A Change in Worlds

Some people had a change in plans.  We had a change in worlds.

We found out we were expecting in February.  In May, we found out we were having a baby girl!  We had a few ob appointments and everything was going beautifully.  We were excited, making plans, worrying about names and nursery furniture, looking forward to starting our family and dreaming of our future.  "Life is so good" I told myself every morning when I woke up.

At 18 weeks, I had a "routine" quad screen, which is a blood test that most pregnant women will have that screens for trisomy 18, spina bifida/neural tube defects, and trisomy 21 (down syndrome).  I did the blood test, no big deal, until a few days later when I noticed a missed call on my cell phone.  I know that "439" number, it was my doctor's office.  The message said to call back, even gave me the direct extension.  When I called back, my doctor's nurse would not give me any results, she was insistent I wait to speak to him.  I waited.  I could tell something wasn't right.  He said my results came back with probabilities of 1 in 5,000 for trisomy 18 and neural tube defects.  "Sweet" I said, breathing a sigh of relief.  "But Steph, the results for trisomy 21 came back with a probability of 1:10."  I remember that exact moment, feeling like my heart had just hit the floor 1,000 feet down.  He explained that means that 90% of the time everything is fine and that sometimes these tests give false positives.  We just needed to do a "Level 2" ultrasound.  No big deal.  Oh, and genetic counseling (whatever the hell that is, I thought). 

I remember, I was at work, in between my preschool classes.  I sayt in the staff lounge and tried not to cry.  A few people came and went.  Someone asked how I was doing and I lost it.  Everyone said "These tests give false positives all the time" and "Don't worry, I know someone that went through this, and everything was fine".  I texted Joe at work, he calmed me down, told me everything would be ok. 

On the day of our big ultrasound, we had our genetic counseling session.  The lady was really nice, she spent a lot of time talking about the "90%" and that she was sorry we had to go through this, but its was "just in case."  We had a break in between appointments.  I remember, we went to Panera for lunch.  We sat on the patio, eating our over-priced sandwiches, sitting in the sunshine, talking about how everything was going to be just fine and talking about errands we had to run later in the day.  I didn't know that we were just an hour away from a moment that will forever divide our lives into 2 sections: "pre-world change" and "post-world change".

I was a little nervous going into the ultrasound room.  I knew all the things they would be looking for, they called them "soft signs" or "markers" of down syndrome.  They would look at the heart, leg bones, arm bones, back of the head, nasal bone, pinky bone... No big deal, everything will be fine.

We watched her on the screen as the sonographer looked for anything "wrong" (I guess).  I remember, baby girl was moving so much!  We laughed about what a handful she was going to be.  In my mind, I saw her running around the living room after the dogs, laughing and smiling.  I saw her as a teenager, being sassy because I wouldn't let her stay out late...
Anyways, one by one, she checked off those markers:  great looking nose, arms and legs were appropriate lengths, no extra tissue behind the neck.  Now she was trying to look at the heart.  Again, baby was moving so much, she said, it was hard to get a good picture.  The room was quiet for awhile, except for my nervous laughter and failed attempts at humor to break the silence. 

Finally it seemed like she was able to get good pictures.  "All right, we're all set" she said to us.  I remember saying "so, does everything look ok then?"  I will never forget her response.  She said, "We have everything we need" as she got up to leave the room and get the doctor.  I knew right then, somethine was wrong.  She avoided my question.  Joe knew it too (he later told me). 

The doctor came in.  I remember her first words too.  "Well...your baby has a heart defect"  I know she said other words following those, but they are blurry in my mind.  I remember feeling the instant tears burning in my eyes as I thought of my poor little baby girl.  She talked about the defect, that the middle part of her heart didn't form, she called it an "AV Canal" defect.  I think I asked her to repeat that part about 10 times, I couldn't absorb anything.  She talked about the baby needing surgery after birth.  I cried harder.  My poor little baby girl on an operating table?? 

I thought it couldn't get any worse.  Then she told me that this defect was one that was very common in children with down syndrome.  My heart had now dropped so low, it was digging itself a hole in the floor.  I asked how this defect increased my chances, she said significantly.  The probability that our baby girl had down syndrome was now increased to 65%, greater than 1:2.  She talked about more testing.  She said they wouldn't terminate the pregnancy without an amniocentesis.  Holy crap, "terminate"?  How did we just go there???  Ok, rewind.  No way.  I tried to clear my mind and breathe.  We talked about different testing options.  I was terrified of an amnio.  A giant needle into my belly?  Risk of miscarriage?  Oh man...did we really NEED to know for sure?  It wasn't like "terminating" the pregnancy was an option for us anyways.  I had always said I would never do an amnio, but I never, in a million year, would have dreamed I would be in the position I was in at that moment.

We chose to do the amnio.  I laid there with a towel over my face.  Joe watched and held my hand.  I know he was scared too.  We would know results of preliminary tests within 24 hours, final results in about 10 days.  The rest of the night was a blur.  I remember calling my mom and crying the minute she answered the phone.  We knew our chances of downs were high, but we held onto our 35% chance she would not have it.

The next day was my last day of school with my preschoolers.  I remember trying to power through the day and just get it over with.  I was waiting for the phone to ring all day, waiting for those results.  We had a bouncy house for our kids at school that day.  I remember sitting on the side of the bounce house as the kids jumped and laughed.  One little boy told me, "Ms. Steph, this is the most exciting day ever!"  I smiled and told him I was glad he was having so much fun.  Then I sat there and contemplated the irony of his comment.  I knew the day held life changing news.  I just knew it.  At 3:08 my phone rang.  It was her.  The genetic counselor.  I went into a vacant classroom where it was quiet.  "Your results came back positive for down syndrome.  I am really sorry Stephanie.  If there is anything you need, please let us know."  I thought I couldn't feel any worse than I did the day prior, sitting in that ultrasound room.  I was wrong.  I remember the shock...I walked back to my desk in a daze.  But I had about 5 minutes left of class.  I ran into a co-worker on my way to my desk.  I said "can you please go take my class".  That was the point at which the shock turned to the most gut-wrenching pain I've ever experienced.  The tears started burning my eyes.  I remember walking to my desk with other co-workers in tow.  I sat down, put my head in my hands and just sobbed.  I remember saying, "I can't believe this is happening" over and over.  I thought a million awful thoughts.  I tried to picture my baby girl in my mind and I couldn't see her.  She was gone.  I couldn't find her in there anywhere.  The baby girl we had been planning for and dreaming of for the past 18 weeks was gone. 
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 Fast forward.  It's been 2 weeks since our ultrasound.  There have a been a lot of emotions between then and now.  A lot of those are more personal than I am ready to share at this point.  What I want to share with my friends is what we know now in terms of facts:

Our baby girl has down syndrome.  It is also called "Trisomy 21".  Most people have 23 pairs of chromosomes for a total of 46.  Our baby girl has an extra 21st chromosome, for a total of 47.  She also has a heart defect known as a "complete atrioventricular canal defect" or AV Canal defect.  That's something you can google if you want a precise medical explanation, but the way our cardiologist (yep, our tiny little baby girl has her own cardiologist now) explained it was that the middle part of her heart did not form.  Instead of 2 valves, she only has one and there are 2 holes, one between the two upper chambers of her heart and one between the two lower chambers of her heart. 

She will need to have surgery after she in born.  Depending on how well she is able to eat and gain weight, her surgery will take place between 3 and 6 months of age, most likely about 4 months.  The doctor expects her to be born full term "like any other child".  She will have to stay in the NICU after birth.  Her length of stay will depend upon her feeding, as sometimes children with down syndrome will have significant low tone that will affect their ability to eat efficiently.  Because she has the heart defect she does, her heart and lungs will be working overtime.  The cardiologist compared it to running a marathon.  This will cause her to burn calories at a very high rate, making it very difficult to put on weight after birth.  If she is not feeding/eating well after birth, they will not let her go home.  She said best case scenario, she will be in the hospital 3-5 days after birth, but she said that length of time is not typical and to be prepared for an extended stay.  Once she is ready for surgery, she will be in the hospital again about 8 days with a recovery period afterwards at home of about 2-4 weeks (secondary to her sternum needing to heal from the open heart surgery).

The doctor sounded confident about the surgery.  She said this is a common defect and that it is very fixable.  From the way she was talking, you would think this was a routine tonsillectomy or something.  Except for the open heart, bypass machine part.  That's the mommy/worrier in me talking.  I have to hear and have faith in what the doctor was saying and that everything will be okay in the end.  We just aren't to the end yet.

As I said before, there have been a lot of emotions between then and now.  More than I thought I was capable of feeling.  I learned how physically painful emotional pain could be...But on the bright side, I am happy to report that Joe and I are doing a little better every day.  Joe is amazing and supportive.  Our baby girl is so lucky to have him, he is going to be a wonderful father.  I like to say that we are more "at peace" with her diagnosis every day.  It doesn't mean that there aren't dark times, when tears come, and worry and fear invades the normal love and excitement of pregnancy and planning for a new baby, but overall that is happening less and less.  And the normal love and excitement of pregnancy and welcoming a new baby is increasing by the day and exceeding that of which we would ever imagine capable.  We cannot wait to meet her.  We cannot wait to hold her and cuddle her and share our beautiful baby girl with our family and friends.  Our world has done a complete "180".  Having some time to let this all sink in, we know that things are not "worse" or "horrible", they are just different now.  That being said, we feel that we are so lucky to have an amazing blessing like her coming into our lives.  We are so lucky... 

And we are so appreciative of the outpouring of love and support from our friends and family.  The upcoming months are full of unknowns and a lot of things to do to prepare for her and we couldn't do this without the support of our loved ones.  Thank You. 

I will try to keep this "blog" going as a medium for sharing our journey with our close friends and family.  I am sorry if you are reading this and learning about her for the first time.  I have tried to individually contact a lot of people to tell them about our "changes" but it is hard to tell the story over and over, and the news can be shocking, so being able to read about it and absorb it might help people and not put them on the spot for the "right words to say".  There are no right words to say, so don't feel like you have to :)  We just appreciate your love and support in any form.