Lilypie - Personal pictureLilypie Kids Birthday tickers
Lilypie - Personal pictureLilypie Third Birthday tickers
Lilypie - Personal pictureLilypie First Birthday tickers

Saturday, November 16, 2013

Why We Opted for Genetic Testing - A Catch-Up Post

{I know this post is very long, but I hope you'll stick with it to the end.
This is truly a piece of my heart.}

Ten weeks ago, at our 20-week ultrasound, we found out that the precious life growing inside me was a precious little girl. (We shared the good news here.) What we didn't share at that time was that we had also received some very scary news.

At our 12-week ultrasound, we had a nuchal translucency screening (just as we'd had for Abby and Zach). With a finger-prick of blood and a few ultrasound measurements of the baby's neck, the test results give you a likelihood of your baby having a chromosomal abnormality or major heart defect. This number, looked at in conjunction with maternal age, history of past pregnancies, etc., helps your doctor decide whether s/he should suggest you have additional testing done. With Little Lady, as with Abby and Zach, our numbers came back well within the normal range, so my doctor saw no need to order additional tests. Carey and I were excited and relieved.

However, just 8 weeks later, at our mid-point ultrasound, the doctor performing my ultrasound (not my OB/GYN, but one of the doctors at the hospital) found some cause for concern. Measurements of the baby's neck were borderline abnormal. She gave us several reasons why this could be. First, it could simply be the angle of the ultrasound or the angle at which Baby Girl was laying in my belly. Second, it could be due to her half-Asian lineage, as Asian babies sometimes tend to have higher neck measurements. Third, it could be that the baby had grown more than expected since our 12-week ultrasound, so her neck was measuring larger due to her entire body being larger. And fourth, and most frightening of all, our precious baby could have a chromosomal abnormality or a major heart defect. I remember sitting in the doctor's office as she reviewed these possibilities. I remember my heart stopping as she said the words "major heart defect" and "chromosomal abnormality." I remember hearing her say that, if we decided that we would like to undergo further testing, she could confidently say that there was a "medical necessity" for it, as most insurance companies will only cover these expensive tests with confirmation from your physician that they were necessary. I remember sitting in a private room so Carey and I could discuss our options, and able to do nothing but cry. Flashbacks of 2010 were in my mind. A healthy baby at one ultrasound, and a complete reversal at the next ultrasound. Given, our baby was not dead, thank God, but we were facing the possibility that she might be born with a condition "incompatible with life," and we were terrified.

The doctor explained her suggested course of treatment. Advances had been made in genetic testing. She was suggesting a blood test called MaterniT21. Two vials of my blood would be taken and sent to a laboratory in California. Baby Girl's blood cells would be separated from mine and tested directly. The test would give us a positive or negative result for several of the most common types of chromosomal abnormalities, including Down syndrome, Edwards syndrome, and Patau syndrome. (Edwards and Patau syndromes often lead to severe birth defects and babies who rarely survive beyond their first few months of life...) The doctor also suggested that I have a fetal echocardiogram, a type of ultrasound performed by a specially trained ultrasound sonographer and reviewed by a pediatric cardiologist, to take a very close, very detailed look at the baby's heart.

Carey and I were at a loss. Whatever the results of these tests, we knew that we would not be terminating the pregnancy. I had already felt this sweet girl moving inside of me - how could I even entertain the thought of ending her life? However, after discussing our options, we both agreed that we would prefer to undergo the testing. We had two main reasons for agreeing. First, both tests posed little or no threat to me and the baby. Other tests may increase the likelihood of miscarriage or harm to the baby, but a simple blood test and another ultrasound would not pose a threat to either the baby's life or mine. Second, and most important, we wanted to know. I know so little about Down syndrome and heart conditions - if we were going to be caring for a sweet baby with one or both of these issues, we wanted to be as informed and prepared as we could be prior to the delivery. And if, God forbid, our child did have a health issue that would be incompatible with life, we wanted to know and prepare, rather than be surprised in the delivery room.

Our 20 week ultrasound took place on a Friday, and I was able to see the cardiologist the following Monday. The ultrasound took quite a while (almost 45 minutes), but the doctor was able to give us wonderful news: he saw no evidence of any major heart defects. Praise God! As he went through all of the issues that they check for as part of this test (all four chambers in the correct locations, all arteries and veins in the correct locations, no major holes in any walls of the heart), I was overwhelmed by just how many things could go wrong and overjoyed that all was well with Little Lady's heart. (The only caveat that the doctor gave me was that her heart is still too small for him to view small holes in her heart. After she is born, he suggested that she be monitored by our pediatricians to confirm that there are no heart murmurs. If a murmur is present, he suggested we return to him for care/treatment. But, he said that he saw nothing on the echocardiogram that would indicate that she needed any additional heart tests while in utero.)

While we were, of course, incredibly happy at the news that our baby's heart was healthy and strong, we were still waiting to hear back from the lab regarding our genetic testing. I tried not to worry. I tried not to allow my concern to show in front of Abby and Zach. But my big girl is a smart girl, and she knew that something was not quite right. When Carey and I explained to her that the doctors were worried that baby sister might not be completely healthy, Abby began to pray for her little sister's health, at church, when we said grace before meals, each night before bed. It touched my heart to see my little girl being so loving and so brave, and it helped me cope with the long days of waiting.

Another thing that helped me a great deal in those difficult days was a song. I am a music lover, and I often find songs that speak to me, regardless of the situation I find myself in. Shortly before our 20-week ultrasound, I received my pre-ordered copy of Mandisa's newest album, Overcomer. (You may remember Mandisa from American Idol Season 5.) The title song, Overcomer, has become an unofficial anthem for cancer survivors, as well as anyone who has overcome the odds. I happened to be listening to the CD on my way home from the cardiologist, and I really listened to the lyrics. At one point in the song, Mandisa sings: "Whatever it is you may be going through, I know He's not gonna let it get the best of you." I seriously burst into tears. Not because I knew that God would heal our baby, but because I knew that God had given us the baby we were meant to have. Did we pray that our baby would be healthy? Of course. But, at that moment, I knew in my heart that He would be with us, regardless of what happened with these tests. I am married to an amazing man who is loving and kind and hard-working and goes out of his way to prepare for everything. This baby could have no better father. I am mother to a sweet little girl who has such a loving heart and kindness about her. This baby could have no better big sister. I am mother to a joyful little boy whose smiles light up the room and who hugs can heal. This baby could have no better big brother. I am daughter and sister and granddaughter and niece in a loving family who have cried with us, prayed with us, supported us and shown such love for us. This baby could have no better extended family. As the song said, God would not let this situation get the best of us. He has given us everything that we need to love and care for this child, regardless of what that care will entail.

I was able to go through the rest of my week in peace. Of course, we continued to pray for this little one, but we also prayed for His peace and His comfort for our family. So it was with a calm heart that I answered the phone on Friday afternoon and was given the most beautiful news I could have hoped for: the genetic testing came back negative for all of the abnormalities that were tested. Our little girl is healthy. I just kept saying that over and over again in my mind. I cried tears of joy as I told Abby and Zach. It led to singing and dancing and a very happy phone call to Carey, who was still at work. It led to happy phone calls to family and joyous emails to prayer chains who had been keeping this little one lifted up in prayer. And it led to praise of the Lord, who not only placed a healthy, growing little girl in my womb, but gave our family another gift: the gift of peace, understanding, and knowledge that we are strong together.

{In case you haven't heard Mandisa's song, Overcomer, or seen the video, you can view it here. The video includes guest appearances by Robin Roberts, Scott Hamilton, and Gabby Giffords, three shining examples of what it means to overcome.}

http://youtu.be/b8VoUYtx0kw

No comments:

Blog Widget by LinkWithin