Mutant Ninja Gene

Before I begin, a side note.  From now on my  husband will be referred to as H (short for husband).  Clever, I know.  But, I'm tired of referring to him as if he's my possession and H won't take as long to type.

People warned us IVF would be an all consuming process.  At the time, I didn't get it.  I thought we'd just follow the protocol and be on our merry way.  Now I know that a lot can happen in a short amount of time.  And when things happen, my perspective starts to change.  I'm constantly having to adjust my coping mechanisms for getting through the ups and downs.  Like when this next bit of news took me by surprise.



Remember that genetic test I willy-nilly took?  The one that didn't seem like a big deal because I'd just give some blood, get the all clear, and walk away with at least one unknown lifted off of our shoulders?  Well... as usual, life isn't that simple.  The process for this test, however, is very easy.  You register a kit on line, the doctor mails the blood work, and you can check the progress from your very own computer.  Did the lab receive my registration?  Check!  Did my blood sample arrive?  Check!  Is the sample being processed?  Check!  Then things stalled.  Instead of getting the - Your test cleared check mark, my page said the results had been released to my doctor.  Ugh.  My doctor was going to have to break some sort of (probably bad) news to me.  Anxiety descended.  It was only 9am.  I'd wait all day for SGF to call.  They typically like to rock my world at about 4pm.  True to form - my cell rang at about that time.



My genetic test did not clear.  It came back positive for something known as Spinal Muscular Atrophy (SMA).  I carry a gene mutation that has the ability to cause a disease in another person (when coupled with a spouse carrying the same mutation).  As usual, I had some learning to do.  Thankfully, instead of having to use the dreaded google, the testing company's website goes into great detail about the disorder, the risks of passing on the gene, and even offers counseling.  There are several degrees of SMA, some worse than others, all resulting in loss of muscular control and mobility impairment.  In the severest form, it's life ending by age 6 months.  In the best case, symptoms don't manifest until early adulthood and, while crippling, isn't life threatening.

(due to my blog learning curve, you may have to wait a second or two to be able to scroll down further)

Spinal Muscular Atrophy

Increased risk

Reproductive risk: 1 in 470

Risk before testing: 1 in 54,000

So how does this make me feel?  On one hand, there's this awful genetic disorder festering somewhere in my DNA.  I can't help but feel kind of flawed, as if my double helix has this giant red zit or something.  No one wants a zit.  They're ugly and distracting.  On the other hand, I was worried this would mess up the timing of our protocol.  You don't get to start the meds until the genetic test(s) are clear.  We'd signed those forms so H would now have to take the test.   Results take anywhere from one to three weeks.  We were 12 days from my first scheduled injection.  If not back in time, the doctors would put the protocol on hold and I couldn't bear the thought of dragging this out anymore.



When I got home to discuss all this with H (he'd of course already received a tearful phone call from me and done some research of his own), we began to feel the weight of this issue.  After a lot of conversation we hypothesized the worst case scenario.  Let's pretend we're both carriers.  What if IVF only resulted in one viable embryo?  What if we allowed that embryo to be tested?  What if the test came back positive?  If we understand the literature correctly, there'd be a 25% chance our hypothetical child would have some form of SMA.  Like a ninja, you don't know when the gene will strike.  That's a big gamble and remember we wouldn't even be having this conversation (most likely) if we would have been able to conceive naturally.  I wondered, is it fair to knowingly put another human in that position?  H wondered, is there a point when medicine interferes too much?  We both just felt uncomfortable until H said something that really put me at ease.  He said, in so many words, if our child had SMA, one possible outcome would be that the two of us, those who know us, and maybe even others would have the chance to learn to be more compassionate people.  He added that giving the world the opportunity to be  benevolent in the face of adversity isn't a terrible thing.  I was blown away.  His perspective came from some beautiful place where my mind hadn't been.  I had spent all my time thinking about what all this does to me. Me. Me. Me.  That's a really narrow view of things.  I instantly stopped dreading the hypothetical because no matter what situation surfaced, we'd get through it just fine.

*Maybe this IS an actual photo of my husband!  His test was clear, by the way.  We're moving forward with the original protocol; no major life decisions to make this week.

AMH-Bomb

After recovering from the mock embryo transfer, I ended up going to work the next day.  Being busy helps me keep my mind off of counting the days until egg retrieval.  At about 4pm, work was winding down and I was going to head home when the phone rang.  My least favorite digits popped up.  It was SGF.


(my mood is changing a bit, forgive the ugly photo)

The nurse was calling.  I wasn't surprised; I'd emailed her earlier in the day with a few questions.  Before getting to those she said, "Your infectious disease blood work came back clear.  Your husband's did too.  But, your AMH level is very low."  My what?!?  Turns out AMH stands for Anti-Müllerian hormone.   Research has shown that the hormone level can be used as an indicator for what's left in a woman's egg reserve.  I didn't think I'd ever heard of it.  I don't even recall that anyone told me they were testing mine.  The nurse proceeded to answer all the questions I'd emailed.  I wasn't listening.  I was still thinking about my hormone level.  So, I interrupted, "Um, I think I'm worried about the AMH."  The nurse offered this in consolation, "Well, the doctor still wants to move forward."  Again...What?!? I didn't even know that was in jeopardy!  My heart sank, my stomach was in my throat, and my brain was spinning.  An AMH-bomb had been dropped.  Even though my lack of reserve has nothing to do with the nurse, I didn't feel like talking to a bomb dropper anymore.  I abruptly ended the call despite wanting to know more.  Evil ol' google would have to inform me.  I typed in "very low AMH."  No help there; just bad news from sad people on blogs.  Then I called my husband.  He told me to come home because I sounded like  I needed a hug.  I left the office, but not before foolishly doing some more pointless googling.  By then, I was desperate for that hug.



My level is .017.  I have yet to find a chart that even lists this number.  "Very low" is considered 0.3.  The doctors wanted to see a 1.0.  I just wasn't expecting this bit of bad news.  I'm a healthy, active person who eats pretty well and has never had a major medical issue.  How could I be on the verge of running out of eggs?  I started wondering if marathoning and stress and age caused my eggs to vanish.  I wondered a lot of things.  Wondering got me nowhere.  I moped around for a little over a day and then allowed my husbands words to sink in, "this is just one aspect,"  and "tests aren't always accurate," and "we're going to be okay."  Everything he said is true.  He continues to be my savior in all of this.


**This is not an actual photo of my husband.

What I've gathered is that an off the charts low AMH may mean my ovaries won't respond to IVF ... they may not give up multiple eggs from my farm (sounds cuter than reserve).  Doctors like a lot of eggs because it gives them more to fertilize and the more they fertilize the more likely they are to get good ones to reach embryo stage.  Furthermore, if IVF round one doesn't work (it will!  it will!!) and there are extra eggs, they can be frozen and used for round 2.  The bonus of embryos on ice is that you can avoid taking all the drugs again (btw, I got a glimpse of those today ... I felt like I was on fear factor).  We'll just have to wait and see what happens.  For now, I'm putting more thought into what people have said to me, "It only takes one!"  Right!  I don't need a basket full.  Just one Grade A egg lucky enough to live.

Well that was unexpected.

Being blindsided is becoming a regular stop now that we're on the IVF train.  My first big shock came during the holiday appointments.  The ultrasound went well.  They counted 7 follicles (that's one more than I had before - I naively found comfort in this), thought the endometrial lining looked good, and said things were the right measurements.  I took the tech's word for it.  To me, the ultrasound monitor looks like nothing more than a fuzzy television... which makes me think of Poltergeist... which I really need to get over because there are a lot of ultrasounds in my immediate future.  Despite the horror show reference, believe me when I say I was feeling really good about our prospects.  I'd convinced myself we had this in the bag.



Then I got a dose of IVF reality.  Early on a snowy morning my husband and I headed back to SGF for a mock embryo transfer.  To say the least, it was an ordeal.  It's a mildly uncomfortable procedure and starts off like an annual pap exam.  Annual pap exams, for me, are a nightmare.  I won't get into the details, but their a pain.  Literally.  After thirty minutes of unpleasantness we headed home.  I actually felt fine and was glad they did the mock - it'll make actual transfer day go a lot smoother.  I settled in at home to watch some movies when all of a sudden the excruciating cramps came.

Cramping-  it's a term many women are familiar with.  But, this wasn't ordinary cramps.  The feeling was so intense, I was frightened by it.  I needed pain killers - pronto!  I'd have to get it myself; I was home alone.  As I made my way down two flights of stairs, hunched over and moaning, the world began to go black.  "DON'T FAINT," I told myself.  I might have also told myself that if I passed out I'd never wake up and die.  That was dramatic (and I'm not proud of it), but I was worried about fainting when no one was around to shake me back to consciousness   Somehow I managed to sit myself on the ground while still semi-alert.  Things continued to fade for a second or two and I just tired to breathe.  Almost as quickly as it went, the light started to return.  Hallelujah!  I'd live.



Now I had a decision to make.  Should I continue my trek to the kitchen for much needed meds or make my way back up the stairs to get to my cell?  No contest - I was desperate to be near my phone.  Does that say something about our current culture?  It might.  Hey, at least I didn't tweet about it.  I tried calling my husband.  No answer.  I sent a pathetic, pleading text.  I doubted he'd see it.  This wasn't going to be easy - he was busy volunteering at a local homeless shelter.  I called SGF.  My doctor assured me this wasn't unheard of and advised me to take some pain killers.  It gave me some peace to hear her say nothing  catastrophic was happening.  None the less, I was scared to attempt the stairs again.  I googled the shelter (from my phone - thank you very much!) and called.   The staff found my husband and sent him home.  When he arrived, I was face down on the carpet.... petting it.  Yes, I just said I was petting the carpet.  It somehow soothed me.  I share that odd tid-bit so you realize - I was totally out of sorts.  Crazy and crampy.


30 minutes and 4 ibuprofen later I felt better.  But, I was rattled.  IVF wasn't so exciting anymore.  It through me a curve ball when I least expected it.  As a result, my positive vibes were jarred.  Some days were obviously going to be physically draining and others would be emotionally exhausting... as I'd experience a little over 24 hours later.