April 7, 2013 by kruckr
After the initial shock had worn off, we got on with our lives and the process of preparing for a baby. In the beginning, testing for the more well-known chromosomal conditions such as Down’s, DiGeorge and Trisomy 13 and 18 were negative. Our hopes began to soar, for even though we new he’d still have to have at least one surgery to repair his cleft lip/palate as well as continuous monitoring for the heart defect, it seemed like he was going to be just fine.
Getting bigger …
In late-March, we saw my regular OBG and everything with the pregnancy looked great. We also met with Dr. Moon (the ped’s cardiologist) and he said the rest of the baby’s heart looked great and he thought the VSD was possibly a tiny bit smaller than last time. We left feeling pretty happy – that was also Dan’s 31st Birthday!!
On April 2nd, we had our next visit at the ROC. After the usual scans (ultrasounds) were complete we were led into the office of our genetic specialist Brittany. We were told that the micro-testing had finally come back and Henry had some “extra material” on the #1 chromosome, which led to the deletion of some other material. They diagnosed this as something called 1p36 deletion syndrome. We were given an information packet (http://www.rarechromo.org/information/chromosome%20%201/1p36%20deletion%20ftnw.pdf) completed by an organization called Unique. Apparently there are a number of symptoms associated with this disorder (including cleft lip/palate and heart defects), but most commonly moderate to severe developmental delays and learning disorders.
Of course we had both only taken half-days and then had to go back to work with this news and pretend that everything was normal. I even had one of my 8th graders ask how the baby was doing. It took everything I had not to break down then and there. But, cry I did, from the moment I got in my car after work until Dan made me eat something for dinner that night.
We talked and held each other and decided that we were going to do whatever it took to get through this.
The next day, Brittany called and told us that the genetic testing for Dan and myself was normal – meaning that there was less than a 1% chance of this disorder reoccurring in future pregnancies. While this information was relieving, I was and still am not ready to think about having more children just yet. But it’s nice to know that the possibility is out there.
Since (and really before) learning the diagnosis, the outpouring of support from friends and family has been amazing. It is hard to explain something to people that I don’t quite understand myself. The technology that diagnoses this disorder hasn’t been around that long and the amount of information is pretty limited. However, I have found one site http://www.1p36dsa.org to be pretty helpful. It even has a few blogs by parents dealing with this same disorder. Which, to be honest, are both inspiring and scary to read, but it does make you feel less alone somehow.
At this time, neither Dan or myself are making any presumptions about what kind of child Henry is going to be until he arrives AND grows up. In the meantime, we go forward as any new parents do, with future doctor’s appointments, decorating the nursery, looking at daycares, etc.
Let me close this post by saying that one thing I’ve learned through all of this is that there are no guarantees in life. Everyday you wake-up is a day to be thankful for. There is always the possibility of some life-changing event taking place (accidents, sicknesses, deaths, etc.). It is neither helpful or healthy to dwell on all the negative possibilities. We have lifted Henry up to God and know that He will perform whatever miracles He sees fit. All life is precious and I’m still overjoyed and grateful for the life inside me.