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.