We were expecting our 5th child, yes 5th! All of our other pregnancies had been pretty uneventful at least until it was time for the babies to be born (but those are stories for another day). Life had taken a very unexpected turn, and everything seemed to be getting extremely complicated. I was 34, my husband 37. I was diagnosed early in the pregnancy with gestational diabetes so it was not surprising that the doctors were watching me a little more closely.
When I was 12 weeks pregnant they sent us for what they call a anatomy scan. They check the babies growth, features, and then do a measurement of the nuchal translucency test. In laments terms this part of the scan measures the clear (translucent) space at the back of the baby’s neck. Babies with abnormalities tend to accumulate more fluid in this space. From the look of our scan our baby’s looked typical but she wouldn’t stay still long enough to get the required machine measurement. This paired with the fact that I had Gestational Diabetes and I would be 35 at the time of birth made me eligible for further testing commonly known as maternal, fetal DNA testing. The actual test I was getting was known as Verifii, but there are others known as Materni21, Harmony, etc. I got the blood drawn never even considering that my results would be off in any way, how could they? I had 4 perfectly typical, healthy babies already. I couldn’t have anything wrong with one of my babies.
Around a week later I got a call from the doctor that had done my untrasound, and had us get the Verifii test. I answered, and she said “Mrs. Martin, we got your test results from the lab, and it is showing positive for Trisomy 21, uh Down Syndrome.” Having seen other women discussing test results in the momma groups I was in I had noticed that they all had a result like 1:100, 1:1000, 1:10, not positive or negative. My brain was reeling, I wanted to know my odds. Did my baby definitely have Down Syndrome? I asked, her response was less than satisfactory. “I’m not sure Mrs. Martin, it says positive and that the test is 99% accurate.” We talked in circles, all I kept hearing was that it was 99% blah blah blah. Her final statement was that we should seek genetic counseling.
Call ended. I couldn’t hear anything except the hammering of my heart in my ears. My chest was tight, and there were spots of light in my eyes. Full blown anxiety attack. My only true reference of Down syndrome was Corky from an 80’s family show called “Life Goes On”. I tried rather poorly to explain the phone call to my husband. We did a ton of research on the test, which showed that these type of tests the Verifii in particular have a large false positive rate. We were hopeful.
We decided to prepare ourselves for the worst, and hope for the best. We got book after book about Down syndrome, raising a baby with it, about other families that went through this. Let me tell you that while the books are a great resource, they are terrifying. Every page full of worst case scenario. I walked around numb, scared, and sick with worry.
In the midst of all of this, my regular obstetrician decided that he no longer felt that he could adequately care for me and referred me out to a highly acclaimed local high risk obstretician.
During our first visit our new doctor informed me that my previous ob/gyn underplayed my recent abnormal papsmere and that I had cancerous lesions in my cervix and that I needed to go to a maternity based oncologist. We then informed him of our positive Verifii result, and I will never forget the change of facial expression. Our conversation changed almost instantly. It went from one of planning on having a healthy pregnancy and birth, to one where we were discussing how negatively our life was going to be effected by having a child with Down Syndrome, how my other children would suffer and how we would have to care for her for the rest of our lives. He brought up terminating our pregnancy over and over again, and it finally took us raising our voices and letting him know that termination was absolutely not an option. He wanted more testing. I was too far along for the CVS, but I could get an amnio in a few weeks. The amnio having a 1:500 chance of causing a miscarriage. We were against it automatically. It wouldn’t give us any useful information, only a definitive yes or no about Down syndrome which wouldn’t change the way we felt. He pushed and pushed, we didn’t waiver. They lined up what seemed like a million doctors appointments. I needed to see an endocrinologist, a pediatric cardiologist, several more high resolution ultrasounds.
Every other appointment, or test showed no indication of Down Syndtome. She didn’t have any heart issues, and her anatomy scan showed none of the typical features associated with Down Syndrome. We were so confused, and didn’t know what to think or believe.
I knew I’d love my little girl no matter what, and if Down Syndrome was going to be our reality it didn’t really matter to me, but the closer the day came for my scheduled c section the more scared I became.
8/7/2014 came faster than I had imagined. Here was the day of reckoning. I was prepped for surgery and lay in bed hooked up on all the monitors waiting for the doctor to be ready for my surgery. One minute the doctor was running behind, and my surgery was held off for an hour or more, then the baby’s heart rate dropped and about 10 nurses came in, pushing me from side to side, rolling me, prodding and then I was being wheeled away to surgery.
When they delivered my baby she was screaming her beautiful little head off. My husband got to take pictures and hold her briefly. When my surgery was over and I was in recovery they brought me my baby to try and breastfeed. She was very sluggish and just wouldn’t wake up, not even for the bottle. They tested her blood sugar, and it was critically low. They brought her to the nursery for further testing. My husband needed to bring my mother home and pick up our other children so while he was gone I rested alone in my hospital room. While he was away, they brought me my baby to do skin to skin because her body temperature was very low. She just wouldn’t warm up so they took her away to the nicu.
When my anastethsia wore off and I was able to go to the nicu I was heartbroken to see my baby hooked up to wires, and needles, and tubes. My poor baby! The nursing staff was incredible except for one thing. They couldn’t see past my daughters diagnosis. Being nurses you would think it second nature to realize that low blood sugar would cause lethargy, the inability of the body to maintain temperature and alertness. Instead she wasn’t eating because she had low muscle tone and a fat tongue and eating would be difficult for the rest of her life. Her Down syndrome was the reason why she wouldn’t stay warm. Everything my baby did or didn’t do was because of her diagnosis. They were wrong, I knew they were. Onc her blood sugar stabilized, she ate, she was alert, and she stayed warm.
My child is not her diagnosis.
My child is not Down Syndrome.
My child can do anything and everything.
I will not allow labels, misconceptions, stereotypes, stigmas, society, anything limit my child!
My child is……..ABLE!
Always presume competence!
I will be writing more about our journey, but I think this story is enough for now.