November 7th,
2011… and I remember it like it was yesterday. This marks a day that by
far was one of the most heart wrenching moments in my life and never before did
I ever feel that time just stopped and everything else was moving in slow
motion. Before this date, I honestly didn’t invest much thought into this
genetic test because I never thought for a minute something would be
“wrong.” Selfishly, I opted for this test because it was another chance
for me to see my beautiful child live on screen…. Little did I even think of
what could possibly be wrong…. It couldn’t…. I mean why would it????
We were brought
back into the ultrasound room. I was so anxious and excited to see my
little one moving around. As I laid back on the table, the technician began
the ultrasound. It was honestly surreal to see Jake’s little
brother/sister kicking away. She began to point out different parts of my
little one’s body and it was pure joy….. Then, she pointed out what she
referred to as a “halo.” I explicitly remember her saying…. Do you
see this???? Foolish me… in the most excited and pure way says YEAHHHH…
thinking it was something fun… she then follows up by saying… this shouldn’t be
here…. This is fatal… It was in that moment that time stopped… What do
you mean it shouldn’t be there… Fatal… WHAT???? What does that even
mean…. I can still remember that cool feeling take over my body and
I am about ready to pass out…. The technician quickly escaped the room to
go get the doctor and I began to wail. I couldn’t do anything but
sob… I had waited for another baby for what seemed like an eternity and
after a couple years of trying with a miscarriage… WHY ME??? WHY
AGAIN???
The time
following this a doctor sat us in a consultation room and everything that came
out of his mouth seemed so foreign to me at the time. It was a lot of
genetic talks about chromosomes and cystic hygromas, fluid, etc….
Basically, at this point the diagnosis was that my unborn child had a large
cystic hygroma developing at the base of his brain. They described this
as often times due to a chromosomal problem and they strongly advised that we
do a CVS testing to confirm this finding. I was heartbroken… My heart had
been shattered into thousands of pieces and I didn’t even know how to pick them
up. The suggestions they made to me at the time were absolutely
terrifying…
The next week
was a blur. I was immediately taken in for a CVS testing which would
confirm the findings if there was a chromosome abnormality. I immediately
got the FISH results that proved their initial theory wrong… My child didn’t
have any chromosome abnormalities…. I waited for the full panel and also
showed no abnormalities…. At this point it was when I decided I will
leave this in God’s hands. They had given my child a 5% chance to make it
to the 20 week ultrasound…. It was also at this time I decided to find
out if it were a boy or a girl….
This was the
happiest news I had been given to date…. A boy!!!!!!!!! Drew
Michael Thorstenson…. How wonderful did that sound. I now knew who
I was fighting for… A little brother for Jake to love… Another boy to fill this
house with his muddy feet… I couldn’t wait!!!! This little boy was going
to be a fighter….
The weeks that
followed this time period were grueling… Every day I wondered if I would be
able to carry him to term. If it wasn’t a chromosome abnormality… What
was it??? Was it nothing…. Were we all worried for nothing… The
ultrasounds that followed… 14 weeks… 16 weeks…18 weeks…. All were showing a
resolving cystic hygroma… It got to the point that it was almost
non-existent…. In the meantime… we did opt for a full panel of genetic
testing including a test for Noonan’s Syndrome…. Each week… the news kept
getting better… It was the day I turned 19 weeks that I received a phone call
from the genetic counselors department to change my appointment to another
hospital… It was at that point… the last test we were waiting on… I knew it
from the minute I heard them on the other line…. My suspicions were confirmed
moments later… My baby boy had Noonan’s Syndrome… I was a wreck again..
The emotional roller coaster that I had been on for 2 months… The ups and
downs… Everything again came crashing down…. I felt weak again…. And crushed….
This was the
day that forever my life changed…. I was not going to give up on my baby… He
deserved every chance and I swore to myself I would become his advocate and
learn everything I could about this syndrome so he could have the best chance
at anything life wants to throw his way. I studied…. And hard…. I found
every support group that the social media had to offer… I found an amazing
community online on Facebook that I will be forever grateful for… I found this
special network who was nothing but completely supportive of my situation and
sharing stories of their kiddos and some adults and seeing this world I was
about to come into. I would be lying to say I wasn’t scared but if there
was one thing I was…it was prepared…. Everybody always uses the word…
“normal…” I suppose I don’t like the use of that word anymore… What is
“normal.?” I certainly am not “normal…” And it was then when I coined my
favorite phrase… This is my “new normal,” and I was going to embrace the last
of this pregnancy with nothing but smiles and anticipation for my beautiful son
Drew Michael to enter into this crazy and wonderful world….. He had defied all
odds up until this point… He had something to prove… and I couldn’t have been
more proud that God chose me as his mommy….. This little being had already changed
me…. In ways at the time I couldn’t even begin to comprehend…. And I was
excited… Sooo excited….
Part 2
Finding the inner strength you never realized you had….
The time was
finally upon us… The anticipation of carrying a child with a syndrome that you
can’t quite yet grasp was undeniably difficult. The spectrum for Noonan
Syndrome is so large that you truly are unaware of how your child will be
affected and there are times that the unknown is a scary place. But with the
support and friendships that I had already built proved invaluable…. And
truth be told, as I mentioned in Part 1… We chose this…. We left it up to our
faith and God who chose us to be this little guy’s mom and dad and that was a
deliberate action and I now get it… I might not have at the time, but gosh do I
understand why we were chosen NOW!!!! Our life was forever changed by
this amazing little boy who has so much fight, and is such a strong and
inspirational little boy.
I was scheduled
for an induction on May 21st, 2012 with the understanding that I
would likely give birth to our baby boy sometime on the 22nd. It
was such a special day because this is also my mother’s birthday. My mom
is my best friend and I feel so lucky that Drew shares this day with her.
After some long, tortuous hours, it was finally time to have our baby….
Drew Michael Thorstenson was born at 7:20PM… Shortly thereafter, I went
into a state of shock…. All I wanted was to hear him cry and I was so consumed
by the emotional roller coaster that we had already been on… I just remember
everything flashing by and the anxiety that I had as he was being whisked away
by the doctors and nurses. It was one of the most terrifying experiences I had
ever encountered…. For fear that I will sound shallow, I was worried as to what
he would look like, but more importantly is his heart okay because 80% of
Noonan’s kiddos have congenital heart defects. There was so much emotion
built up to this moment I couldn’t even process anything…. I was honestly the
most scared I have ever been. Can I handle this??? Will I be able
to tend to his special needs?? So many thoughts and questions that seem
so silly now but at the time were so raw and real.
After several
hours of recovering I finally was taken in to my recovery room. Drew
Michael was brought in to our room and I just remember gazing into those sweet
precious baby blue eyes. I was consumed with pure love and joy and if there was
a second I questioned anything, it was that moment that reaffirmed everything.
After some extensive testing, we were surprisingly released from the hospital
the normal 2 days later. His ECG had shown some mild pulmonary stenosis
and also an ASD that would be closely monitored by the Lurie Children’s cardiac
department and other than that, we were blessed with a wonderful little
boy.
The first few
weeks were certainly tough and extremely frustrating from an eating
standpoint. While Drew was born 8lbs 11 oz… he wasn’t in any way shape or
form gaining any weight. Noonan’s kiddos have a tendency to have FTT
(Failure to Thrive). While we understood this a little, it definitely
didn’t make us feel that much better. We really wanted to figure out a
way to help him as best as we could.
It was during a
routine ECG when Drew was 2 months old that will forever be etched in my
memory. My sister in law Jackie joined me as these appointments can be
quite long. She was there for much needed support to keep me sane. The
appointment was unusually long. During the ECG the technician saw what
appeared to be fluid surrounding Drew’s lungs…. I remember vividly the
doctor asking if he had been sick, or anything unusual. He absolutely
wasn’t sick but as a precaution Drew was sent to get a chest x-ray. Once
we did the chest x-ray we went back into our room to wait. Later the
doctor came in to let us know that the preliminary results were negative for
plural effusion and pneumonia. She sent us on our way. It seemed to be a
lot of anxiety for nothing.
While it was a
long and emotional appointment, I was glad to have my sister with me and we
left the hospital to go hang out with Jakester and my niece and nephew,
enjoying the last parts of summer vacation before I had to go back to work…I
can remember it like it was yesterday…. My phone rang while I was waiting in
the parking lot at Jewel while Jackie ran into grab a few things…. It was
Drew’s cardiologist. The words that came out next seemed like a bad
dream… She began to say that I don’t know how to say this but the preliminary
findings on Drew’s chest X-ray were incorrect. We believe that he has a
small plural effusion surrounding his lung and we need to admit him immediately
down to Lurie Children’s hospital. TIME STOOD STILL!!! I hung up
and the waterworks began like never before. I broke down in tears in
frustration and just pure anger that this went misdiagnosed… That my emotional
state was being tested yet once again…. When my sister in law came back to the
car, I don’t believe she knew what could have possibly happened. I was so
distraught and trying to explain to her that there is something seriously wrong
with my baby… WHY is this happening???? How could the radiologist miss
this??? It all didn’t add up and I was just so incredibly sad and felt so
defeated… I was crushed…
I composed myself
and went back to the hospital to be transported via ambulance down to a place
that I had only seen in a magazine, “Lurie Children’s hospital.” They had
opened these new doors a little over a month before the date that Drew was
admitted… It was July 24, 2012. It blows my mind on how my story
had just begun the minute that we were rushed into this place…..
This place has
forever changed my family and I and has played an instrumental piece in this
puzzle I call life….
DISCLAIMER:
The article above was written by a guest blogger. The opinions and ideas written belong solely to the guest blogger. Noonan Syndrome Foundation DOES NOT endorse political candidates and religion or religious preferences.
This blog
is provided for moral support purposes only. This blog is not a substitute in
any way for medical advice, diagnosis or treatment. Always seek the advice of
your physician or other qualified health provider with any questions you may
have regarding a medical condition. Never disregard professional medical advice
or delay in seeking it because of something you have learned from this blog.
The
Foundation does not recommend or endorse any specific tests, treatments,
physicians, products, procedures, opinions or other information that may be
mentioned in this blog. Reliance on any information provided by the Foundation,
Foundation volunteers, staff or guest blogger/s is solely at your own risk. You
should not rely on information you receive from or through the blog for any personal,
medical or health decision, but should consult with a qualified professional
for specific information suited to your family member’s case.
