of our denial within two days!

Fast forward a couple months. After completing our first IVF cycle with PGD, we submitted our PGD reimbursement claim. Guess what? DENIED! Because we didn’t use the exact genetics lab they *claim* they specified.

One day I’ll get around to appealing that….

On The Back Burner

Last night my friend Claire and I attended our friend’s performance of the Mozart Requiem. It was odd being an audience member, coat-checking my viola rather than unpacking in the green room. We settled in our seats and began searching the stage for any musicians we knew.

Suddenly my heart leapt into my throat because there in the chorus was the man I almost married before I met Kyle. It had been almost 5 years since I’d seen Jim, right after Kyle and I got engaged. Jim had congratulated me with a wistful look in his eye. I could almost hear him saying, It should have been us.

The backstory: It was that wonderful time between finals and college graduation, when the weather is gorgeous and there’s nothing to do but savor the time you have left with your friends. Jim and I went on two dates and it was kismet; the sun burst with brightness and the stars glittered in the night. I’ve still never felt such euphoric highs in my life. Two weeks later he proposed. He didn’t have a ring and he was so casual that I didn’t believe him at first. My spontaneous, passionate, free-spirited side was swept away and wanted so badly to run away with him, but my brain understandably needed more time. I was afraid that someone who falls in love so fast and hard would fall out of love just as fast and hard. When I asked Jim if we could take the proposal off the table so we could date without pressure, he said no, he’d only “put it on the back burner.” There were other red flags: he’d gotten his roommate pregnant but wouldn’t admit it to me; his finances were in chaos; he loved to argue about everything. I knew deep down he was bad news. Despite my fervent feelings for him, I reluctantly cut him loose.

Five years later we ran into each other again. Surprisingly, our feelings for each other hadn’t changed and he’d matured in many ways. It seemed that the universe had thrown us back together for a reason. But sadly, I wound up breaking his heart a second time. I wondered for years if I’d made the right decision. Only now do I know how to articulate it: I loved our passion for life and each other, but I didn’t trust Jim to take care of me.

During the concert, after my heart calmed down, I contemplated life if I’d married Jim instead of Kyle. With Jim, life would be one long roller coaster with endless metaphysical conversation, intense arguments, and explosive make-up sex. We would’ve moved from place to place to chase the next adventure, living paycheck-to-paycheck and sometimes not paying our bills. There is no way we could’ve afforded IVF, even if we had health insurance.

With Kyle, my life is smooth; our conversations are down-to-earth, our sex is yummy vanilla, we’ve lived in the same place since we got married, and our income is steady thanks to his excellent job. We’ve done four rounds of IVF with PGD to combat this Fragile X thing. But most importantly, I am happy. He is happy. Even when we’re sad, we’re happy.

But there is one fundamental part of my personality that Jim brought out in me that Kyle doesn’t: passion. Passion for life, passion for music, sexual passion, passion for the beauty of the earth, passion for thought-provoking conversation. Kyle never inhibits me from being passionate, but he doesn’t exactly inspire me, either. He works hard and plays hard but doesn’t dream the same way I do.

What happened to those passionate dreams I had when I graduated from college? And why have I fallen out of practice in my dreaming recently? It’s not really because of any dynamic with Kyle. No, it’s because we’ve spent the last three years failing to have a child. It has consumed my thoughts and drained my energy. My dreams, to use Jim’s words, were put “on the back burner.”

This is your wake-up call, Haven. You are more than a wannabe mom. You have dreams and goals of your own that have nothing to do with babies. It’s time to tap into your passion and live your life the way you’ve always wanted to.

Starting PGD

Being back in the dreaded Two Week Wait, I thought I’d continue the narrative of my 3 year fertility journey so far.

When last I wrote, I was extolling the virtues of my RE, who persuaded my uber-religious parents to submit their DNA so Kyle and I could do PGD for Fragile X.

To start the process of PGD, my parents + Kyle and I were asked for DNA in two forms: a cheek swab and a blood test.

The cheek swabs were sent to a lab in Michigan for a FOUR MONTH analysis (more waiting! yay!) that resulted in a “probe,” which to the best of my knowledge is a detailed map of certain sections of the X chromosome. The scientists find the FMR1 gene and then record the bigger genetic markers nearby. When the embryos’ DNA samples arrive for comparison, those bigger genetic markers are much easier to spot. I wish I knew more, but this technology is so specialized (and new, 2008) that my doctors don’t really know, either.

The blood test tells us which parent is the Fragile X carrier, how bad their mutation is, and how its severity changed between generations so the lab can extrapolate how it might appear in our kids.

The doctors assumed Mom was the carrier because that’s the way X-linked genetic things usually work, and because:

1) Males are rarely just carriers; they often show signs of Fragile X because they have no 2nd X chromosome to fall back on
2) She had two miscarriages, a common plight for carriers (I remember being at the hospital for one of her D&C’s)
3) She had a cousin who was mentally retarded, indicating potential family history
4) If you can follow me for a sec here, I’m my mom’s only daughter and she was her mom’s only daughter, so if the Fragile X gene were passed down maternally, it makes sense that my mother’s cousin would have it but none of my first cousins would.

A week or so after everyone’s DNA was in, our RE called. “You’re not going to believe this,” she said. “The blood tests came back. It’s your dad!”

It is truly poetic that my dad, who was most against PGD/IVF, wound up being the Fragile X source. After the hair-raising phone call Dr. Avery had with my parents, she was a little entertained, too.

However, I’m glad we didn’t know sooner because things might have turned out differently. In addition to Dr. Avery’s persuasion, I also wonder if Mom quietly begged Dad to cooperate because she felt it was her “fault.” I don’t know if Dad would’ve reached that point on his own, and Mom wouldn’t have had quite the same power.*

Dad’s reaction to the news was, “Well, Mom will be relieved that it’s not her.” And since then, he’s bounced back and forth between apologizing for “giving me bad genes” and giving me his unsolicited adoption research. He also worries that every little shake in his hand is the onset of Fragile X tremor ataxia syndrome, which can appear in male carriers over 50. There’s no doubt he is rattled like the rest of us.

*Speaking up would be a departure for my mother because my parents’ interpersonal dynamic is typical of the strong religious model. Dad Knows Best and Mom spends a lot of energy trying not to rock the boat. Because of that, Mom has developed an annoying habit (ok, “coping mechanism”) of NEVER EXPRESSING HER OWN OPINIONS. She mirrors whom she’s with at the moment. At heart I suspect she is liberal, but she has heard my father’s fervent opinions about homosexuality, abortion, and premarital sex so often that she thinks they’re her own. (On a side note, isn’t it interesting that all of Dad’s hot-button issues revolve around sex? Hmm.)

Finding my inner manipulator and using it for good: Acquiring DNA samples for PGD

My parents raised me in an extreme Christian group that many considered to be a cult. It had loads of rules and expectations, and if you didn’t adhere to them, at best you should feel guilty and at worst you might be ex-communicated. Suffice it to say my parents liberally manipulated me at home with judgement, guilt and passive-aggressiveness. Most notably, my father still uses “God-speak,” which is my own term for when he says “it’s not MY opinion, it’s GOD’s,” when it is, in fact, my father’s opinion.

In many ways, I don’t blame my father for using God-speak. It’s really tough to separate your own beliefs from the beliefs of your religion, especially when the beliefs are emotional. Plus, playing the God card pretty much guarantees victory in any argument. If you’re not ready to whip out the Bible and turn right to the scripture you’re using as a counter-argument, you might as well just shut up. Which is what I do.

So when Kyle and I decided that IVF with PGD made the most sense to us, we knew we probably wouldn’t be winning my parents over. We hoped that when they were bouncing their grandbaby on their knees, they’d forget about the “unnatural” way he or she was conceived.

And then the PGD lab called. Unlike regular PGD, testing for Fragile X required more DNA than just mine and Kyle’s. They also needed DNA from an affected member of the Carrier’s family. I’m an only child and my grandparents are gone, so my parents would have to agree to give a blood sample and a cheek swab.

Well, s***.

S***, s***, s***. Of all the f***ing injustices. Our reproductive future was in the hands of people who thought God was frowning upon us. I felt so badly for Kyle; his dream was to have a family, and he married the one woman whose parents wouldn’t let him. Don’t get me started on the guilt I feel about being a Fragile X Carrier.

That summer I brainstormed so many different ways of getting their cooperation. I tried leveraging the HIPAA privacy laws so my parents wouldn’t know exactly what their DNA was being used for, but the genetic counselor felt uncomfortable with that and my parents are too perceptive anyway. Kyle wanted to steal hair from their hairbrushes (that was before we knew we also needed a blood sample). (He joked about drugging my parents, too. If we could’ve gotten away with it, I would’ve done it!) The genetic counselor offered to meet with my parents herself, but I knew she wouldn’t try to hide what’s done with the unused embryos, etc.

I finally accepted that we’d just have to come clean and beg them.

Then it was all about how to approach them. I wrote out pages of potential speeches. Kyle offered to do the talking, but he didn’t know the hot-button words to avoid, so I forbade him.

The anxiety was paralyzing. I finally went to my primary care doctor, who diagnosed Social Phobia/Social Anxiety Disorder. At the time, the description of SAD felt right, and now it’s almost uncanny. The Doc started me on Wellbutrin every day (which would help for both my anxiety and my depression) and Ativan as needed. She told me to take an Ativan right before I talked to my parents.

The route I eventually took was suggested by my therapist. She suggested that I turn my parents’ passive-aggression back on them. In everyday life, I was actively trying to eradicate my passive aggressive behavior, but she said that in this situation, it was necessary to speak their own language. I would effectively be manipulating them the same way they manipulate me.

So I took my Ativan and called them. I explained that they really should know which one of them was the carrier because of certain health concerns for them. I stressed their responsibility to get tested so we could inform other family members who might also be affected. I said this was the only way that Kyle and I could ever have biological children. Waah, waah, it’s up to you, and we’ll just be over here in the corner, alone, in the dark…

After I made my pitch, my parents’s stunned (and stunning) reply was, “OK.” And thus began the next chapter in our fertility journey.

———
P.S. I can’t tell you how nervous it makes me to have new blog followers who proclaim their Christianity or right-to-life beliefs. I’m trying not to censor myself, but it’s hard. I fear retribution. Everyone, please read my words with kindness.

The Struggle to Find Support, Part 2: Online Forums

As a Fragile X carrier, I find it difficult to fit in with existing support groups.

An “IVF with PGD for Fragile X” group doesn’t exist. That’s too specific, I suppose, or maybe Fragile X isn’t well-known enough yet. With Fragile X being the “#1 Cause of Inherited Mental Retardation,” it’s surprising that nobody outside of the Fragile X community has heard of it, save a few medical professionals. It’s more understandable that people wouldn’t have heard of PGD (Preimplantation Genetic Diagnosis), since that kind of testing for Fragile X has only existed since 2008, and only in a couple labs nationwide.

Miscarriage forums were helpful for a little while after my first miscarriage, but they only took me so far. As soon as Fragile X came into the picture, I felt that my trajectory took me in an entirely different direction.

IVF groups *should* have been helpful when I was going through IVF, but mostly they were just depressing and panic-inducing. They should’ve been renamed Failed IVF support groups. It was stressful for me, a desperate woman, to read about all the other desperate women on there, listing all their unsuccessful cycles, talking about their angels and sending everyone else baby dust. I was looking for a more positive, comforting group, but I can see why they don’t really exist. Either you’re on the IVF/TTC site, or you’re on the Pregnancy site; there’s no in-between.

Fragile X groups are actually the worst. They’re intended for families who already have a child with the disorder. To join the group and shout that I might terminate for medical reasons (TFMR) seems like the worst kind of insult.

A TFMR support group would probably be helpful at this point, I guess. It certainly wasn’t when I was still completely committed to IVF with PGD, thinking it would work. I’m ashamed to admit that I judged everyone in those groups. Being a Fragile X carrier has turned many of my “beliefs” and “morals” on their heads, for which I am extremely grateful.

Welcome to the world of Fragile X

“Your blood work came back showing that you’re a carrier for Fragile X. We have set up an appointment for you on Monday with a genetic counselor. We advise you to stay off the internet.”

Let’s put aside the ethics of the OB’s office leaving me a VOICE MAIL with this news.

What really bothers me is that when I miscarried, the genetic counseling appointment was immediately cancelled. Not rescheduled… cancelled! And no effort was made to impress upon me the importance of getting more information. In fact, when I asked my OB if Fragile X could have been the cause of my miscarriage, she gave me a dumb look and said she didn’t know.

Despite having read a little bit about Fragile X online, we didn’t fully understand that we had a 50% chance of passing on the gene in some form. Kyle and I had already started TTC again. It was Claire who first clued me in. She’d mentioned it to one of her med school friends, a reproductive endocrinologist, who replied, “Oh, that’s serious! She should do something about that.”

I’ll admit, I didn’t believe her at first. The OB wasn’t worried about it, so why should we be? In my head I’d worked out some sort of imaginary odds that made Fragile X similar to Down Syndrome. I wasn’t an older mother, so that kind of thing seemed like such a long shot. Thank goodness Claire kept on my case.

Dr. Avery, the wonderful RE who took us on, explained some of the stats and repercussions.

Being female, I have 2 X chromosomes. In my case, one X is healthy, and the other has one faulty gene, the FMR1 gene. (I think of it like apples… I have two great apples, but one of them has a small bruise on it.)

When the faulty gene is passed on, it will either stay the same level of faulty (like me) or get much, much worse (as in, the bruise on the apple becomes a lot more obvious and pervasive). The baby could be severely mentally retarded, or if the gene gets completely out of control, the fetus isn’t able to live. This gene is like a ticking bomb that could go off in any future generation without warning.

That was most of what Dr. Avery knew, so at this point she referred us to a genetic counselor. I’m always glad when a medical professional isn’t too proud to admit the boundaries of her knowledge. In fact, to keep this blog post from getting any drier, just google the National Fragile X Foundation if you want to read more.

From what we learned from the genetic counselor and through my own experience since then, being a carrier of Fragile X has its own complications. Luckily for me, my Fragile X gene hasn’t affected my mental acuity or my ability to function in the world. However, I have seen reproductive issues. Although I was only 33 when I first had my hormones tested, the levels looked pre-menopausal. I ovulate every month, but the egg quality is poor, resulting in recurrent miscarriage and difficulty producing strong embryos for IVF.

Our options? We were given five:

1. Continue to conceive normally and test using CVS at 10-12 weeks. Terminate the pregnancy if the fetus tests positive for Fragile X; or, prepare for a special needs child
2. Preimplantation Genetic Diagnosis (PGD). Using IVF locally and a PGD lab in Michigan, embryos are tested for the gene before they’re transferred to the uterus.
3. Donated egg
4. Embryo Adoption
5. Adoption

FML. Welcome to the world of Fragile X.