Devastating Diagnosis

On Friday, September 28th (at 13 weeks and 2 days) we became informed that the baby I am carrying is not only a little girl but also has Edwards Syndrome also known as Trisomy 18.

Edwards Syndrome : Edwards Syndrome (Trisomy 18) is a chromosomal abnormality where there is an extra chromosome present in every cell of the body. This is an example of where "the more the merrier" is not true. This extra chromosome means that every cell has extra information encoded into it. The extra information causes confusion in the way that the cells are formed and results in the potential malformation of all of the body systems. Just like with Down's Syndrome (Trisomy 21), there is a wide range of how this condition will play out (what the doctor's will refer to as your child's phenotype). Unfortunately because there is more information encoded on the 18th chromosome, the severity of this condition is greater than that of Down's Syndrome. Current studies show that while 1:1500 children will be diagnosed prenatally with trisomy 18, only half that number (or 1:3000) will be born alive at full term. Of those who survive to birth, only half will make it to two months of age, and only 10% will survive to their first birthday. Children who live can be an important part of their family and community, but are profoundly developmentally delayed.

+ Associated link: http://trisomy18support.org/modules/wfsection/index.php?category=3...

I am not too good at writing/typing the things I want to say and describing how I feel, so please bare w/ me…

At 12 weeks I had the First Trimester Screening which showed a slight increase of fluid in the back of the baby's neck. The next results came to us via blood work showing a decreased level of HCg as well as an increased level of PaPPA. I was told that could have meant that something was wrong w/ the placenta or w/ the baby's heart. At this time we were faced w/ the risk of 1/140 chances of having a child w/ Down Syndrome. At which I thought the chances were still slim to none but thought it might be best to know now instead of at delivery leaving us no time to learn of such disability before having to take our baby home. Also figuring we would have the next 28 weeks to obtain the knowledge needed to raise our baby if indeed it had Downs.

It took me two days to decide whether or not to have a CVS (Chorionic Villus Sampling) procedure done in fear that it would cause a miscarriage to what could have been a perfectly healthy baby, but at this time the doctors and genetic counselors had me so sick and scared that something was indeed wrong so I vouched to have the test done to prove to all of them that our baby was fine. Boy was I wrong…

I said to myself (and others who felt that I should have waited) on my way to the appointment that I needed to do this for me so I could rest at ease knowing that our baby was healthy and that everything was okay…I wanted so badly to be able to enjoy the rest of the pregnancy opposed to being nervous that something was going to be wrong.

The procedure went well and nothing seemed alarming to me, the ultrasound tech or the doctor performing the procedure (at least they didn't say anything to make me think otherwise). The genetic counselor made me feel better in person than she did on the phone. I felt at ease already and was able to somewhat enjoy the remainder of the day, aside from having slight discomfort from the procedure itself. I was able to have the next day off of work not only to relax but to await for the preliminary results of the test, hoping to be at home when getting the phone call in case it were bad news.

I waited a little over 36 hours to get the preliminary results, thinking this whole time we were going to have a baby w/ Down Syndrome…I now wish more then ever that that was the diagnosis. I received the call at 8:51am (two days later) while on the bus (public transportation) on my way into town to start work. The words coming from the genetic counselors mouth, through my cell phone, I will never forget. "I'm sorry but I don't have good news…your baby has an extra 18th chromosome." I said…"that's Trisomy 18"…..She said "yes, it is…so you know about it"? I had by this time gotten off of the bus as I couldn't bare to break down in front of perfect strangers.

I had only heard of Trisomy 18 (Edward's Syndrome) a few days prior when I was given a paper at the First Trimester Screening appointment describing what they do and what they look for to determine the risks. I knew from what I read that such genetic disorder was considered "incompatible w/ life" and that it occurs in about 1:3000 live births. I also knew that unlike Down syndrome, Trisomy 18 is usually fatal, with most of the babies dying before birth and those who do make it to birth typically living only a few minutes to a few days, not usually more than two months. However, a small number of babies (<10%) live at least one year but even that was so unpredictable. This was certainly not what I had expected, nor what I had planned for. Geez, I wasn't even prepared for such news, especially over the phone.

It has been a week yesterday since I had gotten these results and we have since then chose to carry to term. I know what the future holds and am trying to cope w/ such devastation more and more each day. I have days that I am happy and smiling and others that I am crying and just outright angry…but I think these feelings a normal. I go from patting my belly saying she's going to be just fine...to the thoughts of which funeral homes are we going to call.

We are due March 31, 2008, and can only pray that we will have as much time as possible to get to know our baby girl...