World Down Syndrome Day

Today is World Down Syndrome Awareness Day.  Until last year I might not have even paid attention to this day.  However, almost one year ago, while pregnant, we found out that our son possesses an extra chromosome, you know, designer “genes”.  It’s also called Trisomy 21 or Down syndrome.  All of sudden, we were in the club – and what an amazing club it is!

12 weeks into the pregnancy we had an ultrasound and we were told that he had a large, septated cystic hygroma on his head, excess fluid surrounding his body and that our pregnancy had very little chance of lasting past 20 weeks.  A CVS (chorionic villus sampling) test confirmed Joey’s extra chromosome. 

Miraculously, at 22 weeks we found out that the cystic hygroma had mostly resolved itself and the fluid around his body had mostly dissipated.  Suddenly Joey was starting to defy the odds and have a fighting chance of surviving.

At 24 weeks we learned that Joey has a congenital heart defect that would likely require surgery.  We had multiple echocardiograms throughout the pregnancy and once he was born, his ASD, VSD and leaky mitral valve were all confirmed.  Finalizing his open heart surgery plans is currently underway.

Twenty-eight weeks in, I was diagnosed with gestational diabetes and the fluid that was seen at 12 weeks had returned.  We also learned that fluid was building up around his abdomen and this new diagnosis was “fetal ascites”.  During that visit I received steroid shots to help Joey’s lungs mature because of the possibility of needing to deliver that week due to his excessive fluid on his body.  For the rest of the pregnancy we had 4-5 doctors’ appointments a week to monitor and follow Joey’s progress along.

By 34 weeks we were told once again that we were going to deliver because the ascites had worsened (his abdomen measured about 6 weeks larger on ultrasound because of all the fluid).  Once again our doctor called and said that we were not going to deliver then, but that we would be delivering no later than 37 weeks.  Whew!  To have almost made it this far was an incredible feat given the dire odds we were initially facing.

Finally, at 37 weeks, on August 27, 2010, Joseph David was born via C-section.  After months and months of holding my breath, I finally let it go.  I had worked with my doctor in advance and let him know that I wanted everyone in the delivery room to know how excited we were for Joey to arrive and they were all incredible.  He came into the world crying and weighing 7 pounds, 11 ounces.  He was briefly on oxygen, but did not have to stay a single minute in the NICU.  He was under the bilirubin lights for almost 4 days, but all of our fears of immediate surgeries and Joey not being able to breathe on his own quickly subsided.  For four days we welcomed family and friends who visited, celebrated and welcomed our little miracle son.

This was just the first part of Joey’s journey.  In the past six months, we have had adventure after adventure (that’s my code word for long days in doctor’s offices) and he continues to amaze us every day.

 

One of the things I first learned when I started reading about Down syndrome is that almost 90% of babies who are diagnosed prenatally as having Down syndrome are aborted.  I had no idea.  I struggle with this number and I find it so horribly sad.  Our prenatal diagnosis was definitely sad and as many others who have travelled this road before say—it rocked our world.  But as we go along this journey I realize that the sadness and grief I felt was much more about me and my idea of what my child should be like.  The sadness was based in ignorance and fear.  Ignorance about what having Down syndrome means.  Fear about what his life would be like.  Fear about what my life would be like.  Fear about other kids picking on him.  Fear about people staring at him or not wanting to give him a chance because he looks different.  That is a lot to think about when you are pregnant or have just had a baby.

When I was pregnant I read a book called “Road Map to Holland” by Jennifer Graf Groneberg.  Jennifer is a mom who had twins and found out at birth that one of her sons has Down syndrome.  Her book is incredibly well-written and chronicles the twins’ first two years of life and what living with the diagnosis meant to her and her family.  Her insight was a great comfort to me during my pregnancy.  After I read it, I took the following paragraph from the book and taped it into my daily planner—the passage reads:

            I envision all that she has ahead of her—unwrapping her baby, and recognizing her own long fingers in his. Sweet kisses on dewy-soft skin.  Watching her son sleep on his father’s chest, or in her arms.  Little grunts, tiny smiles, the first coo, a laugh that is so beautiful you laugh, too.  I missed so much of this with Avery, irreplaceable moments lost to sadness and worry.  It didn’t have to be this way.  I wish I had known better. I wish I had known all I had to do was love him.

All of a sudden the prospect of having a baby who happens to have Down syndrome seemed so much easier, after all, I had the easy job, all I have to do is love him.

If I could talk to any of the moms who are expecting a baby who has Down syndrome, or any of the moms who find out in the delivery room that their baby has Down syndrome, I would tell them not to worry—all you have to do is love them.