If you haven’t yet read my first posts about our infertility journey, please begin there (First, Second, Third). Also, if you want to stay up to date with our posts, submit your email in the “Subscribe Through Email” on the right of this page. Comments & questions are very welcome here!
I left off sometime in January of this year (2016). We just miscarried our 6th baby, but this was the first time we sent our baby in for genetic testing. I’m honestly not sure what all they tested on our child, & I probably don’t yet understand half of it, but I will try my best to explain.
First off, we got to find out the gender of our baby for the very first time!! Our 6th baby was a GIRL! When the doctor was explaining the answers of these tests, she kept on saying “she” nonchalantly. I thought maybe for a second that the doctor was referring to our baby, but I was too scared to ask (I didn’t want to ask a dumb question). Thankfully my husband was wondering the same thing and asked (go babe!). I couldn’t believe my ears. Although we already lost her, I had a baby girl! It made everything so much more real, but in a good way, not a sad way. Considering my husband has 3 brothers & no sisters, I almost always felt our chances of a baby girl were slim. Although, just about every time I knew I was pregnant, I couldn’t picture anything but girls. Maybe that’s because I’m a girl, I don’t know haha.
On to the results of the testing. Our baby most likely passed away because she had Monosomy X which is also known as Turner Syndrome. Turner Syndrome is commonly found in miscarriage & is found in 1 in 4,000 to 1 in 10,000 female live births. Females typically have 2 X chromosomes. Turner Syndrome is found when one of those X chromosomes are missing or structurally altered. We recently had an appointment with a genetic counselor to discuss these findings further, as well as where to go from here. The appointment lasted a little over an hour, much of which I may not explain well, but I will sure try. From what I remember, the likelihood of us having two or more children with Turner Syndrome is very very slim. This tells us that our previous 5 losses were probably not from Turner Syndrome. The genetic counselor suggested that we first both get tested for balanced translocation. Balanced translocation means there is “an even exchange of material with no genetic information extra or missing, & ideally full functionality or unbalanced, where the exchange of chromosome material is unequal resulting in extra or missing genes.” In my own understanding, balanced translocation means that you can have the correct amount of chromosomes, but a part of one chromosome exchanges with a part from another chromosome, making the chromosomes look whole & balanced, but they are not. This often results in miscarriage or in a child with a disability. If either of us come back with a positive on the balanced translocation test, it basically means we would be playing “Russian roulette” with pregnancies. My prayer (I invite you to pray this as well) is that we both test negative for balanced translocation. Although it would still leave us with questions, I would like to check that test off the list! I also will be getting tested for Lupus Anticoagulant Antibodies, which would tell us if I have Antiphospholipid Syndrome or not (don’t worry, I can’t pronounce it either). This is basically a blood clotting disorder. Once we get the results back from these two tests, then we will discuss what other tests or treatments we would need.
When we found out this information, I honestly was glad. Although I wish my children were alive, I’m glad to have some more answers. Had there been no genetic abnormalities found in this last pregnancy, I would have questioned everything I did & constantly asked myself if it were my fault our baby died. Our hope & prayer is that this truly was one in a million, & that our next pregnancies will be full term with no complications. I have a feeling that my previous miscarriages could have been because of the genetic mutation that I have (I talked about it in a previous post), but this last one was the only one due to chromosomes. My feelings have been wrong before though.
Have you or has anyone you know been tested for balanced translocation or the blood clot disorder? What results came up? I’d be very interested in hearing your/their story!
If you have Turner Syndrome, thank God you are alive! You are truly 1 in 10,000 & a miracle!!
We are praying!!!!!
❤️
Praying!!! Love you so much!
Love you Bethany. And always praying for you.
I’m checking with my daughter in law to see if hers is the same blood clotting disorder.
My ex-step-niece has Turners Syndrome! She is 1 in 10,000 indeed! :)
Bethany and Griffin we love u both so much and are continuing to pray!
Your spirit is amazing. Praying and believing for you every time you come to my mind.
Although, you probably don’t remember me but the mcgraths have been dear to my heart. I stumbled on your blog through social media. My sister in law lost her baby at 37 weeks and had other miscarriages. She was able to carry two babies to term (who are healthy, praise the Lord) by taking a blood thinner through her pregnancies. I’m not sure if she had what you discussed, but another friend took blood thinners as well after 8 miscarriages to take a baby full term. I believe my friend did have a blood clot disorder. Anyways, I say all that bc I am believing with you for renewed hope and answers. He has you, I promise!
I lost my first at 26 weeks then had 1 full term baby, she is the love of my life, and have had 4 losses since her. I was tested for lupus and about every other clotting disorder in the book with negative results even though blood clots caused my first loss. We are doing balanced translocation testing soon as well! Hopefully we both get good results back! Sending love and prayers your way!
Wow, I can’t imagine losing a child at 26 weeks. I am so sorry! I hope that the balanced translocation tests come back negative for you & me but that you also get answers. Thanks for the prayers!