During the first two trimesters of pregnancy, some of the
standard blood tests include a two part genetics test. This test will let you know if your baby has
an increased risk for common genetic defects.
About a week after I had finished the second part of the test, I
received a call from my doctor’s office asking me to come in later that day to
go over the results. I begged her to
give me more information on the phone, but she said the doctor would speak with
me about it when I got there. After I
got off the phone I had three hours before I was due in at their office.
Three hours! Three
long hours of fear, crying, and complete and utter panic. So, I did what any woman would do who is
married to their best friend. I called my
husband at work. Bless his heart! Not only did he manage to calm me down
slightly, but he also came rushing home from work so he could be with me at the
appointment. I don’t know what I would
have done without him.
When the doctor told us the news, it felt like my heart
stopped. My test results came back with
an increased risk for Down’s syndrome. I
could feel the tears running down my face, feel my husband squeezing my hand,
see the lips of the doctor moving, but couldn’t hear what was being said. I held my hand up and just focused on trying
to breathe. A few minutes later I had my
breathing under control, though the tears wouldn’t stop coming. I asked what the next step was. The doctor explained that I would have to see
a specialist for further testing in addition to seeing him for my pregnancy
checkups. We discussed the various tests
that might be done and what they would do at the appointment. As we were getting up to leave, the doctor
stopped me and said she didn’t think I had anything to worry about. I asked how she could be sure. She said she couldn’t be, but that typically
babies that have Down’s syndrome have slow, almost lazy movements during an ultrasound,
not the fast movements that my baby has been doing. I squeezed her arm and informed her that if
she would have started the appointment with that tidbit of information it might
have gone a little bit better.
Anyways, once home I started doing research. I am the type of person that likes to be
prepared for everything. As I always
say, prepare for the worst, that way when it doesn’t happen you are pleasantly
surprised. But if the worst does happen,
you will at least have a plan of action instead of being frozen in the moment
unsure of what to do.
By the time the appointment with the specialist came around
a week later I felt fairly confident with the information we had learned. At least confident enough to feel I wouldn’t
be blindsided by anything. First step
was to see a nurse to give more blood and go over our family history. Then we had to meet with a genetic counselor
to go over what Down’s syndrome is and what our options were for testing
further. Next, we had a detailed
ultrasound to measure the baby and get a firm idea of the due date. This was by far our favorite part. The baby was moving all over the place! The tech even said she couldn’t keep up with
the baby to get an accurate measurement.
Last, we met with the doctor to go over everything. By the time we were in the room with him I
was feeling much better since the baby had been VERY active during the
ultrasound (which is the opposite of a baby with Down’s syndrome). However, he had a different curve ball
waiting for me.
He said that since my blood pressure was elevated during the
delivery of my previous child (only 17 months ago) and since it became elevated
at the beginning of this pregnancy, that he wanted me to go to the hospital for
an EKG and echocardiogram. Also, he
wanted me to do a 24 hour pee test and submit that to the hospital as well so
he could check my kidneys.
Wow, okay. That came
out of left field. So we saw the nurse
again to schedule the appointment with the hospital. She hands me what looks like a small gas can
and a white bucket thingy you’re supposed to put in the toilet (but if you turn
it upside down it looks like one of those old school nun hats with the big
flaps). Next she hands me the order for
the tests with the appointment time. In
the line for diagnosis is written Chronic HTN.
I asked the nurse about it, wondering if it shouldn’t be Gestational HTN
(high blood pressure during pregnancy) instead of chronic. She said since I had it before with the
delivery of my daughter that it shows a trend which makes it chronic. Umm, ok.
Off we go. I collect
my pee for a full 24 hours (so not fun when you have to go every 20 minutes)
then to the hospital I go for the testing.
The echocardiogram was neat. Its
basically an ultrasound of your heart.
Afterwards I asked the nurse if everything looked okay. She reluctantly told me that everything
looked picture perfect and I had nothing to worry about (they aren’t supposed to
tell you anything, hence the reluctance).
Also, the EKG showed perfect rhythm in all chambers. Yay!
A week and a half later I got a voicemail from the
specialist’s office asking me to call them so we could go over the genetic test
results. Of course, I didn’t get the
voicemail until after they were closed, so I had to wait until morning to call
them back. I told my husband about it
and we were careful to put it out of our minds and avoid that topic of
conversation for the rest of the night. It
wasn’t easy, but I managed to get some sleep that night.
I called their office first thing in the morning and was
told that the test came back negative! No extra chromosomes or signs of any genetic
abnormalities of any kind. Oh, and by
the way the baby is definitively a girl!
It felt like I could breathe again for the first time in a month and a
half! It was such good news! I started crying again (yay hormones!) but
this time they were happy tears.
So, now that I have good news to share and hopefully no more
worries with this pregnancy, you can expect to be hearing from me more often.
That was very moving. Emotions all over the place ,and I know how difficult it was ..
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