The Most Common Rare Syndrome You've Never Heard Of

Wednesday, May 1, 2013

Katie Thorstenson--Drew Boo

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….   


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