Finding Out

I wanted one more child so Lxkas wouldn't grow up being an only child.  His siblings are 15+ years older than him.  My vision was two little mischievous boys growing up best friends.  Daddy wanted a little girl.  It seems like Daddy always gets what he wants.  When we first dated we had a problem when he expressed he wanted children some day and I told him that didn't fit with my future.  I was done raising kids, as mine were both practically grown.  Two months later I was pregnant with the bear. 

The day I took the pregnancy test for this pregnancy I knew.  It didn't come as a surprise at all because this time it made sense and it was meant to be.  I had no qualms about having another child at 40.  Sure, you hear there are risks, but those things happen to other people.  There is safety in numbers, and the numbers said my chances of having a child with a chromosomal disorder were 1/100.  I didn't even know that number at the time, because it just wasn't a concern.  I know it very well now. 

When the doctor offered the triple screen test I didn't see the harm.  After all, when I'd had one with the bear the results came back outstanding--like, there wasn't a chance in hell anything was wrong with my baby.  I would get the same results.  No worries. 

While waiting for those results I had an ultrasound performed.  Everything looked fine as far as I was concerned; I got pictures of the baby and found out she was indeed a girl.  Daddy was happy.  Mommy was happy, too.  Big sister would have a baby doll to glamorize.  It was all good.

Then the doctor himself called me that same afternoon.  He said they had seen a bright spot in the baby's heart on the ultrasound, and this was a fairly common occurence; could be nothing so don't worry.  I wrote down words coming out of his mouth as I was on the phone with him because you know where I was going when we got off the phone:  Doctor Google.  Echogenic intracardiac focus.  The first clue.  But after reading and reading and finding that the finding itself usually resulted in no issues I dismissed it.  The doctor said a perinatologist would be calling me to schedule a level II ultrasound just to have a closer look.

And then I got the call back about the results of the triple screen.  The nurse said my chances of having a child with Down syndrome were elevated at 1/32.  That caused me a little bit of alarm, but the daddy and I were sure everything was okay.  It had to be. 

The perinatologist took his time calling to schedule an appointment with me.  It seems like it was nearly 2 weeks before I got the call.  But I remember it was a Friday in early November when I went to see him. 

His practice doesn't hurry for anything, I found out.  I waited an hour and a half for my appointment.  I saw the sonographer first.  She was friendly enough, but she had a grim demeanor.  Perhaps it was because she was seeing things that she couldn't tell me.  She didn't tell me much, but at one point she did ask:  "You do understand why you're here?"  I think that was her way of preparing me for the news I was about to receive.  But, it also left me with a less than friendly feeling towards her.

After the ultrasound she escorted me to the consultation room, where shortly after being seated I finally got to meet the perinatologist, Dr. Jones.  I now know that he is only 1 of 2 perinatologists in this area and he is a fairly recent addition to our community.  I don't remember the first words out of his mouth, but it didn't take long for him to cut to the chase:  "I want to convince you to have an amniocentesis, and these ultrasound pictures will show you why."  I had read about the amnio.  I knew there were risks.  I was already against it when I had walked in that morning. 

He showed me the pictures, and he told me what each one was showing.  Each finding was a "marker" for Down syndrome.  The first marker was, of course, the bright spot on the heart.  Then he had found fluid on her brain.  Also, she had a thickened nuchal fold, which is the skin behind the neck, and also considered one of the biggest markers for Ds. And finally, he didn't see a developed nasal bone, another strong marker.  Oh, and she appeared to have at least one club foot which had no association with Down syndrome, as it was more likely hereditary (which I found out later from my mom that she was born with a club foot).  As he introduced each issue I couldn't help but notice he referred to her as "this baby."  I knew what he was doing.  He was disassociating her from me. 

He closed by informing me that her limbs could be measuring slightly shortened, but they were still within normal range.  I don't know why, but I started feeling defensive, so I snidely commented that I was thankful that something was normal with her.  I could see his anger and frustration building with me as he then stated that there "was a lot that was normal with this baby."  He set her odds of having Down syndrome at 40%.  I thought those were pretty generous odds given all that he'd just thrown at me.  I then made the dumb comment that I was more concerned about her having club feet than I was the Down syndrome, and he snapped at me; his voice rose as he told me this was very serious and I needed to have the amnio because there was still time to terminate, or if I didn't want to terminate I could be better prepared.  By then I felt emotionally shook up; everything was coming down on me; something terrible was happening with my baby.  This doctor was telling me she was fucked up.  I agreed to the amnio, mostly so I could please him and be let loose.  They scheduled the amnio for Monday morning.

I was a wreck as I drove home.  I texted Cxdy all of the information I had just been given and asked him (knowing the answer) what he would want to do if Clara had Down syndrome.  He said he loved her no matter what.  I cried.  I knew then that we were going to raise a little girl with Down syndrome.  My world had just changed.

When he got home from work that afternoon I discussed the risks of the amnio with him.  Though it was 1% or less, there was a risk that the amnio would cause me to lose Clara.  We agreed we didn't want to risk losing her so I called and cancelled the Monday appointment and over that weekend my anger toward Dr. Jones grew. 

The following week, I called my OB's office and asked to be referred for a second opinion.  They got me in to see Dr. Blake, the only other perinatologist in the area.  My purpose for asking for a second opinion was not because I didn't believe what I had been told, it was because by now I had read enough to know I was going to need a perinatologist throughout the remainder of this pregnancy and I sure as hell wasn't going to allow it to be Dr. Jones, the man who didn't think children with disabilities are entitled to a life in this world.  Okay, I've built that last statement up on my own, but I didn't get warm fuzzies from him.  His cold fingers were not touching anything to do with Clara again.

Dr. Blake was able to confirm everything Dr. Jones had found, with the exception of the fluid on the brain and the club feet.  To this point there has never been another issue identified with the ventricles of Clara's brain and three other sonographers have not been able to verify a club foot, though they don't deny it's also possible.  We will just have to wait and see.

The visit with Dr. Blake was so different.  She offered me a new-on-the-market alternative to the amnio.  There is now a simple blood test that finds the baby's chromosomes in the mother's blood called MaterniT21 and there is absolutely no risk to the baby.  I had my blood drawn following that first appointment and waited a week for the results, about the same wait time as the amnio.  Also, following the appointment she laid out a plan to me:  If it turns out Clara does have Down syndrome, she would see me through the remainder of the pregnancy, every two weeks, at least, to monitor Clara's vitals.  If Clara didn't have Down syndrome, she still wanted to stay with me to find out what was causing the swelling behind the neck.  I left feeling relief.  I had found someone who was on our side; someone who would care about Clara. 

It took exactly a week to get the blood test results back.  Dr. Blake called me herself.  It was an uneventful call because like I had known I was pregnant before taking the pregnancy test, I knew Clara had Down syndrome before she confirmed it to me.  I thanked her for the call, and she did say that since there was a 1% chance of error I could still have an amnio if I wanted.  I told her that was okay; I was willing to accept this diagnosis. 

And Dr. Blake has been seeing us through this.  Clara is monitored closely--twice a week now.  I've been restricted to bed rest to keep the cord blood flow at a maximum.  After being hospitalized on bed rest last weekend Clara saw a great improvement.  So much that we didn't have to induce labor as Dr. Blake was sure was going to happen.  I know Clara is going to come early, as Dr. Blake has told me she's not going to let me go past 37 weeks, but I'm prepared that this could happen sooner. 

When it does happen, Clara is in good hands and she has a lot of people waiting to give her lots of love.

I'm glad we found out when we did.  It's given us time to learn about Down syndrome, and it's given us time to adjust our expectations.  I can't imagine finding out after her birth.  I can't imagine how I would have reacted.  Would I have been disappointed?  Now, if she didn't have Ds at birth, I almost feel like that would be a disappointment, as strange as that may sound.