The two words that changed our lives forever - Down Syndrome

I can remember the day like it was yesterday...I had taken my mom, mother-in-law and 2 year old son to a 26 week ultrasound at Yale. This ultrasound was to rule out any heart abnormality, since my older son had a heart defect that had to be surgically repaired, and I also have a hole in my heart. I was so confident that this would be a breeze, (our cardiologist had said we could have 19 more kids and the chance of having another one with a heart condition would be unheard of) that I invited them all  along to see the baby.

 I remember the tech being pretty quiet as she did the ultrasound and then she said, "I see something wrong and need to get the doctor. My heart pretty much stopped, and although I had no clue what she saw, I couldn't help but start crying. What seemed like an eternity later, the tech and the doctor emerged again; he looked over the ultrasound and said he saw a large hole in the baby's heart, and that the baby had sandal toe. He said that his guess would be that our son would be born with Down Syndrome and AV Canal defect. The only way to know for sure would be with an amniocenteses, but that came with risks.

I was practically sobbing at this point. They brought us into an office with a genetic counselor and she gave us so much information about the future, but it's all a blur. I don't remember too many details of the rest of the visit or the drive home, other than being told I still had a few weeks to abort the baby and that he would need major surgery and a lot of help if I chose to keep it. In my head, all I could think was, "this is not what we had planned," "why us," and "what will people think?" I don't want a kid with Down Syndrome!"

That day, I realized why so many babies with Down Syndrome get aborted every year; the way I was delivered the facts made life seem like it was going to be down-right miserable, and the option of an easy life sure sounded good. This was not the life I had wanted and I had the opportunity to basically change my future. Despite really wanting a different life, I knew God had a plan for this baby and our family and no matter what it took, we were going to see this journey to the end.

After that appointment, life quickly changed. I could no longer go to my normal OB (neither did I want to, because at the 20 week ultrasound he somehow missed a gaping hole in my son's heart, so I lost all trust in him) and now every appointment was at Yale which was about 45 minutes-1 hour from our house depending on traffic. At every appointment, we would have an ultrasound and they would take measurements of his arms, legs, nose, and neck fat.  Every time, we were hopeful that maybe they were wrong, and unfortunately at each appointment, they still could not completely say for sure if he would have Down Syndrome or not. We were given so much information to peruse to learn more about Down Syndrome, but neither of us really wanted to believe this was real, so we put it off as long as possible.

I can honestly say that I did not enjoy the rest of my pregnancy. My big belly made it impossible to forget the impending future. We prayed every day for a miracle. We knew if God made this baby, He could change him back to normal. It sounds so silly now, but boy, we prayed hard for that to happen.

Finally the time came; they scheduled me to be induced at Yale the day after Christmas 2010 at 39 weeks pregnant. They needed to make sure the whole team of specialists would be in the room when he was born to take care of his physical needs due to the AV Canal defect. We left early in the morning of the 26th because the Blizzard of 2010 had started and we couldn't risk not being able to make it to the hospital. They ended up not inducing me that day because some of the team could not make it through the treacherous roads, but then I ended up going into labor on my own.

Thankfully we made it through the night and went into the OR to deliver our son the afternoon of Monday, December 27th. This delivery was so different from the cozy room with a soft bed that I was able to deliver my first son in. This room was huge, with only a metal table and so much stainless steel. I remember being so uncomfortable laying on that hard table and looking down to see 13 people in gowns and face masks staring at me. I remember feeling so awkward as they all continued to stare in between contractions. The nurse had told me before we went into the OR that the baby wouldn't be more than 7 lbs because Down syndrome children tend to be small and generally have "failure to thrive." Since my first son was 9lb 3 oz when he was born, I was looking forward to a smaller baby to push out.

I pushed for about 20 minutes and then the baby's heart rate started dropping. His head was almost out, so they asked if they could do an episiotomy, which, I of course agreed to, in order to get him out. One push later and Joshua James was born weighing in at 9lb 6oz. I only got a quick glimpse of him before they rushed him to the NICU, then I started throwing up, probably a result of all the stress and the epidural.

I told Daniel to go and stay with our son, while my parents wheeled me up to my room then went down to meet their grandson. I really wanted to go and see my son, but I wasn't allowed to go into NICU if I was throwing up. While everyone was down meeting Joshua, I had a group of doctors come up to my room to share their diagnoses with me. They were sure of his heart condition, but still not 100% sure of his Down Syndrome diagnosis, so they were going to have a geneticist come and do some bloodwork on both of us as well as Joshua . They said his O2 was low and he would have to be on oxygen until he was able to keep it up himself. They left and I cried. A couple days later we received to bloodwork results, Joshua did have Down Syndrome. It was a rare form called Translocational Down Syndrome, which affects about 3-4% of people born with Down Syndrome. Often this is passed down from the child's parents, but in our case, neither my husband or I were carriers.

The next morning, I walked down the four floors to go and finally see my son. The minute I held him, I felt so many emotions. I was pretty confident he had Down Syndrome, but at that moment all I felt was love. He was perfect and he was mine. I vowed in that moment to do whatever I could for him.

 I pretty much sat in NICU for 2 days until I was released from the hospital and sent home. That was the worst feeling ever, having to leave without my baby. Each day we traveled the hour back and forth to the hospital to bring the breast milk I was pumping at home and to spend some time with him. We also had our son John at home who was constantly being left with family and friends so we could go visit his brother. Emotionally I was torn each day. John didn't understand why we were leaving him so much, yet we didn't want Joshua to be alone at the hospital. The NICU also had a strict policy that one of the parents had to be present if someone else wanted to visit so we couldn't arrange for people to take shifts to sit with Joshua.
 I remember one day, I decided I just couldn't go to the hospital. I hadn't taken time to recover from giving birth and had been up and moving constantly. The exhausting schedule, stress from the whole situation and sadness over leaving John everyday, was catching up to me. A family member called me, unable to understand why I didn't want to go and see Joshua, until I explained, through tear-filled eyes, how emotionally I was so drained from having to choose between both of my boys, and that I just needed a day to be with John. And he needed his mommy.

About 2 weeks later, we were able to get Joshua transferred to a closer hospital so that we would not have to drive so far. Before he was transferred, we were required to get certified in infant CPR and I learned all the signs of congestive heart failure so we would know when it happened. Once Joshua was moved to L&M, John was finally able to go and meet his baby brother. I was so excited to see John with his little brother. I loved the innocence. He had no clue that there was anything different about his brother, and in that moment, I knew that it didn't matter what anyone else thought about Joshua. He was going to be loved by us and that was what mattered the most.

 

 Finally, on January 13th, Joshua was able to keep his O2 saturation high enough to allow us to take him home. What a wonderful, yet scary, day that was. We were so excited not to have to travel back and forth to the hospital everyday, but we knew it was only a matter of time before he would start showing signs of congestive heart failure and we would have to bring him back for open heart surgery.

 For the next 3 months, we basically hibernated in our house. Joshua's immune system was too weak to encounter public germs, especially during cold and flu season, and we couldn't risk him getting sick before his heart was repaired. Daniel would come home from work as a teacher and completely change his clothes before holding Joshua. If people could have seen inside our home, they would have thought I was a germophobe and that I had bought stock in Purell, but we didn't want to to take any chances. We would even take turns going to church, and my in-laws would often take a turn so my husband and I could take John to church together.

Then the day came, in the middle of March 2011, when we realized he was retaining fluid and noticed a blue tint around his lips. He was put on medicine to reduce his fluid retention and we carefully monitored his health at home with the help of the visiting nurses. A few days after he started with the symptoms of congestive heart failure, we met with the surgeon who walked us through what he would do and Joshua's heart surgery was scheduled for the following week.

Stay Tuned for Part 2 - Joshua's Heart Surgery & Recovery