Diagnosis: Trisomy 21
By Nugget's Momma
My husband and I have two wonderful girls. We struggled for years to conceive them. Our oldest daughter took 13 months and a couple rounds of Clomid. Our youngest took 20 months, 8 rounds of Clomid, and two rounds of Injectable fertility drugs. We wanted a third child, so we decided not to go back on birth control after the birth of our youngest.
I found out I was pregnant on Memorial day 2014. We were very surprised I had conceived on my own, but we were excited. I had weekly blood tests to check HCG levels and progesterone since I was on supplements. Everything seemed like it was going well. I had all the typical pregnancy symptoms, and I was looking forward to seeing 'Nugget,' our baby's nickname.
I went in for my 10 week ultrasound to date the pregnancy and it turned out I was 11 weeks along. Everything seemed great, I remember calming down once I noticed the baby's brain was there. I did notice the tech measured the back of the neck a couple times. I asked about it and she said it was the NT fold and my Doctor liked to see it under 3mm. The measurement I saw was 2.22, so I wasn't worried.
I went into the room to speak to the Doctor and the nurse mentioned that my NT scan was on the higher side of normal at 2.7. She said that can mean a higher possibility of Down syndrome and asked if we wanted to do any genetic testing. We had never done any testing with either of our daughters, so I was going to decline once again. I called my husband and told him what they found and he told me to do what I thought best.
The Doctor came in, told me the same news as the nurse. He wouldn't give me any odds and wasn't reassuring at all. He just said I should do the genetic testing to ease my mind for the rest of the pregnancy. I opted to go ahead and do the Panorama*. I had to wait a few extra days since I had the test done right before the 4th of July. I celebrated the 4th and my 30th birthday with family and friends without much worry. I was at a low risk, I was young, already had 2 healthy children, and the scan was on the high side of normal, but it was still normal.
The call came from the Physician's Assistant on July 16th. The baby had high odds of having Down syndrome, a 99% chance. Plus, I found out that baby was a boy. We were finally having a boy, but he would most likely have DS. My husband and I researched everything we could; I looked on message boards, websites, anything to get more information. We both came to the same question, how can we tell how severely affected our baby would be? DS has such a range of disabilities. Kids with DS can have next to nothing wrong and just be a little delayed, or they can be severely handicapped and be completely reliant on us.
We went to a perinatal specialist for an ultrasound and amniocentesis the week after getting the results. The specialist found three main things that concerned him. First, our baby had extra fluid in his lungs, which is typical of DS, so he knew the Panorama test was accurate. Second, our baby's brain was not developing normally, one hemisphere of the brain was less developed than the other. It was a big difference. The specialist said if the brain continued to develop that way, our baby would be severely mentally handicapped. Third, the spine wasn't forming correctly at the back of his neck. We were never told what that could mean, but as I look back, I never saw Nugget move on an ultrasound. I remember seeing an arm move a little as the ultrasound wand passed over my stomach. I never felt him kick before the termination at 16.5 weeks. I'm pretty sure Nugget was paralyzed.
My husband and I had talked about terminating the pregnancy before going to the specialist's office, but needed to know for sure he had Down syndrome. So we opted for an amnio. The FISH results from the amnio came back positive for T21, and we made the final decision that it would be best to terminate the pregnancy. It sounds horrible, but I'm glad we knew that he would have a severe case of DS. At least we would never wonder what life would be like for him, we knew he would suffer and could never fully enjoy life. He would not be high functioning; he would barely function.
We tried to think of everything while struggling to make the decision. We thought about our two girls and how it would effect their lives, if I had Nugget, we would likely spend a lot of time in hospitals away from them. We would sacrifice everything for him, including time with our girls. Knowingly bringing a special needs child into this world would rob our girls of a huge part of the childhood that we wanted for them; it would take away our time, possibly vacations, and who knows what else. My girls would be saddled with the responsibility of for caring for their brother after we were gone. We couldn't do that, so I made the heartbreaking call to schedule the termination.
Being in a conservative state, I had no choice but to go to an abortion clinic. Thankfully, they separated my husband and me into another room where two other couples were there for terminations due to fetal indications. Due to being 16 weeks, I would need to have a 2 day procedure. Day one they inserted some laminaria, seaweed sticks that expand, into my cervix to dilate it. They also injected the medicine into the amniotic fluid to put Nugget to sleep. Day two was the actual procedure. I had no strong pain medication, nothing to sedate me, I was aware of every yank, pull, and pain. It was the hardest and most painful (physically and emotionally) thing I've ever gone through.
My husband and I miss Nugget so much. My heart hurts because we loved him, but I couldn't bring him into this world knowing he'd suffer. We were given his footprints and we have his ashes. I pray that someday I will understand the reasons behind his life. For now, I pray that God watches over him and us.
An angel opened the book of life
And wrote down our baby's birth.
Then she whispered as she closed the book
"Too beautiful for earth".
*Editor's note: Panorama™ testing provides >99% combined accuracy for trisomies 13, 18, and 21 and fetal sex and triploidy. See: http://www.panoramatest.com/ for details.
Our baby boy joined the angels August 8, 2014 He will forever be missed and loved.