Waiting for an update...

Well, we saw the Doc. twice this week. The first appointment was an ultrasound at UNC Health for Natalie and the second was for a physical check-up at Rex for Joanna.  During Natalie's ultrasound the tech told us that she would be putting her through 8 physical tests.  I don't remember all 8 of the categories but the tests basically looked at her extremities (arms, legs, fingers, toes) for movement, heart rate, lung growth, etc, etc.  She passed all 8 categories of the test which is a good thing.  It doesn't tell us any more details concerning her overall development and growth but I guess passing any test at this point can be seen as a small victory.  Plus we got some pretty cool 3D images as can be seen in the above picture.  Also during this visit our Doctor (Dr. Goodnight...and yes, that's actually his real name) told us the preliminary results of a test that they were doing on some amniotic fluid extracted last week via amniocentesis called a "FISH Test" (see this article link http://bit.ly/iysZaI for a good explanation of the FISH test).  Basically, the results tell us that they have ruled out Down's Syndrome, Trisomy 18 and most of the more common chromosomal abnormalities.  The FISH is a preliminary test but Dr. Goodnight seemed pretty confident in these results.  So what does that tell us? We're not really sure.  It tells us that Natalie probably doesn't have one of the more common chromosomal disorders but it still keeps Neurological Disorders and/or Infection in the running.  They are running tests for infection but we haven't heard anything back from the Laboratory yet.  As far as the Neurological option, we definitely will not be able to speculate on this option until after she is born and she is tested in the Neonatal intensive-care unit (NICU).  So we're still waiting.  As for Joanna's physical check-up she is healthy and doing fine.  She'd lost about 7 pounds because of the amniocentesis but that was to be expected.  Also during this visit they monitored Natalie's heartbeat and physical movement for 30 minutes and everything checked out ok.  

An interesting thing that we did find out was that Natalie's feet are "clubbed".  I used to think that having clubbed feet meant that you didn't have toes and that your feet basically just looked like a big solid club...thing.  However, I found out that it means that her feet are turned in like "pigeon toes" and turned up slightly.  Her feet basically look like little turned in ballerina feet all the time.  They're quite cute.  The cool thing we found out about clubbed feet is that it's an issue that can be typically corrected 100% through casting and bracing.  I learned also that Kristi Yamaguchi, the Olympic figure skater, had the same type of clubbed footing that Natalie has and she started skating as a rehabilitation exercise for her clubbed feet.  Kinda neat.

So that's our "update while we're waiting on an update...update".  We'll continue to post as we hear new things.  We have 2 more appointments this week and hopefully we'll hear some more news.  Whether it's a good or bad thing we're hoping to hear SOMETHING within the next few days and weeks.

As you can imagine we're pretty worn out from this past week and hopefully we'll be able to catch up on some sleep.  Through this process your kind words and prayers have been instrumental in helping us hope for the best and prepare for whatever might come.

Thanks for being there for us :-)

 

Where to begin?

I guess i'll start in the beginning...

Several months ago, Joanna and I found out that we were going to be welcoming a second child into our little family.  When we found out the news we were as proud as two people could possibly be.  We were like any normal parents preparing for a new edition.  We'd spend countless hours dreaming about our little one.  At first we'd wonder if it was a boy or a girl.  After we found out she was a girl we got to think of a name.  After we picked out her name we got to think about all the fun things that come with expecting and raising a child.  We'd wonder what she'd look like and how tall she would be and whether or not she'd inherit her Daddy's pasty skin tone.  We'd nervously go to all of the scheduled Baby Doctor appointments and get updates on her growth and her health and sometimes we'd even get to see her when the doctor wanted to do ultrasounds.  We checked off every appointment with a clean bill of health for momma and baby.  The first few months flew by.  As the end of the pregnancy was in sight we began to finish up with all the details of decorating her room and buying her ridiculous outfits and ridiculous toys and doing all the ridiculous things that nervous young parents do.  We'd jam plastic plugs into electrical switches and i'd convince myself to not put her mattress on the very top notch of the crib "just in case" she might somehow lunge out of it.  We hung her curtains and we packed her dresser with socks and all the essentials a new baby girl might need.  We were excited to say the least.  We'd now made it to about 7 or 8 weeks until our little Natalie was in our arms.  Just a few more moments of waiting until we'd get to see our dreams of her played out in reality.  We were locked and loaded and ready to go.

But then...

Joanna went in for her regular Baby Doctor checkup and they could see that she had gotten a little bigger than was expected but other than that, she looked good and baby Natalie looked good.  It wasn't a major cause for alarm with the docs or even a stress to us when they told us she was getting a little bit large.  Joanna came home after her visit with the typical news, "baby's heartbeat is good, etc, etc, etc".  Later that week she started noticing that her belly was growing fast and that her back was starting to hurt more than usual.  We just figured it was because she was in her third trimester and she was a little bigger than she was with our first child so her back was probably just a little more sensitive.  Well, her belly kept pokin' and her back kept hurtin'.  She got to the point where she was so uncomfortable that she decided to go back to the doc and see if they could give her some relief.  They told her that it would probably be best if we went over to the UNC center over at Rex Hospital for a detailed ultrasound to check things out a little closer and see what they could do about her pain and maybe see if Natalie was just growing enough to come a little bit early.  So we went over to the UNC center and spent a few hours looking at Natalie.  We were there for a long time.  As we sat there longer and longer we noticed the ultrasound tech seem puzzled as he moved the gooey device back and forth over Joanna's belly.  The tech finished up and said that the doctor would be in to talk with us about a few things.  We waited with anticipation. We were just about to find out if Joanna was going to feel better or maybe even if Natalie might be growing enough to be here a few weeks early!  After a few minutes passed the tech walked in followed by the Doctor and a "Colleague" of his.  The doctor sat down real doctorly-like and said that there were a few things that made him "nervous" about Natalie.  He said he saw that her feet were clubbed in.  This basically means that her feet look like turned in ballerina feet all the time.  He said he also saw that the folds of her brain were not as "folded" as they should be.  Also, he attributed Joanna's sudden growth to an excess of amniotic fluid (which is literally just Baby pee) building up in the womb due to Natalie's lack of not swallowing quite enough fluid.  He told us that these three issues were caused by something larger.  Or basically, these three micro symptoms were being caused by a larger macro problem.

The doctor goes on to tell us that because of the three issues he could see in Natalie that she either has:
1) a Chromosomal Abnormality (aka Down's Syndrome, Trisomy 18, etc.).
2) any variety of Neurological Disorders (ranging from full blown mental retardation to possibly just not being good at Math).
3) some type of Infection attacking her development.

He presented this news with eloquence and professionalism but really what the Doctor was telling us was that the little girl that we'd been dreaming about and planning for all this time was now either going to be heavily developmentally challenged, severely mentally retarded, or that she might die within hours of birth.  AND that although he can't tell exactly which scenario until she arrives he was leaning toward one of the more dire of outcomes.

Our lives instantly changed in that room.  We later found out that the Doctor's "colleague", Betsy, was really a genetic counselor with UNC Chapel Hill and that she'd now be walking us through the next few steps of our lives. She drew pictures on a piece of paper linking up different parts of our families' health and wellbeing.  She even asked if there was any chance Joanna and I were related "just in case" and if we were Jews.  She then explained how chromosomes and DNA worked (although I should have informed her that I had already seen Jurassic Park so I totally understood that already) and she told us about a few common Chromosomal Abnormalities.

After all of this intense talking and listening was over they scheduled an Amniocentesis for Joanna the next day to relieve fluid and to retrieve some samples to test.  We soon left the office, broke the news to our families (which have done a phenomenal job handling the news and supporting us), and went home to stare at one another until we could muster up something coherent to say.

Since then, we've gone through a myriad of emotions. We've talked a lot, Joanna's cried, we've stared, we've prayed, we've laughed and we've run just about every scenario imaginable.  But as the dust of the news has begun to settle we've really been able to come to a peace about what we've been dealt.  We've come to only want one thing.  We just want Our Natalie.  Whether she comes out the way we'd always dreamed about or if she gets here in a totally different package, she'll still be Our Natalie.  We imagine the process to come will probably be a little testing and that is the reason for this blog.  We're hoping to keep our friends and our family informed about what is going on in our lives as we go down this completely different road.  We hope that those that read this blog will help encourage, pray, teach, and love us through this process.

I'll be posting updates on Natalie as soon as I can so keep your eyes peeled.  We're not giving up on our little gal no matter what and we hope you guys will help keep us going.

Thanks,

Lyle, Joanna, Isaiah, and Natalie Sacco