good genes

We'd been awaiting the phone call from the genetic counselor with the results of our little guy's chromosome analysis.  Well....he tested negative for all the major chromosomal defects (downs syndrome, etc.) so we are rejoicing in that bit of good news.  Thank you so much for all of the thoughts and prayers. 

Today I will

While I am so thankful for all of the smiles and well wishes from people about my expanding belly and the sweet little man inside, there is this little part of me that feels the need to explain his condition.  I wish I didn't have that thought and I always hold it in.  These poor strangers don't need to hear about our medical details, but the thought takes away from my own joy in the moment.  I am making a decision to choose joy.  With each tiny baby kick, I'm reminded of the joy that's growing inside of me. 

We had our first of what I'm sure will be many nervous nelly moments.  I went the entire day without feeling the little guy, so I went in to the doctor to get checked.   After some tense moments of waiting, I felt his tiny feet and saw his heartbeat and we were filled with joy.

Finding Peace

Each day that passes I'm better able to make peace with our situation.  Our unborn baby has a heart defect, he will need open heart surgery, and he may have chromosomal defects, but that doesn't change the love we have for him and each other.

Last summer, Ben and I were so blessed to be able to join our good friends, the Nelsons, at their family cabin in Montana.  Here's to creating that same feeling of peace here in our little home.

Amnio

After hearing the diagnosis, our perinatologist strongly suggested that if we were thinking of doing an amniocentesis, we should have it done right away because of the strong correlation between AV Canal Defect and downs syndrome.  So, Friday, we went in and watched our little guy again as some of his amniotic fluid was extracted to test for chromosomal defects.  Even though our sequential screening results were negative for downs, there is still the possibility of this or a number of other chromosomal defects.  The results take 7-10 days, so lots of waiting around trying to keep our mind on other things.  We find playing with Ben and mindless television definitely help :)

I had to be on bed rest for 24 hours and limited mobility for the weekend.   Thank heavens for parents who still drop everything to care for me and my children.  Ben had lots of fun playing trains with Grandpa, visiting the barber shop and the library and playing at Aunt Cristi's house.  I'm also super thankful for the visits from my sister (bearing movies) and friends.  Thanks girls :)  Turns out laying around isn't really my thing.  I will be taking the week off Crossfit and taking it even easier from here on out. 

We also have a plan in place where I'll be seeing a doctor every 2 weeks.  My OB and perinatologist will be working as a team throughout the rest of the pregnancy to ensure that baby keeps growing and remains healthy.  They said he isn't under stress while in the womb, so that made me feel a bit better.

This picture was taken at about 14 weeks by my good friend Lane Dittoe.

quite the week

What started as a normal week, full of excitement to see the baby's growth, has turned into something I could never even have imagined.  I went in on Tuesday for our 20 week anatomy ultrasound.  She gave me this beautiful profile picture and sent me into the room to wait for my ob doctor to conduct the rest of the appointment.  While I was waiting, I posted this picture online of our "healthy, growing baby boy" and immediately started receiving well wishes.  Most appointments go something like this..."everything looks great, see you next month," but this one started with "Well, there are a couple things that are concerning me".   The doctor went on to explain that there was a part of the baby's heart that they had a difficult time photographing.  It could just be that the baby was in a bad position, but he wanted me to get a fetal echo cardiogram just to be safe.  He also noticed a mass on my placenta and wanted to have that looked at.

I made the fetal echo appointment for the next day with the perinatologist.  In the meantime, I cried, I worried, called a few close friends and family.   I felt so selfish because I was at the ultrasound appointment alone so that I could get a manicure afterward.  I still had the manicure, because somehow the current glitter on my nails just didn't feel right.  It ended up being the time I needed to reflect on the morning's events.  I came to peace with the fact that this is relatively routine and the baby will be fine.

Wednesday morning we stuck with our normal routine of Crossfit and left for the fetal echo appointment.  This time there was an audience with me, Chris, Ben and my mom, as Dr. Pan, the perinatologist quietly performed the fetal echo.  This is basically an ultrasound where they look closely at and measure the heart.  She first went over all the normal anatomy and then studied the heart for what seemed like an hour.  Then, she said it.  The baby definitely has a serious heart defect.  I felt Chris get up and grab my hand, I could hear my mom sniffling, and the rest of the doctor's words blurred together into multiple surgeries, a birth up at CHOC, and a diagnosis of hypoplastic left heart syndrome.  Basically, the baby's left side of his heart was extremely small and non performing its job.  She immediately gave us a referral for a pediatric cardiologist who was thankfully able to see us the same day.

We went to my mom's, cancelled my work obligations for the day, tried to eat, cried, hugged and begged the universe to let our little baby be ok.  Finally, it came time for Chris and me to go to the cardiologist.  That was a tough drive, but thank God Chris is my partner on this journey.  We arrived early, made our way to the specialist's office, watched a little of "Shark Tale" and even giggled at the movie.  Then it came time to perform the fetal echo.  I couldn't really see the screen or even Chris from the position of the bed, so I just stared at the ceiling as the technician took countless images and measurements with guidance from the doctor.  After 45 minutes, it was done and we went into the regular exam room.  Dr. Robelledo confirmed that the baby has a heart defect, but it is treatable and a much less devastating diagnosis than we came in expecting.  Our baby has an atrioventricular canal defect This meant one surgery at 3-6 months old and our little guy would have a normal life.  I never thought I'd be happy about a heart defect, but compared to the initial diagnosis, this we could handle.  There are also a couple of other issues, double outlet right ventricle and a single umbilical artery, so by no means is this a good diagnosis, just better than we originally thought.

We'll be using this blog to update you with all the medical details, since there is just so much information and it isn't always easy to talk about.  Our family has already been so touched by the well wishes, prayers and good vibes being sent our way.  Keep them coming because this will definitely be a long road.  We are so lucky to have such supportive friends and family.