Saturday, June 28, 2014

The "X" Factor

Let me start this post first by saying how much we appreciate all your love and support.  I am getting nearly daily notes and emails of encouragement from so many of you and they are always exactly what I need to hear!  We can't express enough our gratitude for all the people in our lives spurring us on in this.  It means more than you can know!

Secondly, I have to express once again my amazement at what we have stumbled upon at OU Reproductive Medicine.  The other day I got a hand written note from our nurse, Connie, AND Dr. Hansen himself letting us know that they are glad we are their patients and encouraging us to call anytime with questions or concerns.  I have spoken with one or both of them over the phone probably 4-5 times since our appointment on Monday.  Connie calls to check in and help me set up appointments and Dr. Hansen calls with test results and advice. It's just so overwhelmingly refreshing.  We couldn't be happier with our choice to work with them!

Today's post will inevitably sound scarier than it actually is.  So don't freak out when you read it...even though I totally did when I got the call!  Jonathan and I decided to go ahead with some preliminary genetic testing.  We figured if we are going as far as IVF, we should take advantage of some of the knowledge that could potentially come from being so close to the actual process.  So what that means is that I get blood drawn for testing and if I'm found to be a carrier of anything (for instance Cystic Fibrosis, Tay Sachs, etc.) they will test Jonathan to see if he's a carrier too.  If he's not a carrier, then the "gene" stops with us.  If he is, then that increases our chances exponentially of having a child with that same disease or syndrome.  Like 1 in 4.

So during our first appointment I had blood drawn for that genetic testing and lots of other things.  On Wednesday night Dr. Hansen called to give me the results of everything.  He said my hormone levels and immunity markers were perfect.  My ovarian reserves are even better than he expected to see for my age and my prolactin levels, with the help of my current medication, are holding steady right where they need to be.  Though he did have a bit of alarming news to share with me:

"Ok, so the results of your genetic testing came back.  You are not a carrier for Tay Sachs or Cystic Fibrosis.  I don't see any markers for Trisomy issues or anything like that which is a good thing.  However, I *am* showing here that you are what's called an 'Intermediate Carrier of Fragile X Syndrome'.  What that essentially means, if I can explain this as simply as possible, is that one of your X chromosomes is a little longer than 'normal'.  A normal 'length' is 40 or below.  Yours is 51.  It's not a huge cause for concern since they can go up into the 200-300 range, but I'm the kind of doctor who wants you to know everything that I know so that you can make informed decisions.  This is not a result that would cause me to be hesitant about your getting pregnant.  But you should know that primarily in male babies, there is a small risk that it could be passed to your children.  Whether your son might present with symptoms of Fragile X or not is hard to say.  Research on the syndrome is still fairly new.  But it varies in severity from mild ADHD symptoms all along the autism spectrum.  But again, I don't want you to be alarmed.  It's not really a cause for concern.  But since the cost of your genetic blood testing includes genetic counseling, I'd like to refer you to a counselor to discuss whether it would be a good idea to get Jonathan tested..."

Ok so I'm sure many of you are thinking, "Ok what now??".  I was too.  So many things went running through my head and I turned into Anxiety Girl!  I jumped to so many irrational conclusions.  I'd gotten the call from Dr. Hansen while I was at church without Jonathan.  I immediately decided in my head that I was going to have to accept the fact that if we had boys, they would most likely have this Fragile X syndrome.  I googled Fragile X and sufficiently freaked myself out.  And then God reminded me what a blessing it is through this process that I have a husband who is right in the thick of studying his basic sciences!  He is VERY familiar with Fragile X and the genetics involved.  I went to him with the news and I was a complete basket case about it.  But he explained it so simply and reminded me also that even though this is scary news, it most definitely does not mean our son(s) *will* have Fragile X...

The negative to genetic testing is that we find out these things that we otherwise wouldn't know.  Things that may or may not even present in any of our children anyway.   But I'm Thinking Positive here and choosing to see the glass half full on this one.  Since this is fairly minute, we might not ever have known I carried this mutation.  If one of our grandchildren or great grandchildren suddenly presented with classic Fragile X syndrome, we would never have known where in the bloodline that had come about.  Now we can educate our children when it comes time for them to start thinking about having children.  They can make that educated decision as to whether they would like to be tested for the mutation, or at the very least be aware that the mutation exists and what to expect.

So what do we do from here?  We have an appointment with a genetic counselor next week.  They will talk with us about the statistics.  What to expect.  Whether it would be advantageous for Jonathan to be tested or not.  They will talk with us about our options in IVF to keep this mutation from being passed to our children if we decide to take those steps.  They will talk with us about what could happen down the line with our extended family in regards to this syndrome.  Basically they will be offering us options and peace of mind and knowledge on the matter.  We feel pretty good about that even though it IS scary to think about...

But no matter what we decide to do or not to do, if it's in the plan for us to raise a child with Fragile X syndrome, we will love him just the same.  He will be ours and the depth of our love for him will be no less deep than it would be for any of our children who do not present with Fragile X.  This is by no means a deal breaker for us.  It's nice to know going in, but it doesn't change our decision to move forward in our quest to become parents.  We are firm believers that God equips us to handle situations as they come.  Even though today it somewhat terrifies me to think of having a child with such special needs, I know He is providing me strength for today to stave off that anxiety.  And He will provide me strength for tomorrow as I need it to walk through this process and, should I need it, He will give me strength and wisdom to raise and love my son no matter what his genes look like.

So pray for us and our little Baby Womacks.  They are (hopefully!) headed this direction soon!  I will start birth control next week and then we are officially hitting the ground running in all of this.  I will take 4 weeks of birth control, have one more period, and then it will be our IVF cycle.  Can you believe it??  We are 4 weeks and a matter of days before the real deal is really happening for REAL.  My anxiety rises sometimes as we get closer and closer.  There are times when I let the doubt creep in and I kind of space out into my silly irrational "what ifs".  And then along comes a sweet note or phone call or email from someone that gives me that *strength for today* that I so need some days.  Thank you for that if you're one who has been that strength for me!  We feel your prayers...we really tangibly do.  So keep them coming!

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