Archive | August 2013

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.

18 Things I Wish I’d Known Before My Miscarriage

[Warning: Graphic Content]

The double pink lines have appeared three times for me over the last two years. First, the unborn baby died at 9 weeks and I miscarried at 12 weeks; second, the fetus lasted a few days after an IVF cycle; and third, I miscarried at 6 weeks.

Despite being an intelligent, well-educated person, I felt bewildered at what my body was doing. Doctors and nurses were strangely mute. Friends almost never volunteered information, and when they did, they were vague. Women of my mother’s generation thought it was “unseemly” for a lady to talk of such things, preferring to feign ignorance. In desperation, I scoured the internet for information, invariably finding some online forum that would simultaneously encourage and terrify me.

There are a lot of things I wish I’d known before my first miscarriage. Here are a few.

1. Of the women who spot in their first trimester, 1/2 will go on to have a normal pregnancy. However, with a chromosomal disorder and/or recurrent miscarriages, the odds of that spotting being normal aren’t good.

2. Bright red spotting (other than implantation bleeding) is a warning signal and should always be reported to the doctor. Remember, though, that there’s rarely anything the doctor can do. Brown blood usually seems OK as long as it doesn’t turn red.

3. The time between the fetus’s death and a natural delivery varies dramatically from person to person and from pregnancy to pregnancy. I’ve heard everything from a day to 6 weeks. Sometimes the body won’t ever deliver naturally (or completely) and a D&C is required.

4. Your water will probably break. In my 9-week (12-week?) miscarriage, my water broke before the cramps started. In my 6-week miscarriage, the cramps came first and my water broke a few minutes before the fetus came out. In my 4-week, I didn’t see water but it could have been hidden by blood.

5. The miscarriage will probably take 3-4 hours. Start timing it when your water breaks or the cramps start, whichever comes first.

6. The cramps get closer together as you approach delivery. When they’re down to 1 minute apart, you’re getting very close.

7. “Pushing” with the contractions can lessen the pain and speed up the process. I waited to push until the contractions were less than a minute apart.

8. The pain is bearable. I didn’t take any pain reliever like aspirin or ibuprofen because I didn’t want to thin my blood when I was bleeding. Tylenol or Percocet might help if the cramps are really bad.

9. The bleeding is the color, but not the texture, of menstrual blood. It’s stickier, clots more and looks shiny and gelatinous.

10. The bleeding will be heavy until you deliver the fetus and endometrial tissue; then it will pretty much stop suddenly. You’ll continue to spot lightly with occasional clots for several more days. If you’re still bleeding heavily, you might not have finished clearing everything out of the uterus.

11. Your body will continue to produce HCG until your uterus is clear. This is why the doctors will make you keep coming in for blood tests. If you don’t clear everything, your HCG may not zero out, it may temporarily affect your fertility, and you’ll be at risk for infection.

12. The fetus and placenta/endometrium will probably come out separately.

My experience:

9 (12?) weeks: 2 lime-sized clumps 10 minutes apart, accompanied by large clots.
6 weeks: one walnut-sized clump and then several grape-sized gelatinous clots a few days later.
4 weeks: one tablespoon-sized clump that was harder than the rest, followed by a regular period. (The doc said that was the endometrium, not a baby or sac.)

I welcome descriptions of the size and/or appearance of your natural miscarriage in the comments section. It would be nice to fill in some of the timeline gaps.

The one thing I have not included in this list is whether or not you’ll be able to see or any baby features. Personally, I did not. I tend to think that generally you can’t distinguish anything unless you’re pretty far along in the pregnancy, and at that point you’d have a D&C instead. I welcome comments on this, too.

13. Have a plan for the fetus. Your plan could be wrapping it in a towel and putting it in the trash; flushing it down the toilet; finding a place to bury it and saying a prayer; or bringing it in to the doctor for testing. It doesn’t matter what the plan is, but it is helpful to think about it now. Examine your spirituality and do what feels right.

14. Emotional support from a friend is indispensable. You may or may not find the specific miscarriage support you need from your significant other; that is OK. (See #15.) But recruit someone you trust to help you through this.  Knowing that someone is thinking of you is amazingly helpful, even if they’re not there.

15. Don’t expect your significant other to have the same emotional reaction as you. Everyone processes their feelings in different ways and different times, especially in the opposite genders. This is happening to YOUR body, and YOU feel the physical pain, so it only stands to reason that YOU will feel this loss the most strongly and immediately.

16. For early miscarriages, don’t let the label of “chemical pregnancy” make you feel like you weren’t really pregnant. The embryo was there and it implanted.

17. The emotional pain will lessen over time. The grief comes in waves. In my case, I suddenly sobbed when I watched a little girl get on a school bus; when I heard a 41-week-pregnant woman wanting to “get this baby OUT;” when I learned that my two closest co-workers were due at the same time; and often without any specific provocation at all.

18. Hope is not lost. Most women will go on to conceive again with a normal pregnancy.

So this is what it’s like to have a miscarriage

[Warning: Graphic Content]

Recap: Two years ago, my unborn baby died at 9 weeks. For three more weeks I unknowingly carried it, bonding with it hardcore.

I want to describe my miscarriage in detail because I couldn’t find a single real account to help me through mine.

If you’re reading this because you’re about to have a miscarriage: Don’t be afraid. The physical pain is finite and the emotional pain will lessen over time.


Overall timeline: Tuesday night I started spotting. Thursday I had the fateful ultrasound check. Friday night I miscarried, which took 3-4 hours.

On Friday around dinnertime, I had just paid the pizza deliveryman and closed the front door when I suddenly felt liquid gushing down the inside of my yoga pants. (I think “miscarriage pants” every time I wear them now.) The liquid was watery with blood in it, and it made small pools at my feet. I guess that was my water breaking.

Why didn’t anyone tell me I had water to break?

My friend Claire was supposed to come over in a few minutes for chick flicks, so I unlocked the door, sent her a text warning her of the blood pools by the door, and went upstairs to sit on the toilet.

I don’t know if it was a physical thing or just my anxiety, but sitting upright made me feel like I was going to pass out and/or vomit. The bleeding was heavy now, and the volume of blood was very alarming to me. I wanted to keep sitting on the toilet to minimize the mess, but I just couldn’t handle it. Claire arrived at this point and put down a bunch of towels to lay on. I hated that she saw me like this, with my pants down, bleeding and miserable, but the miraculous thing is…. she’s a doctor. She’s seen everything, and at the risk of sounding melodramatic, I knew I wouldn’t die with her there. Occasionally she’d check my pulse, but I’m pretty sure that was just to ease my panic.

The OB told me the cramps would feel like a bad period. Nope. My menstrual cramps are on either side of my belly; they’re low grade with sharp pains once or twice a month that double me over for maybe 5 seconds.

These cramps, on the other hand, feel more widespread and a little sickening. They’re less sharp but more intense and longer. They come in waves, most noticeably recruiting the lower front part of my uterus. (I was told second-hand by a woman who’s both miscarried and given birth that these cramps are just like mild birthing contractions.)

[I wish I’d made the connection that I should push with the cramps. I didn’t do anything except lie there. As I discovered with my miscarriage last week, pushing lessens the pain and speeds things up.]

Kyle got home from work and joined the party. He stayed on the periphery because he could see that Claire, as both my girlfriend and my doctor, had things under control. I had worried about him because he was generally squeamish with blood, but he was a total champ.

[On a side note, while I was definitely light-headed and nauseous, I wasn’t entirely helpless. Physically, I could’ve done it alone. Emotionally, though, I needed the support. I knew that the cramps weren’t all that terrible, but each one was a reminder that the pregnancy hadn’t turned out like I’d wanted.]

Claire and Kyle parked on the bathroom floor with me, keeping me company, chatting with each other a little. Then, to my surprise, my cat came in and purposefully laid down by my head, practically sitting on my face. We all knew he wanted to comfort me. Cats are amazing.

3-ish hours after my water broke, my body sort of heaved and expelled a mass. (It didn’t hurt.) A couple seconds later I retched. The mass slipped out easily with a little gush. Claire said, “It’s done,” and before I knew it, she had rolled it up in a towel and taken it away. I was kind of glad that I didn’t have to look at it, because I was too afraid of what I might see.

After that, the cramps stopped and the bleeding let up a lot. We all thought it was done, so Claire and Kyle cleaned up around me and left me alone so I could shower in privacy. When I stood up, the bleeding picked up again and I felt like there might be more coming, so I sat back down on the toilet. Just a few seconds later I passed a second mass.

This time I wasn’t afraid to inspect it, but I don’t remember exactly how I kept it from going into the toilet. I might have actually caught it with my hand. It was a very dark opaque red and about the size and shape of a lime. I certainly couldn’t see any detail within the mass. I looked at it for a while, and then I didn’t know what to do with it, so I flushed it down the toilet. I think the first mass was probably the fetus and sac, and the second was the placenta/endometrium tissue; or maybe the fetus and sac got separated, I don’t know.

Now I kind of regret letting Claire take and throw away the first part that passed, and me flushing the other, but I still can’t imagine what I would’ve done instead. Maybe I could’ve rolled it all up in a towel and buried it, but we didn’t know where to do that.

What I do know is that I cried heartily when the trash truck came the next week. My baby deserves more than going out with the trash, I thought. I imagined it ending up in a landfill somewhere with horrible smelly things. My baby was robbed of a wonderful life.

Devastated and Terrified

[Warning: Graphic Content]

The OB nurse told me that the spotting was probably just the hematoma they’d seen on the 8-week ultrasound but to come in for another ultrasound if the bleeding hadn’t stopped in 24 hours.

Meanwhile, I got a voice mail message from the administrative staff at the OB’s office. Your blood work came back showing you are a carrier for Fragile X, she said. Yes, I remember noting that the vampires had taken a million (okay, twelve) vials of blood at my last visit. We set up a meeting for you next Monday with a genetic counselor.

There was a pause and then, We advise you to stay off the internet.

Naturally, I looked it up on the internet. (Wouldn’t you?) I’d never even heard of Fragile X. And as I read, a bit of panic flashed across my heart: Fragile X, the #1 inherited cause of mental retardation… 50% chance of passing on the affected gene… my baby could be retarded.

Still spotting and therefore back at the OB’s on Thursday, the ultrasound tech unceremoniously stuck in the vaginal probe and fished around in there for a long time without saying anything. I knew something was wrong from the way she kept her face completely expressionless. Finally she said, I’m so sorry, but I can’t find a heartbeat.

It hit me quickly. As I cried, the tech continued to take measurements with the vaginal probe. Kyle sat in the corner in shock. The tech finally finished clicking away on the computer and had to ask me to unclench my vagina so she could pull out the wand.

(As an aside, those vaginal ultrasound wands are just awful. They’re basically hard plastic dildos that they lube up with that ultrasound goop, which makes them cold. You’re completely at the mercy of the tech and it really matters how well he/she wields the wand. More on that topic in a future post.)

They let us sit in the room by ourselves for a long time- much too long- and then the OB came in to discuss our options.

At this 12 week ultrasound, she said, the baby had measured 8 weeks 6 days, but the sac had measured smaller, something like 7 weeks. (Looking back, I wonder why no one thought to say anything about the 7-week sac at our 8 week ultrasound. Did they not notice?) They called it a spontaneous abortion or a missed miscarriage. I called it carrying our dead baby in my uterus for 3 weeks.

Because the baby was 9-week size, the OB gave me three options. I could “pass” the baby naturally at home; I could have a D&C (which is minor surgery to clear out the uterus); or I could take some medication to help speed up the natural expulsion of tissue. She gave me absolutely no description of what it would be like to “pass” the baby myself, and I didn’t think to ask because I was still in shock. She just said she recommended the natural route when the baby’s this small. Any D&C carries some risk of injury, albeit small, from the sharp instruments being used to poke around and scrape in there. A wayward pointy thing could puncture the uterus or bladder, resulting in scar tissue or something worse. The speed-up medicine does make you pass the tissue sooner but actually prolongs the pain.

At home I set about informing the myriads of people with whom we’d prematurely shared our good news. I could really only manage text messages and short emails like, Baby’s gone.

Once that was done, the terror set in. What would my miscarriage feel like? How soon would it happen? How much pain would I be in? How much bleeding would there be? How long would it last? How would I know if I was losing too much blood and should go to the ER? And most terrifying of all… what would the tissue look like?

Finding answers to these questions was extremely difficult. The internet was terribly unhelpful and even detrimental. There were so many horrible pictures and descriptions out there, many of which were obviously scare tactics by anti-abortionists trying to deter all those would-be baby killers out there. Like I have any fucking control over this. My What to Expect When You’re Expecting book had a short, pitifully uninformative chapter on the subject. I could find no blow-by-blow accounts of a miscarriage. Come to think of it, my mother didn’t even offer to tell me about hers.

Thank God I had my friend Lena, who’d had two natural miscarriages by now and was able and willing to describe everything to me in great detail. I’m so grateful to her for giving me much of the information I needed. She was so responsive and could communicate using the only medium I could handle, which at that time was Facebook messaging.

I canceled all my work for the next few days, claiming a “family emergency,” which wasn’t a lie. Then I sat at home, waiting.

The waiting felt so interminable that we actually went back to the OB on Friday morning begging for the medication to speed things up. (Throughout my long fertility journey, I’ve discovered that anticipation is what makes me the craziest.) The OB took a look and said that it looked like my body was trying to complete the process and she didn’t think the medication would really benefit me at this point in time. We set up a D&C for Monday in case it hadn’t happened by then. Really? Monday? I might have to wait THREE DAYS for something to happen?!

Back at home, I parked myself on the recliner, trying to distract myself with Netflix while I kept waiting.

I received two sympathy flower bouquets, which were brought to my door by a cheery, well-meaning deliveryman. The flowers made me realize that this wasn’t just a miscarriage to me; it was a death in the family.

“There’s Really A Baby In There!” (For Now)

Let’s back up now to the very beginning of my fertility journey. In the fall of 2009, I married the man of my dreams. Marrying Kyle is the best decision I’ve ever made in my whole life, despite what my crazy parents still think.

We told ourselves that we would simply be married for a year before we started a family. We listened to our cousin Catherine who told us that it would be difficult enough just getting used to living with each other in the first year. Your marriage needs to be strong first, she said, and after all, you have plenty of time to have babies.

Plenty of time. I hate that phrase. It’s similar to You’re young. That kind of s**t is both patronizing and in most cases completely wrong. Telling me I’m young and I have plenty of time is meaningless when I have one ovary full of sh**ty eggs and another ovary that gave up the ghost on IVF #3.

But I digress.

On our one-year anniversary, Kyle and I went out to dinner and shyly brought up the baby-making topic. We realized that we had both been ready to start a family long before the year was up. We went home and started trying immediately.

That month, the very first time I ovulated, I got pregnant. Kyle didn’t believe me at first because the home pregnancy test was one of those First Response ones with the super-faint pink lines. I knew it was right, though, and I figured he’d believe me soon enough. Two days later I took a second test and that double pink line practically jumped off the stick the instant it got wet.

I bought What To Expect When You’re Expecting, Kyle bought a baby brain development book, and we read them in bed together every night before we went to sleep. I joined a September Due Date forum and signed up for an online baby newsletter that told me my baby was the size of a kidney bean. I started making lists of potential baby names.

At 8 weeks we had our first ultrasound appointment and we saw our little baby’s heart beating on the monitor. I remember saying, “There’s really a baby in there!”

Kyle immediately forgot that we weren’t supposed to officially announce the news until the end of the first trimester, so in the car after our appointment, he called all 8 of his immediate family members. Then he went back to work and told everyone there. Meanwhile I went straight to lunch with a good friend who oohed and aahed over my ultrasound pics. A week or so later we had my parents over for lunch and gave them mugs declaring them “Best Grandma” and “Best Grandpa.” My dad figured it out before he even saw what the mug said, but my mom’s reaction was priceless. She stared at it for a moment, her wheels turning, and then her jaw dropped and her eyes widened. For a split second I thought she might faint.

My mom and I had some good times swapping pregnancy stories. I’d experience some pregnancy symptom and I’d call her up to ask if she’d had the same thing. It was fun to have something to talk about again. Our relationship had been strained since I married Kyle.

My morning sickness was debilitating; I hadn’t heard of the anti-nausea medications like the ones Princess Kate took. I spent a lot of time in bed. Kyle eventually got irritated that he had to do so many of the household chores; ooh, poor husband. Not exactly a perfect spouse moment.

At 12 weeks I figured I was almost at the 13-week first trimester mark, so I told a few friends at a party. I also felt it was important to break the news to my friend Lena, who had been struggling with infertility for 3 years. She was happy for me but later admitted that she had hung up the phone and cried.

The very next day I started spotting, signaling the beginning of the end for me.

And here I sit in the highway rest area, having a miscarriage.

[Warning: Graphic Content]

This isn’t my first miscarriage.

Over the last few days I recognized a new kind of spotting that warned me a loss was imminent. It was dark brown and thick on the panty liner but red when I wiped, gradually becoming more mucousy and stringy, with a few small, dry clots that made me think of Knox Blocks. It was the Knox Blocks that really clued me in.  Even before that, I’d been suspicious of my slight but continuous, faintly brownish-yellow, applesauce-textured discharge that I had, at one point, associated with pregnancy tissue.

Sigh.

I knew that a miscarriage at 6 weeks would be uncomfortable but not impossible to deal with on my own, wherever I might be.

So I prepared.

I left for work wearing an overnight maxi, throwing a second maxi and a full-on diaper in my bag for later.  As I left work, I could feel that it was going to happen soon, so I put both the maxi and the diaper on before I got in the car for my 1.5 hour trip home.

A half hour into the ride, I started timing my cramps.  They were ten minutes apart.  After forty minutes or so, that time had shrunk to 1 minute and they were getting more intense. At some point I could tell that whatever was left in my uterus had “dropped” so it was resting on my cervix; that’s usually the last thing that happens before the tissue is finally expelled.  About five minutes later I was turning off to the rest area because the cramps were practically continuous.

And now here I am.  Now that I’m parked in a spot far enough away from the drive-thru lane, I recline in the driver’s seat and “push” with the cramps just like every woman who pretends to give birth on TV.

Except I’m not giving birth.

I’m not even pretending to give birth.

Instead, I’m passing watery blood that spills out of my diaper, soaking my pants and staining the car seats.  I know I’m finally getting somewhere when I feel large clots pass through.  It seems as though there are three waves of expulsion.  I push more but I only manage to pee.

Luckily at this point the cramps have tapered off and I know it’s done.  It’s amazing how quickly I feel normal again after I’ve passed the big stuff.

That’s when I start sobbing. Deep, belly sobs.

The grieving kind. Not the teenaged break-up kind.

After an hour’s rest in the car, the pain and crying have calmed enough that I feel ready to continue on my drive home.

But first, I need food.  It feels totally wrong, but I am going to get food at the drive-thru.

“Yes, I just had a miscarriage in your parking lot.  May I have a burger, please?”