The Diagnosis

    I was encouraged to begin this blog after my own search for women sharing their experiences in my situation turned up nothing.  I thought that maybe if I shared my path and the impact my diagnosis has had on my life, it could be beneficial for someone down the road.  I have longed so much to talk to someone who has walked this path before me to give me advice, encourage me, help me figure out the next step, and I have yet to connect.  I hope this blog will be an encouragement and a blessing to you, even though as I write this, I don't know how my story ends.

So how did it begin?...

    I guess I will start with what is most important to me.  After more than 2 years of trying, including about 5 months of using an OPK (ovulation predictor kit), my husband and I found out we were pregnant for the first time on January 23, 2012.  I had taken a pregnancy test the week before and it came back negative.  After another week of waiting for the dreaded period to come, I went ahead and took another, the only reason being is so I could "let go" of the idea that pregnancy was a possibility.  After 2+ years of trying I have had more than my fair share of negative pregnancy tests and with this one there was not an inkling of belief in me that it would turn positive.  Boy was I wrong!  It turned positive in less than 30 seconds!  My hands shaking, I walked down the hall to share the most wonderful news I had ever received with my husband of 5+ years.  We were ecstatic and scared that it could all be too good to be true.  I did the usual blood tests to check my hCG levels over several days and they went up just like they were supposed to.  I was 5 weeks pregnant.  Finally!  Two weeks later we went in for our first exam, more bloodwork, and our first ultrasound.  I was so terrified that the pregnancy would not be real, that something would be wrong.  When we heard our baby's heartbeat for the first time and saw the little blueberry, I had tears in my eyes.  It was the purest, happiest moment of my entire life.  As my mom said, "best picture ever".  We were told it would be safe to share our good news since the heartbeat was so strong and all the labwork looked good.  Over the next few weeks we shared the news with parents, siblings, aunts and uncles, grandparents, cousins and a few select friends.  We made so many plans and were so incredibly happy, the happiest time of our lives.
    I wasn't prepared for that 11 1/2 week checkup.  We planned on sharing the amazing news with the rest of the world that next Monday, the 12 week "safe mark".  Five days shy of that mark my world collapsed.  The words I will never be able to get out of my head as the doctor looks at the ultrasound of my baby, "Guys, I am so sorry, I can't find a heartbeat."  Everything seemed to happen so fast then, she brought in another doctor to confirm and we were given our options.  We elected to have a second opinion at a perinatologist.  He confirmed what we already knew and said there was no chance that they could be wrong, not with a baby that far along and that size.  Our baby was only the size of a baby around 9 weeks, instead of 11.  My doctor strongly advised me to proceed with a D&C due to the size of the baby and the risk to me.  The procedure was scheduled for March 9.  I can't even begin to put into words what I felt and the thoughts that went through my head during that time.  I will leave those for another post.  Suffice it to say that I never have to question what the worst day of my life was or how the experience changed me.  I felt like I had lost my whole world, all my hopes and dreams for the future family I wanted my husband and I to have together, all my hopes and dreams and the planning for that little one growing inside.

    We found out several weeks after the procedure that my baby had something called Turner syndrome.  Turner syndrome is one of the biggest causes of miscarriage and 99% of babies with the syndrome either spontaneously miscarry or are stillborn.  Turner syndrome (TS) is a chromosomal condition where either all or part of the second x chromosome is missing.  We now also knew at this point that my baby is a little girl, since only females can have TS.  I have found records stating that anywhere from 10-20% of miscarriages are caused by TS.  It is not a genetic condition, meaning a woman cannot be a carrier of a TS gene and if you have one baby or miscarriage due to TS you are not more likely to have another with the condition.  Usually.

    The case is different for me for a very important reason.  When my husband and I went for our post-surgical followup appointment, the doctor's office took blood work in order to do our karyotype testing.  Even though they would usually only proceed with the karyotype test after 2+ miscarriages, they recommended we go ahead since we had been trying to get pregnant for so long.  After a few weeks, the doctor called and I received another shocker.  I was diagnosed with Mosaic Turner Syndrome.  Mosaicism just means that instead of me missing the second x chromosome in my entire DNA strand, I am missing it in some parts of my DNA, but not all.  I couldn't believe the diagnosis was true because everything I had read about TS after I was told my baby had it, did not match me. According to what a woman with TS looks like, I wouldn't fit into that phenotype, or the observable traits.  I am tall, do not have the extra neck skin, and have a normal hairline and eyes.  Also, I have had a regular period since the age of 12 and was able to conceive a child.  Typically someone with TS will either have an irregular cycle or never start their period at all.
    Due to the fact I have TS, I am more likely to conceive a child with TS because my eggs may not have the appropriate DNA coding to pass on.  This puts me at a higher risk for miscarriage.
How much higher? Not sure.  Possible to conceive and deliver a healthy, biological child? Not sure.  
Everything I knew about myself changed in that instant.  The phone call that once again flipped my world upside down was received on April 10, two months ago yesterday.

I would like to share throughout various posts all of the doctors I had to followup with and what my experience has been thus far.  Again, I hope this blog is a blessing to you on your own journey.  I am looking for meaning behind this diagnosis and hoping some greater good will come of it.

~T.