Tuesday, December 30, 2008

The decisions begin

Like I've said before, the Internet can be a blessing and it can be a curse. Dave and I did more than our fair share of searching the Internet for information on Tri-18. There are so many negatives out there, but there are also those rays of hope where children do survive. (We hear there's a 30 year old with Tri-18, but that is rare.)
At this point of our discovery, we were wondering what was best for this baby. There were times when I'd pray to God and just ask Him to let me miscarry. Please don't make me put this baby through pain and through dying. I questioned my strength. The hardest death I've had to deal with was my nana's. How would I face the young death of my own child, the one I was to carry for nine months? Would my pregnancy be a waste?
I tell you, we've gone through a lot of soul searching. But I digress. At this point, the point between the blood test and the Level 2 ultrasound, we were walking a tightrope, two weeks worth of a tightrope. We had to think of the positives and the negatives. We had to be prepared for what we were to find out for there were decisions we'd have to make. We knew the markers to look for, but what if only one or two minor ones showed up? I was adamant that I did not want an amniocentesis. What if a lot of the prominent markers showed? How were we to handle that? Both of us decided that termination was out of the question, unless it proved to be harmful to me (that was Dave's request).
At the Level 2 appointment, we spoke to a genetic counselor who basically went through our family tree to see if any other problems might show up. Nothing. So why this Trisomy 18? It's not hereditary, for the most part. Apparantly, my age is a factor. That is so hard to deal with when I see others older than I am having healthy babies.
After speaking to the counselor, we had the ultrasound. There we sat, looking at the monitor, watching the baby, watching the sonographer, not having a clue as to what we were looking at, hoping and praying that everything was normal. The doctor came in and took a look, glanced at me a few times with his cold eyes, and then took us into his office. He saw two markers--choroid plexus cysts in the brain (which he said were sometimes found in normal babies) and a missing middle pinkey bone (sorry, I don't know the technical term for that one). Dave and I knew that these were not the strongest markers. What to do? What to do? This still didn't answer our question as to whether our baby had Trisomy 18 or not. The next step was amnio, but remember, I was dead-set against this.
I cried. And cried. I knew I could not go through this pregnancy wondering if my baby had this condition or not. We saw straight fingers, not overlapping ones. There was no rocker foot. No folds in the neck area. The doctor couldn't even find problems with the heart. The kidneys were questionable, but when you see so many positives, and then these two negatives, you have no definitive answer. Making the decision to have the amnio was one of the most grueling decisions I've ever made. I gave in. I had to know; otherwise, the remaining days of my pregnancy would be hell. The amnio might not give us the results we'd hoped for, but at least that big question mark would be out of the way. I can positively tell you that I've never been so scared in my entire life. I sobbed the whole time I was being prepped and didn't stop until the procedure was done.
We were told that the short results would be in in two days, but being that it was Wednesday, we might not hear from anyone until Monday. The full results would take about two weeks. Once again, we were on that tightrope, with a big question mark as our pole.

Sunday, December 28, 2008

In the beginning. . .

The day I found out that my optional bloodwork came back showing a high risk for Trisomy 18, I was walking down the hall at work proudly thinking, "I have four healthy children." (For those of you who don't know me, I have an 18 year old, a 17 year old, and a 15 month old. In my statement, I included this baby.) When I got out to my car to leave work, I saw that I had a message from my doctor's office. I called. No answer from the girl who had left the message. I have to admit, I was quite nervous. I called again. She answered. She told me that my bloodwork was in and that it showed a high risk for a condition known as Trisomy 18. But it's only high risk. Not to worry. My voice was shaking as I asked her what Trisomy 18 was. Oh, it can mean that your child can have profound mental retardation. How do you spell it? You see, I had never heard of this. I thought the bloodwork was for Down Syndrome and other disorders, having no idea that Trisomy 18 was one of those "other disorders." She told me she would make an appointment with a high risk doctor and would get back in touch with me once she did.

I have to go ahead and say that the Internet is a blessing and a curse. My first reponse was to go straight to it and look up exactly what this Trisomy 18 was. I was shocked. This wasn't just a condition that would affect my child's mental condition. This is a condition that will affect my child's life!

Trisomy 18 is when the 18th strand of chromosomes has an extra chromosome. According to some of the research I've done, roughly 2000 babies are born with either Tri-18 or Tri-13 in the United States each year. 95% of babies with Tri-18 miscarry. Roughly 10% of the children born with Tri-18 survive past their first birthday. The odds are totally against these children.

Typical characteristics include:
Heart defects
Kidney problems
Part of the intestinal tract is outside the stomach (omphalocele)
The esophagus doesn’t connect to the stomach (esophageal artesia)
Excess amniotic fluid (polyhydramnios)
Clenched hands
Pocket of fluid on the brain (choroid plexus cysts)
Rocker bottom feet
Delayed growth
Small jaw (mycrognathia)
Small head (microcephaly) Low-set ears
Strawberry-shaped head
Severe developmental delays
Umbilical or inguinal hernia

Needless to say, I bawled after reading this. How was I going to tell my husband? How were we going to handle this? What did this actually mean for us? How could I watch this happen to my baby? The questions went on and on, but it was impossible for me to keep in mind that the test showed high risk. Basically, my heart was broken, and broken hearts just seem to forget how to see the positive in situations.

I can't tell you how long and how many times I cried that day before Dave got home. When he got home, he was in such a good mood. I didn't have the heart to tell him, but I suddenly felt this sense of strength that at least calmed my own heart.

After dinner, I broke down and told him. It was so hard to do. After putting the baby to bed, we went back to the computer and looked up information. We went to the legacies page. BIG mistake! I cried like a baby as I saw the pictures of these precious babies and read their descriptions, descriptions that included how long they had lived (if they had lived at all). Maybe we shouldn't look at this page, he said.

At this point, our only hope was that the Level 2 sonogram that was to be scheduled for us would show evidence that our baby didn't have this condition.

Thursday, December 25, 2008

December 25, 2008

Merry Christmas!

While today is a day of joy for so many families, there is a bit of sadness clouding my family. It has been since the beginning of November. It was then that I found out that the baby I'm carrying, due April 21, 2009, has a condition called Trisomy 18. If you've never heard of it, well, neither had I. It's not as well known as another trisomy condition, Trisomy 21, aka Down Syndrome. While I'll explain it later in better detail, I'll go ahead and say that most of the medical community consider it a condition that is "incompatible with life."

This blog is an account of my journey, along with my family's, as we venture through this unknown territory. We have no idea what the outcome will be. What we do know is that, already, this baby has beat the odds, and that is worth talking about and sharing with others! I thank you, in advance, for following along. I wish with all of my heart that I could say this story will have a happy ending. On the other hand, it may--once you change your definition of what a happy ending actually is. God Speed. . .