I am sure you have heard it before, and maybe even said it yourself, when something bad happened.  When you got your heart broken.  When you got some news that changed your life.  When you suddenly had to face something that you didn’t think you could handle.

“…it felt like I got punched in the stomach.”

I have felt this feeling before…many times.  I felt a similar sensation two weeks ago, only it was much more intense.  This time it felt more like a punch in the life.  That may not make much sense to you, but it does to me, and that’s really the only way I can describe it.

Here is the story…

On January 3, 2006, my husband, Josh, and I had our first child – a baby boy.  We were young, and excited, and expecting a healthy baby, as most people do.  But that didn’t happen.  (To tell Eli’s whole story would probably take five blog posts – and maybe someday I will tell that story – but today I am just going to brief you on his life, to show you how it impacted us as a family.)  He had many complications at birth, the biggest being a heart defect.  He had open heart surgery at 5 weeks old.  That successful surgery was followed by many other surgeries/procedures, for various issues, most of which were done in the first few years of life.  He has had feeding issues since birth, as well, which led to a gastric feeding tube when he was 17 months (that he still has) – then two stents at an out-of-state intensive feeding therapy clinic in 2008 and 2010, both eight weeks long.  He still eats only mashed foods, and drinks through a straw.  Eating has always been a chore for him – not something he desires, like most people.  All of these medical issues, and feeding struggles indicate that Eli has some sort of chromosomal abnormality, so he has been seen by a geneticist since he was five months old.  He has had every type of genetic testing possible, and still they can not find an answer, even with all of the recent advancements in genetics.  When a new type of test becomes available, the doctor lets us know, we send in his blood, and we get no answer.  Because of this, we have never been able to say, with 100% certainty, that we would NOT have a child with this same mystery diagnosis.  In addition to all of that, Eli was diagnosed with autism in 2008.  Due to developmental delay, and autism, he has been involved in several types of therapies since he was only a few months old – Physical Therapy, Occupational Therapy, Speech Therapy, Hippotherapy, and most recently ABA.  He has had a busy life, to say the least.

I’m telling you all of this not to make you feel sorry for us, or him, and not to make you think we are some sort of super parents.  I’m telling you because I wanted to paint a little picture of what the last nine years have looked like, (in the TINIEST of all tiny nutshells.  His full story is a doozy).  While it has all been fairly hard, we consider ourselves to be just a normal little family.  Our normal may not be your normal, but it’s not bad…it’s just different.  Eli’s struggles have kept us busy over the years, and made us nervous about adding another child into the mix.  The THOUGHT of having another child crossed my mind almost daily, for the last 8 years or so, though most of the time, I just felt like it wouldn’t ever happen.  I even got rid of all of our baby stuff.  I think everyone gave up hope that we would ever expand our little family.

Then one day, that changed.  I swear, it was like I woke up one day and realized it’s what we should do.  I finally felt confident that we could have another baby and everything would be okay.  Josh liked the thought of another child, but there was a lot of fear involved.  To be honest, it took some convincing on my part.  It took months of thinking on it, and letting the possibility sink in.  We HAD to be sure this is what we wanted….   and in the end, it was.  So we went for it.

January 3, 2015, I found out I was pregnant.  Yes, Eli’s ninth birthday.  I put off telling Josh that morning, because I couldn’t believe it.  Then, because he knows me so well, he called me out for acting weird all day, so I told him.  The next few weeks, we were still in shock, and didn’t really know how to feel because we were so scared, and excited at the same time.  We told our family when I was around 7 weeks along.  It was a HUGE surprise for everyone, which made telling people that much more fun.  From that point, it was easier to just be excited.  Everyone was so happy for us, and feeding off it made our fear slowly trickle away.  As our routine 20 week ultrasound neared, I was feeling very antsy.  I desperately wanted to know if we were going to have a boy or a girl, even though I honestly didn’t care AT ALL either way.  I just had to know.  I was also nervous.  I didn’t want any scares, especially since I had been doing so well with staying relaxed about this pregnancy.

The tech that did the ultrasound was quite gabby.  We had her write down the sex of the baby, (so we could do the whole gender reveal in private), and she was very good about having us look away when she was focused on that region of the body.  She checked everything that she is supposed to, and told us that everything looked great… but there was this ONE little thing on the heart that she apparently felt was worth mentioning.  Bilateral EIF.  This is not a heart defect.  Here is the explanation I found online:

Echogenic intracardiac focus (EIF) is a small bright spot seen in the baby’s heart on an ultrasound exam. This is thought to represent mineralization, or small deposits of calcium, in the muscle of the heart. EIFs are found in about 3-5% of normal pregnancies and cause no health problems. EIFs themselves have no impact on health or heart function. Often the EIF is gone by the third trimester. If there are no problems or chromosome abnormalities, EIFs are considered normal changes, or variants.

She and the midwife both said that it’s a tough thing to explain.  When seen bilaterally, it is technically considered a soft marker for Down syndrome, but usually only if it is seen with other markers.  So, they feel obligated to mention it, but can’t really tell us anything more.  Since everything else looked so good, they reassured us that it was just a normal finding, and said not to worry.  We left the doctor’s office, and went to grab some lunch.  We brought it home and opened the envelope with the baby’s gender before we ate.  The picture she enclosed said ‘GIRL’!!  Just as everyone had suspected.  We would have been excited with either gender, so we were mostly excited to finally know.  No more referring to baby as “it”.

That afternoon, I couldn’t shake my uneasy feeling.  I was sort of obsessing over the mention of the bilateral EIF, in my head.  I woke up in the middle of the night, and was up for 3 hours, thinking about it.  I decided to call the midwife the next day to talk to her about it.  She told me I should consider doing the Verifi test, just to put my mind at ease.  (The Verifi test is fairly new.  They take mom’s blood, separate the baby’s DNA, and test for a few of the more common types of chromosomal abnormalities.  It’s 99% accurate.)  I went in the next morning to do just that.  It takes about 7-10 days to get results…. so we waited.

One week and one day later, I got the call.  It was a midwife I had never met that called to give me the news.  She introduced herself, then started the next sentence with “unfortunately”.  I don’t even know exactly what she said.  All I remember is that she told me our baby girl had Down syndrome.  I didn’t cry right then.  I actually almost laughed.  This was totally unexpected.  Was this really happening?  I mean, the chance of having another child like Eli was always there, but a child with Down syndrome?  A DIFFERENT syndrome?!  What were the odds of that?  I hung up with her, feeling like I had just been punched in the life.  Like my world was spiraling downward.  I could physically feel it.  A feeling I hadn’t felt since Eli was born, and they told us that something was wrong.  But I had to call Josh.  I couldn’t lose it just yet – not over the phone.  I calmly asked if I could come by his work, and he asked if everything was okay.  I tried to say that we could talk when I got there, but he knew something was wrong.  He called back 5 minutes later and made me tell him.  As I drove to see him, I completely lost it.  I called my best friend, and lost it AT her, sobbing and spewing out every thought that entered my mind.  I know that probably doesn’t seem safe, since I was driving, but I couldn’t help it, and I desperately needed to get to Josh.  He was waiting for me outside, when I got there.  We immediately embraced each other, and cried together.  After several minutes of hugging and crying, we mostly sat in silence while we soaked in this news.  We were at a loss for words.  I had to get Eli from school, so I left a little while later, and shortly after, he left work for the day.  That afternoon I contacted Eli’s geneticist, and she called to talk to us.  She said that she was certain this diagnosis has nothing to do with Eli.  We had just as much chance of having a child with Down syndrome as anyone else…. Eli or no Eli.  It was all by chance.

The next few days were pretty dark.  We tried our best to keep things normal for Eli, but we pretty much just holed up for a few days.  We broke the news to our family and close friends, and received SO much support and love (and chocolate) – but everyone kept their distance.  We just needed some time to process, and everyone understood that.

To be continued…

I will continue the story, and bring you up to date in my next entry, but I wanted to take some time explain our initial reaction to this news, since it comes across as negative.  Having already gone through so much with Eli, and being submerged in the “special needs world” over the last 7 years or so, is somewhat of a double edged sword.  We know how incredibly rewarding it is to raise a child with a disability, but we also know how scary and hard it can be.  All of the medical issues, (surgeries, doctor appointments, hospital stays), therapies, behavior issues, special ed, IEP’s, and don’t even get me started on thinking about the future.  It is not easy.  And when you get news like we got, that is the first place your brain goes.  All of the fear, the what if’s, the mental/emotional stress, the damage it can do to a marriage.  Eighty percent of marriages fail when the couple has a special needs child. ONE child.

So you see?  Our initial reaction of tears and sadness were not because we were thinking we weren’t getting something as good as a “typical” child.  We went into this thinking that we would get to experience both worlds.  That we would get to see what it’s like to raise a typical child.  Don’t get me wrong.  We are not naive.  We know that we could THINK we have a typical child, then things come up later in life… like autism, for instance.  That is always a possibility, especially for us, since we already have a child with autism.  But we still held a lot of hope of seeing that other world that we hadn’t yet experienced.  I feel like that’s important for everyone to understand.  I assure you that this blog, even the next post, will not be all doom and gloom.  It will be from time to time, but that’s just reality.  So I hope that everyone can read about our experience with an open mind, and maybe learn a thing or two… about a thing or two.  🙂

Until next time.