Holding Pattern

My thanks to everyone for your support and kind words and happy ending stories (they really help)!.  Special thanks to Nat for providing me the link to http://www.babysamson.com/.  I’ve been searching unsuccessfully for blogs dealing with the diagnosis of congenital heart disease.  While Samson’s diagnosis is different than ours, it was still inspiring to read, and the blog contained a treasure trove of other blogs dealing with similar issues.  (Still undercover with that due to family Googling and my need to stay stealth, but I will provide initials to the diagnosis and will fill in the details later:  Primary diagnosis is TGA, secondary is multiple VSD’s and a few others things they’re still watching.)  I learned well the power of the blogging community through my infertility travels and am grateful to have found this new source of first-hand information.

Nothing much to report on the baby front today.  We’re in a bit of a holding pattern, which neither LG nor myself excel at.  We meet with the cardiothoracic surgeons at Children’s tomorrow.  I hope they’re ready for us, because we have a long list of questions prepared.  The biggest topic of discussion for LG and myself right now is whether to obtain a second opinion.  As I’ve mentioned, we feel very confident in our doctors (which is why I’m really torn on the subject), but when it comes down to it, reading a fetal echocardiogram is “observational” (versus looking at a definitive lab number or something like that).  It’s not so much our current diagnosis that we’re looking to confirm, but more that we want to be absolutely sure there is no trace of the rhabdomyoma, which was the initial diagnosis that led us to the cardiology follow-up originally.

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In non-baby news, here’s what passes as romance in our household these days:

LG to me at a completely random point in time:  “Would you still love me if I were a lam.prey?”

For those of you (like myself) who had no idea what a lam.prey was before this post, it’s a disgusting sucking eel that looks like a slimy giant garden hose with teeth.  Why this popped into his head, I do not know.  Ah, the mysterious and magical workings of LG’s mind!

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In sort-of baby news (just not my baby), a strange thing happened last week.  As previously stated, I work in HR.  One of the least favorite parts of my job (and that’s saying a lot because there are so so many least favorite parts) is dealing with employee relations issues.  I have heard and dealt with all manner of interemployee squabbles ranging from the serious (harassment) to the dicey (body odours, etc.) to the laughably petty (chews too loudly,  looks at me funny…)  I have never – until last week – dealt with the “pregnant co-worker slacking off and I have to pick up her work” complaint until last week and then it was 2 different cases from 2 completely different locations.  The first call came in the day after we got our diagnosis, and I had spent the entire workday doing Google research, so to say it hit a bit close to home was an understatement.  The call actually came from one of the HR managers on my team who phoned me for advice.  For this first time ever, I had to deflect and very briefly explained the situation and asked her to consult with another HR VP who just happens to be one of the few senior HR folks not pregnant right now…probably because he’s a guy.   I felt lousy about that, because I felt like I wasn’t able to separate my professional and personal life…but at that moment, I wasn’t.  The 2nd complaint deals with a group of pregnant ladies who sit right outside my office whom I privately dubbed the pregnancy cabal…because they never work and chat about baby stuff all day long.  While I understand all too well how consuming this time in a woman’s life can be, I am going to have to address it because they chat all day and then tell their bosses that they have too much on their plate and its causing them stress, which means other people are having to pick up their work.  Needless to say, I am not looking forward to THAT “coaching”* conversation.

*Polite HR term for a conversation that is typically nothing more than a “knock-it-off”meeting.  Good times.

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Getting Answers

I can definitively say that this past Friday through Monday were the worst 4 days of my life.  Armed with the diagnosis of rhabdomyoma that we had been given on Friday, we hit the halls of the Google School of Medicine only to be slammed in the face by a genetic disease called Tubular Sclerosis Complex (TSC) – the cause of  50% to 80% of cardiac rhabdomyomas diagnosed in utero.  The more we read about this condition, the more our hearts fell.  Over the weekend I managed to hold onto a few talismans to convince myself that we were in the 20% to 50% who had the cardiac mass but not TSC — our doctor (who’s pretty direct) didn’t mention it, we had genetic testing done, only one mass was seen, etc.  LG – who relies much more on facts than the “glass half full” mind games I play on myself – wanted more concrete answers.  So, despite my wishes, he phoned our genetics doctor (with whom he has some weird connection…maybe it’s because they’re both super quant numbers guys?), to ask him what he knew about the condition and whether we had been tested.  We had not – it’s not tested for in a typical amnio and, in fact, can only be tested for if there is a known family history (present in about half the cases) so they know what mutation they are looking for in the genes.  With that, all of my defenses fell.  Monday was a day of grief the level of which I’ve only experienced when my father died nearly 7 years ago.

Yesterday, we went in for a repeat Level 2 ultrasound, a consult with a MFM, and, most importantly, a consult with a pediatric cardiologist along with a fetal echocardiogram.  Minutes into the exam, she told us she did not see a mass, which ruled out a diagnosis of TSC.  I cannot describe the relief I felt in  that moment.  The relief – while still very much present – diminished as the exam continued.  Our little Nugget has a collection of serious heart defects – the most severe of which will require open heart surgery within the first week of life.  I will write more about the specifics as we learn more (and after my family passes through the mad-Googling stage…while I think it’s unlikely my little blog would come up in a search, it is completely anonymous from anyone IRL, and I want to keep it that way).

We are stunned and scared but still feeling the relief that comes from knowing that this should be a fixable condition and not one that will cause lifelong systemic complications for our baby.  We feel very confident with the medical system we’ve just been catapulted into – particularly our OB (who we originally didn’t like and almost switched early on!).  LG and I have long talked about moving to a remote area where we can get some land (in the Colorado mountains if I have my way), but for now are glad to be in a major city with one of the top children’s hospitals in the country.  It happens to be near our neighborhood.  I can’t tell you how many times I’ve ridden the bus by it and wondered about the stories unfolding behind those wall.  Now, we will be one of those stories. I’m channeling all my “glass half full” mindgames to say that I think it will have a happy ending.

Reeling

So much has transpired since the last post that I’m going to bypass the dramatic arc of the genetic testing to bring things up to date.  To get caught up:

  • The full amnio results came back clear.  Thrilled.
  • Due to confusion about whether a CF carrier test had been done (confusion was mine), the test was done later in the process than normal.  The same day we learned of the amnio results, we learned that I was a carrier for CF.  The amnio did not test for this, because at the time the test was done, it wasn’t known that this could be an issue.
  • It took a little over a week to find out if LG was a carrier.  During that time, we had the most gut wrenching fight in our marriage to date as we grappled both with the emotions of everything we had been through as well as our completely opposite view of what to do in the event the baby had CF.
  • On Friday of last week, we learned that LG was not a carrier.  We took the first collective deep breath in months.  I looked forward to our 20 week ultrasound scheduled for yesterday.  Given all the testing that we’d already had done, I believed with every fiber that we’d be given a clean bill of health and could begin to take steps to enjoy this pregnancy.  I secretly made reservations at the restaurant where we held our rehearsal dinner to celebrate this turning point.

Then, yesterday.  We went in for the ultrasound at yet another specialist.  (My OB works with a network of specialists for all the non-routine procedures – genetic testing, amnio testing, L2 ultrasounds, etc.  It makes you feel like you’re in great hands but it also means you’re always meeting new doctors.)  This being my first 20 week ultrasound, I didn’t really know what to expect other than that they would look at all the organs and take measurements and that it would take about 45 minutes to an hour.   The facility is beautiful – big plasma screen on the wall for both of us to watch the proceedings.  At first the technician was quite chipper and pointed out structures as as she went along.  As time went by, she got increasingly quiet and seemed to be spending considerable time on the heart.  Again, I thought perhaps that was normal but my spidey senses were starting to tingle.  Finally, she finished up but told me not to get dressed in case the “doctor wanted a few more pictures.”  I’ve heard that line before…right before the ovarian tumor that later became early stage ovarian cancer was first identified.

Then, a second technician came in and had me roll around a bit in an effort to get the Nugget to move.  (The baby was stubbornly reclining on its belly and wouldn’t flip over despite all our best efforts.)  She too zeroed right in on the heart.  Finally I asked her – fully expecting that she couldn’t and wouldn’t say anything  – if this was because something was wrong or if they just weren’t getting the pictures they needed because of the baby’s position.  She looked at me, paused, and told me that she really wasn’t allowed to say anything, but that there might be a problem.   My eyes filled with tears.  LG’s grip on me tightened and his eyes took on that faraway look I’ve seen so often the last several months.  The tech was incredibly compassionate with both of us.  I am grateful for her candor and very much hope it didn’t get her into trouble.

Finally, the doctor came in.  He showed us the picture that caused them concern and began to scan himself to see if he could recreate it.  At first he couldn’t reproduce the picture, and I started to think it was just a fluke, but then he did…and we all saw it at the same time.  Nugget has a growth on his* heart.  We then went straight to our OB who further explained the situation.

It appears the baby has something called a Rhab.domyoma.  As long as Nugget is in utero, he should be fine, because I am keeping him oxygenated.  There is a chance that the mass will stop growing and then it won’t be as much of an issue, but if it continues to grow disproportionately to the chamber and blocks blood flow to the atrium, then the baby will be in serious jeopardy when he is born.

On Tuesday, we go for a second opinion and to have a fetal echo performed.  We’ll also meet with a pediatric cardiologist and a MFM doctor.  Depending on what they determine, we may need to meet with a pediatric surgeon as it’s possible the baby will need heart surgery shortly after birth.  Our OB also said she’d be arranging a meeting with the NICU staff, since it is highly likely the baby will need to go immediately to special care.  That – more than anything – drove things home for me.

The only bright spot in all of this is that for the first time LG and I have come together over this kind of news instead of retiring to our separate corners.  For that I am grateful.  Things are quiet around our house, though.  We’re both operating in suspended animation until we learn more next week.

*We don’t know the baby’s sex, but I’ll use male pronouns going forward, because I don’t like calling the baby “it.”

Beyond What to Expect – Part II

Picking up from yesterday…

Once the physical symptoms finally started to abate, it was time for the first trimester screening.  Before I go into that…a little context.  Since this involves both LG and me, and he’s incredibly protective of his privacy, I’m going to tell parts of the story in broad strokes.

About 6 months before we got engaged, somehow LG and I stumbled into a discussion of what each of us would do in the event we found out during pregnancy that the child we were carrying had some sort of highly debilitating condition.  It quickly became apparent that our respective views on this topic are as divergent as they could possibly be.  I think that gave us both pause – could we be with someone who held such a different viewpoint on a fundamental issue – but ultimately each decided on our own that it was such a remote possibility  that we would ever deal with the issue {cue ominous foreshadowing music} that it wasn’t something that would get in the way of all the wonderful things we did have going for us in our relationship.

I was actually looking forward to the 1st trimester screening as I was certain it would say everything was fine and it would be smooth sailing from there.   We met with the genetic counselor directly after the nuchal ultrasound.  First, the good news – the scan looked great with a measurement of 1.6.   Then she got to the bloodwork.  The free beta-HCG was slightly above normal (1.3); however, the PAPP-A was markedly low (.2 Multiples of Median or M0M).  The counselor explained that the blood results  were potentially indicative of Trisomy 21 (Down’s Syndrome).  The combined risk factor with the ultrasound was 1:71 for Down’s.  Bloodwork alone was 1:20.  To make matters even more fraught, she then told us that if the low PAPP-A wasn’t a result of the baby having Down’s, then it might be indicative of a placental issue that would put me at higher risk for preeclampsia, growth problems for the baby, and pre-term labor.  There was no question of whether we would have a diagnostic test, just which one.  Due to the bleed, we were advised against the CVS, so we had wait 2.5 weeks for an amnio.

Those 2.5 weeks were filled with tears, fights, emotionally draining discussions of what we do in the event the baby had Down’s, tension-filled silences, attempts to pretend everything was OK and back through the cycle again.  Finally it was amnio day.  I was quite anxious, but the procedure ended up being pretty painless and quick.  In fact, as the doctor was pulling out the needle, it actually looked as if the baby waved good-bye to this visitor into his or her* little world..  It was probably just an effect of the suction, but pretty cute nonetheless.

In a miracle of modern medicine, we got the preliminary FISH** results that same day.  I’m certainly not an expert on FISH tests, but my understanding is that they shine some sort of light on the sample (?) and they can see if two chromosomes light up for genes #13, #18, and #21 or three.  If it’s 2, it means that gene is normal, if it’s 3, then the baby has the condition associates with that particular chromosome.  (Anyone more knowledgeable, please feel free to correct me.)  The results from this test are 95 to 99% definitive depending on whom you talk to.  It takes 10 to 14 days for final results and that includes testing for neural tube defects.  Our FISH results…..  all indications of a chromosomally normal baby!  I was thrilled without reservation.  LG was thrilled with reservation until we got the full results.  We both started to take tentative steps towards allowing ourselves to be excited and putting the tension and distance caused by this unfathomable decision about whether to continue the pregnancy if in fact the baby had Down’s behind us.

Just like the IVF process before this, we waited anxiously for the call.  More on that to come.

** While we could learn the sex from the amnio, we’ve elected to wait until the big reveal in March 2010.

*fluorescence in-situ hybridization

Beyond What to Expect – Part I

I am so touched by the small but incredibly appreciated group of people who follow my story.  I knew that I had dropped off the radar with nary a word and thought about and meant to and really wanted to respond to the people who reached out via e-mail to check in (thank you!!), but never did.   Because I didn’t know what to say.  Given that, I knew I had no right to expect anyone to read much less offer such amazing support when I finally turned back to this space. The fact that you did moved me beyond words. I don’t know how often I’ll write, but I promise not to just disappear again. If I decide to take a break or even stop blogging, I’ll be upfront and honest about that.

Truth be told, I actually wrote my previous entry about a month before I posted it. However, almost everything in there holds true today although I am starting to see a light on the horizon. The last post was by design a very vague outline because I wasn’t ready to talk about the specifics when I originally wrote it.  Now, I’d like to fill in some of the details.  I apologize in advance for the negative and seemingly complaining tone of the next couple posts.  I want to be as honest as I can about what’s transpired these past few months both as a way to document the experience and also to provide some context for my absence.   I offer my sincere apologies to anyone I may offend who is struggling and waiting for the blessing of pregnancy and a child.  Please know that despite the experience I’ve had and the fact that thus far it has been dramatically different than the blissful glow of impending motherhood I envisioned, I am extremely grateful that we are in the position we are and continue to hope and pray for all that are in the throes of the struggle.

When we learned I was pregnant after our 3rd attempt at IVF, we were thrilled beyond words.   I actually knew before the beta thanks to copious use of pee sticks. I’ll never forget the catch in my throat and the heart stopping moment when the 2nd line made its way across the display window.   That said, I wasn’t exactly in a hugely celebratory mood as I was in the throes of moderate OHSS.    (To all those out there who have suffered through severe OHSS, my never-ending sympathies are with you as this was one of the most painful things I have ever experienced.) Ultimately, after essentially being bedridden for a couple of weeks because I couldn’t stand up straight much less walk or even breathe, Dr. Yacht made the decision to do a “tap” in which they drained the fluid from my abdominal cavity. They took 2 litres and the relief was almost instantaneous. Usually people have to be re-tapped at least once, but I got lucky and the OHSS completely cleared within the next week or so. Only to be followed by a very sharp pain and bleeding…and panic. We rushed to the clinic where they found a sizable subchorionic hemorrage (SCH). My doctor doesn’t believe in bedrest for SC bleeds, so we were left to just wait it out and see what happens. Fortunately, the little nugget hung on and the clinic and OB were good about giving us frequent ultrasounds to check in on things.  While it took until Week 14 for the SCH to clear (with off and on but always terrifying bleeding throughout that period), it’s now thankfully gone.

Shortly after the onset of the bleed, I began feeling more pain … and here’s where it gets into a bit too much TMI.  The pain was reminiscent of the worst UTI I have ever had combined with a nasty case of hemorrhoids except the pain was deep and internal.  My unmentionable parts were in agony.  After multiple highly embarrassing doctor visits including one with my OB, whom I’d never met prior to that appointment but who told it me it was all in my head (nice), no cause was ever found. It didn’t present like any pregnancy or OHSS symptom that everyone had ever heard of but was debilitating none the less. Again, I basically didn’t move for a couple of weeks.  My sofa now has a perma-groove shaped precisely to the outline of my not so slender self.  Then, as suddenly as it started, it stopped. At that point, we were near the end of the first trimester and starting to get a little bit of the excitement back. We even went out and bought the ubiquitous What to Expect… book.  And then…first trimester screening proceeded to rock our world and we’re still digging out.  More on that in the next post.