When An Amniocentesis Becomes Your Saving Grace

It was just a routine 16-week checkup. Let me reiterate. I meant…

It was just a routine 16-week checkup, followed by an email parading the words in the subject line:

You have 1 New Message: Leah, please see me about your results.

I sunk my face into the palms of my hands and started swearing. I read the new message written in all capital letters, no mercy given, whatsoever:

ABNORMAL TEST RESULTS FOR DOWN SYNDROME.

My genetic quad screen results had shown my baby was at high risk for Down syndrome, high risk being 1:150. To me, seeing those numbers indicated that out of 150 other mothers, one of us will have a child with Down syndrome. I figured one of us will have a child with a terminal illness, one of us will have a child who will require an emergency delivery and so on… it’s 1:150 (that’s a lot of moms, isn’t it?). Personally, I thought all odds seemed to be in my favor. I’m young, healthy and had a perfect pregnancy with my son.

Science thinks otherwise.

Since I was tracking my period with this pregnancy, I hadn’t had an ultrasound yet and was banking on my 20-week scan. Due to these abnormal results, I was given the opportunity to see my baby a little earlier than expected. Within a couple days, my doctor called an order in for me to get an ultrasound done at the Maternal and Fetal clinic, along with an appointment to meet with a genetic counselor to better explain my test results and options following the ultrasound.

Meeting with the genetic counselor, we learned risk of Down syndrome for a woman of my age (27) was 1:900. My blood levels were abnormal for 3 out of the 4 categories that characterize a child with Down syndrome — And those three were over/under by quite a bit. Understanding this, if the ultrasound were to show significant Down markers we were given the options of 1) Do nothing 2) Termination 3) Noninvasive blood test 4) Amniocentesis.

Side Bar: Why do they list an amnio last? Is it because moms are terrified of that word as so many horror stories are plastered across any and every pregnancy community board you can think of? Have you seen those needles? Miscarriage chances? I bet doctors hate those pregnancy community boards.

Termination was immediately out of the question. When comparing the blood test and amnio, we decided if there was even the slightest marker of Down syndrome we would opt for the amnio to be done after the ultrasound. I am a worrisome mama who needs answers and I need an abundance of correct information to prepare my mind for all things. Knowing that an amnio was covered by insurance, took about four minutes and I had a much, much higher chance of a chromosomal abnormality than miscarriage, this test with 99.9% accuracy deemed to be what we needed to do. Something I’ve never wanted to do, however.

It was like dejavu seeing our tiny human on the ultrasound screen. We sat full of smiles as our baby tumbled around while the tech took measurement after measurement… Multiple times, she would tell us, “this is… this is good… this is normal… this is good… this here is the labia, ohh, congrats!” We were overjoyed. My motherly instinct screamed boy, again! Once she left the room, my husband and I couldn’t stop smiling recalling back to the many movements we had just witnessed our girl making. She was so alive and perfect!

Yet, within minutes the doctor and genetic counselor were in the room and smiles and laughter that filled the room did a complete 180 as the next words spoken were spoken steadily and in a somber tone. “… And your baby has short long bones.” Tears. Tears were all my body could physically let out. My tears took place of any question or concern I was meaning to ask. The vision of my tears and my husband slowly rubbing his head are never two things you want to see at once. That is a sign of not wanting to accept what was to come next. That is a sign of defeat.

The doctor, nurse and ultrasound tech took about 5 minutes to set up for the amniocentesis. She mentioned set up would be longer than the initial procedure itself, and it was. I laid with my arms above my head while the ultrasound tech held on tight to my right arm and reminded me to breathe… in, out, in, out. So that’s what I did, aside from the quiet, chilled tears flooding my eyes making their way down each cheek. My perfectly planned baby… What will we name her? Will she look like her big brother? I desperately tried to focus on her arrival.

It felt like a quick shot and then another when it reached the sac, an odd feeling, but not painful by any means. I remember the doctor’s hand shaking as he pulled each vile of amniotic fluid, three to be exact. All done. Time to go home and await the results. We held each other’s hand tightly, and did just that… we went home. All of a sudden, the world felt so still.

That was on a Friday afternoon.

The following Monday, at 7:13am I received the call I had been waiting for. It was good news! FISH results showed our baby girl was clear of a chromosomal abnormality. Those words lifted me as I felt weights were being magically removed from my shoulders… A moment when you don’t realize how you’re even standing due to the worry of your child. FISH results were the first part of an amnio which counted each chromosome, this showed us she has all 46. This is good. We would receive the last part of results within 10 days. These results are when they analyze each and every chromosome and gives the 99.9% accuracy, whereas FISH results are 95%. Once again, the odds seemed to be in our favor.

Alas, I tell you… science thinks otherwise.

The next Tuesday afternoon, eight days after receiving our FISH results, our genetic counselor called with the last half. She didn’t start out with, “I have good news!” this time. Instead, she asked if I had time to talk. I should have said no.

She explained she was quite surprised what the results had shown. I learned my baby girl has a rare hormonal syndrome called Turner Syndrome. Most girls with Turner syndrome either do not survive the first half of pregnancy or the syndrome isn’t recognized until later in life when the child stops growing, experiences organ complications or hormonally doesn’t develop correctly.

It effects approximately 1 in 2,000 girls. Turner syndrome is caused by a chromosomal defect where typically, girls with this syndrome are missing a whole X chromosome. FISH results show our baby has all 46 but one of her X’s has manipulated itself and in this case it will not function correctly. With that thought in mind, she will bare the symptoms of a girl with Turner syndrome.

The main symptoms of Turner syndrome are short stature, delayed or absent menstrual cycle and infertility.

Side bar: Infertility? The girl who was adopted as an infant and created a blog focused on adoption advocacy and the search of her birth parents is given a child who is infertile? Okay deep breaths… I can do this and I will do it so good. 

We also know she will receive some type of hormone therapy (in the form of a click shot) most of her life. Turner syndrome girls reach an average adult height of four feet, seven inches. Since we caught this before birth or any possible symptom later in life, we’ll be set with the correct genetic team and begin growth hormones as a toddler, allowing her a likely chance to reach an adult height over 5 feet. Down the road, around the ages of 8-10 years we’ll start an estrogen hormone so her body goes through a regular menstrual cycle and develops full breasts.

This syndrome… It’s been weeks, yet I still need to take deep breaths before I explain Turner syndrome. I probably always will.

This syndrome is very manageable but the degrees of Turner’s are rather broad with varying characteristics from girl to girl (premature delivery, physical features, kidney, thyroid, hearing or vision repair and heart defects (heart defects, I hate those words), to name a few). There is a lot of unknown to come with this and that is terrifying to me. Not exactly knowing what lies ahead of us is the part that tends to beat me down when my baby is referred to as a “Turners girl.”

It took a few days, a few phone calls, a few Kleenexes and a few good friends and family to understand our next steps. It’ll be a lot of doctor appointments and a lot of decisions that’ll fill our days. Yet within those days, we’ll have our {tiny} baby girl who others may see as different. She’ll be seen as fragile, although we know she is stronger than the average butterfly. The good outweighs the bad in many instances when it comes to our daughter’s diagnosis… I am so thankful for this.

Without having done the amnio, it is extremely likely we would not have caught this before birth until she suffered sometime later in life. I would not have been prepared or understood how to explain Turners to adults, and especially not to our two children. Having less than half of my pregnancy left, I’ve been given the correct amount of time to grieve and feel for my daughter. I’ve been given time to fall into shock and resentment, most days being better than others. I’ve been given time to detach from those emotions and see a lightness to everything. As any mother, I find selfishness in my ways and I’ve grown a household to obtain to my way, my time and my rules. My girl will bring in a new set of rules and way of life. I’ve been given time to accept that we’ll soon begin a “different” way of living, not to mention a different way of loving.

The amnio has allowed me to take in every kick and every heartbeat heard. I have been given the opportunity to one day feel my girl’s arms wrapped around me as I love up on her so much, no matter how small. Without knowing, or never imagining possible, I’ve been given a love so big that people will feel with every sense of their being. To be reminded by so many that I am the best thing that could happen to this little girl gives comfort in realizing I am already her biggest fan in all things possible. 1 in 150? My girl is 1 in thousands. This is a life destined to be lived fully and beautifully.
Turners will not define my child. I will expect her to eat her vegetables, show kindness, leap, jump, run and sing boldly in the shower. I will work to show a new approach to Turner syndrome in support of others who may someday find themselves in my position, dumbfounded and lost in a sea of brochures. I will use this syndrome as an outlet to bring awareness, speak aloud and demonstrate how to overcome challenges of the unknown we face when raising a child. We all face unexpected trials and as parents, we know from the get-go this gig isn’t all about smelling the roses. They say only the strong survive, and my little girl – you are strong, you survived and you have made your mama stronger because of it.

A butterfly, indeed – The world is yours.

I’d love to connect with other moms or women who are living with or know someone with Turner syndrome in the area. If you find yourself touched by this syndrome, feel free to leave your comments below!