Tuesday, September 23, 2014

Pricks, prods and pee cups

I have to admit that when I imagined what pregnancy would be like, I envisioned being able to exhale in a swimsuit, wear stretchy maternity jeans and bask in the "glow" while I awaited my bundle of joy.

Sure the realist in me recognized the threat of cankles, stretch marks, morning (all day) sickness, mood swings, etc...but I was much more consumed by the baby bliss that was to come.

Then I saw two pink lines on the test.  I suddenly started thinking, "Did I take my folic acid every day for the past few months," "how many diet cokes have I consumed in recent days," "do I have remnants of last week's migraine pill in my blood stream?"

Suddenly you realize your body is serving a much greater purpose and yesterday's worries are definitely not the same as today's.

After a couple of days of processing the numerous positive pregnancy tests, a different set of concerns started creeping into my mind.  What if something is wrong with the baby?  Do I want to know that in advance?

As I've mentioned in a previous blog post, my job is a blessing and a curse with information overload.  I have had the privilege of getting to know families whose children have Down syndrome, cystic fibrosis, Batten's disease, Cloverleaf syndrome, Duchenne muscular dystrophy, Neurofibromatosis Type 1, pediatric pulmonary hypertension, Cardiofaciocutaneous syndrome, Erdheim-Chester disease, Friedreich's Ataxia, Apert's syndrome, Alfi's syndrome and Adrenoleukodystrophy.

All of these families are forever imprinted on my heart.  They did not know what God had in store for their children and their family lives, but they walked and continue to walk bravely with faith every step of the way.

They believe in the same scripture I do in Psalm 139:14: I praise you because I am fearfully and wonderfully made; your works are wonderful, I know that full well.

I know most babies are born healthy.  I also know that regardless of the health of the baby, Matt and I would not ever consider abortion and that we would love the child just the same.

One thing I have learned, though, is that medical technology and early intervention can dramatically increase the survivability and positive outcomes for babies who have early health issues.  Some of these issues cannot be detected through the three ultrasounds administered during a pregnancy and parents can be shocked on delivery day to be handed their beloved child who needs immediate medical intervention to survive - or a very different care plan than a typical daycare or in home arrangement.

Buckle in for the pricks, prods and pee cups...

My first doctor's visit in the pregnancy quickly taught me not to potty before going to the appointment.  Urine samples are collected at every visit, testing for sugar (gestational diabetes), protein (urinary tract infections/kidney damage/preeclampsia), ketones and blood cells or bacteria.  These findings are about the mom's health, not the baby's.

I hate needles and was not amused that the first pre-natal appointment also required seven tubes of blood from an arm draw - after I had just forced a potty session on an empty bladder.  Oh, and then five of the tubes didn't get processed correctly so I got to give those again: 12 tubes of blood:)

This blood work determines your blood type, Rh factor, glucose/iron/hemoglobin levels, STDs, Rubella protection and toxoplasmosis infection.  Huh?  Yep, that's what I thought...but in a nutshell, this is still all about what's happening in your bloodstream and whether or not that could threaten your developing baby.

Determining if there is something of concern with the baby requires a different set of tests.  Most people are familiar with the triple/quad screen and amniocentesis.  Something that was news to me, though, is that talking about these screenings is way more sensitive than talking about breastfeeding vs. formula or working inside the home vs. an outside career.  Who knew?

I do now and that's why I want to talk about it...

I knew the line I did not want to cross when it came to getting the most information as possible about the health of my baby.  I am a planner and knew that if there was a way I could have a plan in place for a baby with special needs, that I have the tools to get that going as soon as I could.

The idea of an invasive screening was not something I was comfortable with unless my doctor truly believed that it was the only means to get information that could affect the outcome of the pregnancy.

My doctor is quite possibly one of the most conservative, faith-based OB/GYNs in the area.  He has Christian music playing in each room of the office, does not prescribe birth control and definitely sees every baby as a miracle from God.

I appreciate his strong convictions and know that he sees my baby - from blueberry to watermelon-sized - as a human being made with purpose by a great Creator.

I knew by my third appointment at 17 weeks that if I wanted to have any screenings other than the standard urine/blood samples that I would have to ask for it.  That is exactly what I did one month ago in requesting the quad screen.

If you're unfamiliar with the quad screen, here's what it looks for: AFP (protein produced by the baby), hCG (hormone produced by the placenta), Estriol (estrogen produced by the baby and placenta) and Inhibin-A (protein produced by the placenta and ovaries).

The levels of each of these proteins or hormones is measured to assess your risk for carrying a baby with Trisomy 18, Trisomy 21, neural tube defects, spina bifida and anencephaly.

I knew this screening has a reported false positive rate around 5%.  So, I reasoned there is a 95% chance that if there is a problem, it will be flagged and I will move on to the next step if that is the case.

10 days passed and my cell phone rang one morning while I was editing a health piece (about a sick child...ahhh!) at work.  When I heard my doctor's voice I felt my heart begin to pound.  I knew he would only call if there was a problem.

My results were normal except for my risk for Down syndrome.  The ratio the screening showed was that I was at a four to five times higher risk for my baby having Down syndrome.  While the results were just a screening for the risk, I could not help but ask why my numbers would be off and what can I do to get an answer.

I had three options: do nothing and see if anything is evident in my anatomy ultrasound at 21 weeks, meet with a perinatologist (high risk pregnancy doctor) for an involved ultrasound and amniocentesis, and a new option not many women know about - have another blood draw from my arm to have specific genes analyzed.

Options one and two were not options for me and Matt.  Option three is something that could have been done when I was 10 weeks pregnant, but my insurance would not cover it unless the doctor deemed there was a medical reason to do it.

I now had a reason and I rolled up my sleeve for two more tubes of blood to be sent off to a lab in California for the MaterniT21 test.  It reports positive or negative results for Trisomy 21, 18 and 13.  Other fetal chromosomal abnormalities are reported as an "additional finding."

I was told it could take up to two weeks for the results to come in.  Ugh.  Talk about throwing concerns over my pregnancy weight gain, gender of the baby and the zit on my face out the window!  Matt and I prayed...and prayed to be prepared to accept the results - good or bad.  Our friends and family were super supportive and we are so appreciative of their prayers, as well.

During this wait time between my doctor's call, the blood draw later that day and waiting for results, I reached out to different moms to see if they had walked this path before.  The response was typically, "No, I didn't do the screenings because it would not have changed the pregnancy outcome."

I 100% respect that decision.  My struggle was that it wasn't going to change my pregnancy outcome either.  It was about becoming an advocate for our baby's health prior to the baby arriving and preparing ourselves to be the best parents for this child.

Waiting for the results was no fun.  After a few days I ended up calling my doctor's office to see about moving up the anatomy ultrasound that could detect soft markers for genetic defects and they agreed to see me the next week.

While Matt and I were waiting for the doctor to see us, he popped his head in the door and said, "I was just given your test results and wanted to let you know that everything looks good!  I'll see you in a minute after I wrap up with another patient."  Praise. The. Lord.

Once the doctor got inside, he explained the MaterniT21 results.


It's still considered a screening, not a definitive diagnosis, so amniocentesis was once again offered.  We did not see the need for amniocentesis, as these results are shown to be close to 100% accurate.


We also learned that we are definitely having a baby girl!


I hope that another mom-to-be out there can glean some information from my experience.  Had I known what I know now, I would have skipped the quad screen altogether and paid the out-of-pocket cost for the MaterniT21 test.  My insurance dropped it to $200, but I found out after the fact that the manufacturer of the test offers it at a low cost, typically not exceeding $300.

My belief is that some of the more conservative medical professionals do not offer it as a standard for mommy planners (like myself) because it could potentially lead to an early pregnancy termination if the results are not what the parents-to-be are expecting.

When I talked to my sister-in-law who bravely shared her experience in carrying and burying a baby girl with Trisomy 18, she encouraged me the most by saying, "Don't worry about the questions from others.  You're doing what you think is best and you're advocating for your little girl."

I don't regret for one second going through the screenings just to learn that everything came back fine.  This experience bonded me with Lila Rose in an even deeper way as I prayed for her more than ever, felt her move for the first time and got this ultrasound snapshot with a smile and wave the day we got our test results.  "Hey mom and dad!  I'm doing just fine in here!"


My heart goes out to the parents whose results are not what they expected.  As my sister-in-law told me in my time of fear, "Stop looking at the internet for answers and look at the Bible."  I pray these verses can encourage you if you are in a season of doubt or fear.

Deuteronomy 31:6: Be strong and courageous.  Do not be afraid or terrified because of them, for the Lord your God goes with you; he will never leave you nor forsake you."

Isaiah 54:10: "Though the mountains be shaken and the hills be removed, yet my unfailing love for you will not be shaken nor my covenant of peace be removed," says the Lord who has compassion on you.

Hebrews 13:6: So we may boldly say, "The Lord is my helper, I will not fear.  What can man do to me?"

To test or not to test?  That decision is deeply personal, but I know all of us who are pregnant or have been pregnant before want the same thing: the best life possible for our little ones.

-Britney

2 comments:

  1. Refreshing to know most of us moms [expecting, new, or "experienced" (as if we ever get enough experience lol )] have the same concerns and worries about our babies. Luckily for us it's considered normal... even our daily "meltdowns and freak out moments". Praying for a smooth pregnancy for you here on out!
    With much love,
    Mom of two under age 2, ahhhhhh!
    Lydia Piserell

    ReplyDelete
  2. My experience was so similar to yours with regards to the quad screen.

    Back story: I had tried for 3 years TTC with no luck (doing cycles of fertility meds with my local obgyn and never ovulated), I sought the help of Dr. Storment in Lafayette and we became pregnant via our first monitoried cyle with him. Finally our miracle was in my belly and nothing would change how much we loved our baby!

    But, like you I am a planner. I wanted to be prepared to be the best mother to him/her and know how to care for a child with disabilities or a medical condition if needed be. I opted to take the quad screen when my obgyn offered it. A week later I was in the middle of switching obgyn’s (My current obgyn wasn’t supportive of my drug free/natural birth plan) when I got the news that my results had come back and there was an issue. It was possible my baby could be born with down syndrome, I was so thankful that it wasn’t any of the Trisomies, because I had known a couple that had lost their baby to Trisomy 18 a day after he was born. I was also counting my blessings that I was another day pregnant and baby seemed well. Since I was between obgyn care, my old obgyn just sent me to a maternal fetal medicine doctor to handle my quad results. They would do a higher powered ultrasound that would maybe show that the soft markers were or weren’t there. A week later I had my appointment with the MFM doctor I was so nervous but accepting of whatever the outcome. Unfortunately the day they couldn’t see all the things they were looking for while doing the ultrasound to give me a definite answer. They also offered me the amniocentesis at this time and I declined twice. Then they mentioned a new blood test the MaterniT21 but told me insurance wouldn’t cover it and out of pocket it could a couple of thousand dollars. With all that we had spent doing the fertility treatment with Dr. Storment I couldn’t thought I couldn’t afford to do it. I opted to wait and go back to the MFM doctor in 3-4 weeks and do another higher resolution ultrasound. The wait for the 2nd appointment was awful but it was a great lesson in patience and trusting God. The day of my 2nd appointment finally arrived and I was just beyond ready to know one way or another the results, so I could start preparing for our little girl. Well that day there was a really bad storm that came through and my afternoon appointment was rescheduled for the following week, because the doctor had to fly out before it got too bad. (the MFM doctors flew in once a week to LC to see patients). So another week I waited….it dragged on but the support of my close friends and family helped a lot. The day of my rescheduled appointment with the MFM was here. I had all my close friends and family praying, giving me support and love via text and phone calls. They did not find a single marker but said it was only about 80% accurate because it was an ultrasound. They said they had released me from their care and I wouldn’t have the MFM specialist appointments anymore. Praise Jesus!

    I still researched caring for a down syndrome child throughout my pregnancy just in case but our sweet Sadie was born without it. Either way nothing would change the bond I have with her, she will always be our miracle baby. My faith is stronger than ever before after going through this season in my life – the TTC, the fertility stuff, the throwing up until 21 weeks, the quad screen, etc. I pray and thank God daily for giving us our beautiful, happy, and adventurous 13 month old. Prayers for you and Lila Rose throughout the remainder of your pregnancy. You will be a great mom.

    ReplyDelete