#XFXOPI

[reasoningwithmybody-blog]

Fragility

Last night, my husband looked at me and said, “Thank you for making us have a kid.”  He’s said things to this effect before, expressing how happy he is that I pushed the issue.  At the time we were struggling with my infertility– had it been up to him – he would have left it at the doctor telling me I couldn’t have children, and that would be that.

My OBGYN recommended a fertility specialist.  I went on my own.  I barreled through it without much thought for the fact that my husband only half-heartedly on board.  He was content with our lives.  I wasn’t.  Is that horrible to say?  I loved him. I do love him. But I felt something missing, not necessarily from my relationship with him, but from my life. I wanted someone to take care of.

The initial appointment wasn’t a physical exam; it was a consultation, and the doctor (I’ll call him Dr. B) laid out our options.  We would start small, the “turkey baster” method, then move to more expensive and invasive treatments like IVF.  I did genetic testing because why not?  It wasn’t expensive (it wouldn’t cost more than $100 even if our insurance didn’t cover it).  And I was not expecting anything wrong with my genes.  I was healthy.  My parents were healthy. 

I was still so optimistic.  To this day, I trust medical professionals.  So when Dr. B sounded so confident, I believed him.

It was July.  I remember it was too hot to run outside so I had just started a run on the treadmill when I saw his number on my phone. 

He told me that I was a carrier for a permutation of Fragile X syndrome.  I had never heard of it before, but Fragile X is the leading known cause of autism. It causes intellectual disabilities and behavioral problems. It’s called Fragile X because the X chromosome expands.

I do not have full blown fragile X as my X chromosome hasn’t expanded to what is called the full mutation, but I still have a chance of passing this along to my children.  A woman with the full expansion has a 50/50 chance of passing it along.  If passed along to a girl, it rarely presents itself because females have two X chromosomes.  Males have one, so that is where we see the genetic mutation presents.

There are moments where you can divide your life into before and after.  All of us have them.  They tend to be tied up in grief.  This was one of those moments for me.  Being told you have a genetic disease that you could pass on to your offspring is a world upending moment.  What’s more, not having the full mutation of Fragile X actually made my chances of having a child at all more difficult.  Women with the permutation undergo something called FXPOI which is Premature Ovarian Insufficiency, which means it’s very hard to conceive and carry to term.

Looking bad, it’s difficult to remember the spiral this sent me down.  For a while, my husband was the only person I confided in about this, only I stopped talking to him. At all. I shut down.  I felt so ashamed, as if I had done something wrong.  I felt like less of a woman.  Suddenly, all my feminism left me and I just knew the biological reason for femaleness was baby-making.  I couldn’t do that.  I failed my husband.  I failed my parents.  I failed my in-laws. I hated myself for waiting so long to get married, to get pregnant.  I hated that I put career and something as silly as being happy and compatible with the actual father of said baby if it meant I could have one. In the weeks to come, as I sat beside my husband but didn’t let him inside my despair, I grieved the loss of life I never knew.

When I got off the phone with Dr. B, I sat on the floor next the treadmill and cried for nearly an hour.  Even now, I can picture that moment.  I can feel the shame well up inside of me.  I can feel the terror.

Still, for a little while, I had hope that we would still conceive.

Dr. B said that we could talk about my options.  He said we could continue forward with treatment and hope for the best.  Especially now that I have a child, I can say 100% without a doubt, I would go through with the treatment even knowing the risk of having a child with intellectual or behavioral disabilities. It has no bearing on a parent’s love for them.  At the time, though, without having kids, I’m not sure I would have made that choice.

He connected me to a genetic counselor, who said I had a 20% chance of having a child with fragile X.  These were good odds, as far as I was concerned, so I kept my appointment with him to look at my follicles and move forward.

Dr. B wasn’t able to make it to the appointment, so his partner did.  His partner – Dr. A -  said the likelihood of me conceiving and carrying was so slim it was a waste of time to even try.

I sat in the leather chair of his office, my husband by his side, and stared hopelessly at him. He was so matter of fact.  So harsh.  Dr. B said we were still going to try!  He had given me hope!  And then Dr. A just squashed it all with one glance at my chart.

But holy shit.  I am so fucking grateful for that man.   He changed my life.  He made it possible to have my son.