The Diagnosis

The Diagnosis

Do you know that feeling when it hurts so much to know something but it gives you so much anxiety not to know? That’s how I felt when it came to finding out the diagnosis of our baby.  My mind has been racing every which way but the thought of knowing made me sick.

 We were just heading out for my weekly routine check when my phone rang.  When I saw the number, my heart sank.  It was my genetic counselor calling to give me the results of my lab work.  I listened to him tell me my baby has Turner Syndrome.  I had a sigh of relief but yet I wanted to cry.  I then thought to myself, “Wait, only girls can get Turner’s!” He just told me I was having a girl.  I actually had a moment of excitement.  It didn’t matter the sex but at least I knew that result would not be a disappointment or bring me sadness. 

Turner Syndrome (TS) is a genetic condition that affects females only. It occurs when one of the two X chromosomes (one of the two sex chromosomes), normally found in females, is incomplete or missing. While some babies can live a normal life, many develop other conditions like Hydrops and Cystic Hygroma and their lives end in spontaneous abortion or stillbirth.  Research says 1in 2000 to 1 in 5000 babies have TS.  We just happen to be that 1 and I wish I could say I would be the last but we know that can’t be the case.  They did say the silver lining of finding out that the baby has TS is that this is one of the chromosome abnormalities that would least likely happen to us again. 

I will continue to go into the doctor on a weekly basis for fetal heart tones and checks to make sure I am not developing preeclampsia until baby passes.  We were in earlier in the week last week and the heart tones were still in the 140 range (which has been the case for the whole pregnancy). Unfortunately by mid-week the heart tones had dropped significantly to the 70’s. I am still feeling lots of movements which is the hardest part for me.  It’s a mental battle.  I am trying to enjoy and embrace every movement I feel but knowing the end result just makes it that much harder.  My belly continues to grow rapidly as I am 24 weeks this week.  It is very hard to get dressed in the morning and see myself and not be sad of what the future holds for us.  I keep telling myself every day that God has some plan for us.  We don’t know what His plan is at this point and it seems unfair but hopefully someday we can see through His plan.  The best way I can explain how I feel right now is that I am a hospice nurse, only my patient is inside of me.  I feel that I have to take care of my baby (my patient) and give it as much comfort as possible until she passes, just how hospice nurses care for their patients. This may seem weird but it helps me get through this.  

Please continue to pray for us, each prayer makes a difference.  We still have so many decisions to make and we know the sadness that is in our future.

Thanks for all the love and support!

Love you all

Heather & Jeremy