Tuesday, August 28, 2012

The Intersection of Faith and Science

On August 6, 2012 we had our 20 week ultrasound. We learned that our baby is a boy.

We also learned that he had either a completely absent or extremely small (as in microscopic) nose bone. Upon hearing this, I went into freeze-mode. I remember asking a few questions and attempting to muster through the doctor's discussion, but I really didn't comprehend everything. As soon as my husband and I were left alone, I burst into tears. I knew this was not a good thing. The doctor (a perinatologist) said this generally lends itself to some sort of genetic abnormality. I heard Downs Syndrome. We rejected the genetic counseling we were offered. We needed to process this on our own. We had refused all earlier genetic blood testing, because it would never have effected our love for our child. We are not the type of people who terminate a pregnancy, for any matter. We believe in God and we believe that life starts at conception and it is sacred.

I must reveal that I have never felt completely comfortable with this pregnancy. Those closest to me know that I have had many fears and "off" feelings since the beginning. Hearing that our son has a nose bone problem only validated my anxieties. I would learn a few days later that our son's "odds" of having Down Syndrome were one in twenty-eight. That's about a 3.5% chance. Really, not that high, but considering I had a bad feeling and an average person my age has a 1/1500 or so chance, that's a very, very, very high increased risk. Was there a chance we were part of that 96%? I didn't know, but of course I hoped.

In case you are wondering, about 1% of babies with a missing nasal bone at a 20 week ultrasound are born with the typical amount of chromosomes.

We returned home after our ultrasound; confused, scared, and mostly shocked. Why was this happening? How was this happening? I cried a lot. I was scared for our son. I was scared for us. I was scared for G, and what this may do to our family.

We probably could have kept it to ourselves, but my sister was at our house for another night, and there was no way I could keep a straight face. We'd eventually tell several family members and a few friends. I especially needed to talk about it. It helped me process everything.

After putting G to bed, I collapsed into our couch in tears. My husband was in the shower. My sister probably didn't know what to do, but she did her best. I honestly tried to hold the tears off, but it was just too much. I eventually got it together and falling asleep wasn't that hard because I was so exhausted.

I woke up around 2 am, sobbing. I had no clue what to do. I was like a deer frozen in the headlights, waiting for some car to crash into me.

No one wants to hear that their child might not be 'typical.' When you become a parent, you want the best for your kid...no matter what that means for you. I would much rather have heard that I had cancer, than hear my son may have a genetic abnormality. I would learn over the course of the next day that Down Syndrome is not a death sentence for any party involved, but it does have it's health complications. I also learned that there are therapies and educational tools that are much advanced from years past. Children with Down Syndrome today have a lot more going for them that those born even just 20 years ago. That's not to say that adults living with Down Syndrome today aren't able to be mostly independent, it just means there are even more possibilities for babies born today.

Did that help me process the grim prognosis? Maybe a little bit. The hardest part, though, was that missing a nasal bone is not a definitive diagnosis. It is simply a strong marker for Down Syndrome. We were in this very gray area, and I am not a fan of the unknown. Who is? Especially when your baby is involved!

I could not imagine going through the next 20 weeks not knowing. The doctor suggested an amniocentesis. I knew right away the risks involved with that. Our perinatologist claimed their practice's rate of fetal loss is 1/1000. I was not willing to take even that risk. Did I want to? Yes. Could I live with myself? No.

Thankfully, I poured over pages and pages of internet information and mom-forums. Thank God (more on Him in a minute) for the internet and technology. I read of a test on the cutting-edge of genetic-testing technology. A lab would draw two vials of blood from my arm, analyze it for cell-free DNA (re: fetal DNA) and detect any trisomies for chromosomes 13, 18, or 21. Those are the three most common genetic abnormalities, with T21 being Down Syndrome. As soon as I read about this test, I instantly felt better. Even though it is only 99.999% accurate, that's way better than the risk of miscarriage or the anxiety of not knowing anything for 20 weeks.

I hurriedly made a genetic counseling appointment. Something I truly never thought I would experience. My husband came home to watch G. I was really bummed when I had to wait until the next day for the test. Friday, August 10, G and I drove 45 minutes from our home to the lab "most experienced with these types of tests." I had a little green kit in the diaper bag, handed to me by the perinatologists office. The contents of it made up the new Harmony Genetic "Screening" Test. After having my blood drawn, I tried to forget about how long it would be before hearing results. August 20. That was the day.

My husband and I did our research about the complications that can arise in the first few hours, days, weeks, months of the life of a child with Down Syndrome. The information we learned was scary. Almost half need open heart surgery in the first year of life. Many have problems with their digestive system. There are vision and hearing issues to worry about. The list goes on. It is not simply a mental or developmental-delayed "problem." I was so scared for our son.

That's the science road.

The faith road is simple.

We are people of faith. We are Catholic and we believe in prayer.

Did I ever pray for my son not to have Down Syndrome? No.

I learned a long time ago that praying for something specific often leads to heartache and questioning God. Neither of which is beneficial to anyone.

While people around me said they had hope and said we would be fine, no matter what; I silently and sometimes audibly prayed for the ability to accept whatever God's plan for us was.

I sincerely meant it. If God wanted us to parent a baby born with Down Syndrome, I knew we would succeed at it. We are a strong family, we have decent financial means with good insurance. We have a good support system. We are strong people, individually. My husband and I are the type of people who do not sit in silence. We make things happen. I felt very strongly that we were put in this place to do God's work, whatever that may be.

My tears were few after the initial shock wore off. I was still tremendously scared, nervous, and worried. I knew I couldn't change it, and like Mary, Jesus' mother, I simply said yes to whatever God willed.

Is that a hard thing to do? You bet. I know many of you would have handled the situation the same, so I know I'm not preaching to deaf ears. But please know, this has been the hardest three weeks of my life.

It is extremely difficult to carry on, with pregnancy hormones, toddler-parenting woes, and far-from-family saddness. I have not been nearly myself lately. I've had plenty of happy times, and I accepted that our son probably had Down Syndrome. I picked up the pieces and moved forward. I wasn't even that nervous as August 20 approached. The morning of that Monday, I was a ball of nerves, though. Patience is so hard.

I was exhausted from carrying around such weight of anxiety for my son's future...our family's future. I truly tried my hardest to be strong. After hearing nothing Monday or Tuesday...I had a breakdown Tuesday night after my husband mentioned how adorable G is. It's nothing out of the ordinary for me to hear, or even comment on, how dang cute she is. I mean really....you all have seen the pictures.

I started sobbing and sobbing because I feared people who don't know us would look at our daughter and look at our son and instantly feel sorry for him. I feared people would judge him and while I don't care what other people think...I certainly didn't want him to feel like less of a person. I worried for his future and how G's potential success in "normal" areas of life would affect him.

My husband has been my rock through this whole thing, he consoled me that evening and the next day we went on our little vacation. It was much needed. We continued praying, but tried to put it out of our mind so that we could enjoy our trip. Potentially our last real vacation before possibly becoming parents of a special needs baby. Certainly not the end of our lives, but definitely the end of our lives "as we knew it." It's such a weird feeling. For that, I am envious of the parents who don't know anything is different until their baby is born. But that could never have been us after that regularly scheduled 20 week ultrasound. It's the one nearly everyone has, even if they aren't finding out the sex of their child. How were we supposed to know something would be "wrong?" God clearly had a plan for us to see that. I just felt His hand in all of this and knew that when our results came back, I'd be correct in my assumption that our son has Down Syndrome.

We returned from our trip on Friday, August 24. We still had not heard anything. I called the office. They called the lab and called me back. We would know our results the following Monday (yesterday). The lab said they had to do more work on the sample before reporting results. That definitely did not sound good. I tried to be optimistic, but still my faith in God brought me to accept whatever happened.

The genetic counselor called yesterday. I had her leave the results on my voice mail so that my husband and I could listen to them together after we put G to sleep. That seemed like the most unified thing to do...and that's what my husband and I strive for; a unified marriage. It may not always be happy, but as long as we are in it together, we will survive. It was hard, knowing the results were just sitting there, waiting to be listened to, but it wasn't as bad after the first hour or so. I knew that I would be at peace, no matter what, just knowing would help us move forward and prepare for our son's birth.

Last night, we prayed and then listened to them. I had tears welling up in my eyes, and I could hear my husband's heavy heart beating.

"This is Stephanie....calling with good news regarding your Harmony test results."

Everything stopped. I knew what would come after that. I knew we had experienced all of the anxiety of the past three weeks, only to be told that my blood work came back with a very slim chance for Down Syndrome.

I was not very excited. I was happy, but definitely not 'thru-the-roof' or 'over-the-moon' with excitement. I felt shock all over again. My husband still felt a knot in his stomach.

We discussed things, like why God would have us experience all of this, only to have our blood test come back with a 1/10,000 chance for Down Syndrome. Those "odds" are better than any joe schmoe who is pregnant, so it's basically interpreted as a negative, but because the technology is so new, Harmony is not considered a diagnostic test. (The only real chance of a false-negative is if our son has Mosaic Down Syndrome in 33% of his cells, which is very rare and is typically a much more "mild" form of Down Syndrome)

We also discussed how our happiness is completely overshadowed by empathy for parents in our position, who hear the opposite result...or have no indication anything is wrong...and are bombarded with "bad" news from early pediatricians. I know that parents of special needs children absolutely love their kids and wouldn't trade them for the world. I also know that their lives are very hard, emotionally and physically.

Life is very short. We are not in control. If this experience has taught me anything, it is to take absolutely nothing for granted, and to continually trust in God's plan, whatever it may be.

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  1. Thank God!!! I've been praying every night and day for this good news..we love you and your family soooo much...Nana

  2. So proud of you, friend! We're still sending all our love and prayers to you and your family, and we can't wait to meet your little boy, whoever he'll be!! <3 <3

  3. wow...so glad the result was what it was. Faith can be hard but I love when people really believe w3hat they say they believe. Good job...very well written too. :) DLC

  4. Thanks for sharing so candidly. I will definitely pray for you and your family. God means everything for good and he will work this out for His glory either way. :-)

  5. I am so glad you have the gift of knowing and can stop being in limbo. I know you will be an amazing mom to your son no matter what his needs are. I think there is definitely a reason God gave you this experience, and it will be a gift in the future. I know for myself that I felt I had hit rock bottom when I had to apply for food stamps after I graduated from college. I cried and cried and felt like my life was over. Now, I volunteer at a legal clinic that helps people who are on government benefits and I feel like my first hand experience allows me to be a better advocate for them and I am thankful I had it. Also, I am not sure if you are up for it--but my housemates and I are having a brunch this Sunday and it'd be so wonderful if you, Justin, and G could come. My friend and her son (who is a year old) will be coming as well as lots of other law and graduate students. Would love to see you!

  6. Your faith in God's plan throughout this situation is inspiring! Praying for you and your sweet family!

  7. why didnt you use the maternit21 test? did you know about it?
    my friends used this test to to better data. it can also be used for twin-pregnacies and you can choose if you want to know the gender !

    1. It was mostly because the peri's office I went to preferred the Harmony test over MaterniT21. MT21 is by a more shady company, in my opinion, from doing research. I wouldn't trust the results from them as much. I don't have a twin pregnancy and we already know it's a boy. To each their own....but I don't like a lot about Sequenom CMM (the lab in charge of MT21).

      For anyone else reading, the two tests are very similar but made by two different companies with slightly different methods. There is also a Verifi test that is along the same lines.

      Our insurance, United Healthcare, covered our test at 80%, so our out of pocket was very small (less than $200)....whereas Maternit21 was hundreds of dollars higher.

  8. I would recommend talking to Kathleen Basi (http://kathleenbasi.com/blog) as her daughter Julianna was born with DS.

  9. Wow. Thank you for sharing the ups and downs of you and your husband's courage. I seem to be well past the child bearing age, but I really empathize with your story and your fears. Your confidence in God will see you through the coming years! The uncertainties seem to increase with time, age or technology; but they're nothing more than what you've had already!

    Hope springs eternal. May God grant you a safe and easy delivery and a wonderful life with many saints!

  10. That was such an unbelievably beautiful post! Praying for you and your family. May God give you and your family peace.

  11. I came over from Catholic Newlywed.

    Please know that I am not trying to downplay your fears and worries with what I have to say. I know that I would grieve if I had a child with DS, but I would also be excited, I think , for what this person would bring to our family.

    I have a brother with DS. He is 21 years old. When I was a small child, I used to pray for him to be healed. In my naivete, I beleived that God could just make his Downs' go away. As I got older I knew the miracle I was asking for would not be granted, not because God could not do it, but because that extra chromosome is part of what makes my brother who he is as a person. It's part of his uniqueness. Without it he wouldn't be himself. He is a fun, happy person who loves the Hardy Boys, his volunteer jobs, and is very active in Boy Scouts. My children love playing with him. He had open heart surgery at 11 months old, but his heart is perfect now. He's strong and healthy-healthier than some of my 'normal' siblings.

    I hope your fears and worries ease and you are able to approach your son's birth with the same joyful anticipation you would any child. Life with a speicial needs child is different, surely, but it's not bad. It's just a gift of a different sort.

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