The Beginning

I would like to kick off this blog by throwing out a few random odds, taken from Funny2.Com: 

1 in 280,000 = Being struck by lightening
1 in 11,500 = Bowling a 300 game (not Wii bowling, of course)
1 in 5,000 = Getting a hole in one
1 in 19,556 = Incurring injury from fireworks

 Interestingly enough, I or someone close to me have known someone personally who have been that “1” above……clearly defying all odds. So here is one more statistic taken from another website, which is the inspiration for the title of this blog: 

1 in 1000 = A mother of 30 conceiving a child with Down syndrome

In retrospect it doesn’t seem so impossible that I am that “1” this time.

The fact is though that barely a week ago I never once thought that my baby would be born with an extra chromosome. I had been greatly anticipating my 12 week appointment, at which was scheduled an NT scan. I was excited at a chance of being able to actually see my little one on the sonogram and hear the heartbeat, as opposed to just a little blob which the technician told me was a baby. And that is exactly how the appointment started….

I saw my little baby dancing around on the screen, waving, sucking her little thumb. I heard her heart beating at a strong 168 beats per minutes. Lying back with an amazing feeling of love, the technician started into the the true purpose of why I was there. Of course I had no worries. She wiggled the wand across my belly and was clicking away on the screen. I watched her move a cursor, measuring the fluid behind the baby’s neck. I watched her face briefly show a moment of concern. She wiggled, clicked, measured again. Then the words came, and I immediately knew that something wasn’t right. She excused herself from the room and told me she was going to get the doctor.

From that point forward, everything was surreal. The doctor also wiggled, clicked and measured….. He calmly explained to me what they were seeing. The fluid behind the baby’s neck was measuring at 3.7mm. According to the doctor, at my baby’s gestational age the maximum they would prefer to see is 3.00mm. Ideally, however, it would be much less. The amount of fluid immediately raised the risk of a chromosomal disorder to high.

The doctor also was detecting a hygroma, a fluid-filled cyst, on the back of the baby’s head. He told me approximately 60% of the time these are caused by a chromosomal abnormality. Between these two things he saw on the sonogram, the doctor was quite certain my baby had a genetic syndrome. He offered a test that could tell me with over 99% accuracy. I did not hesitate to say yes. I will not go into the details of the what the CVS involved, but I will say it was a terrifying. Especially because I was alone, and probably more so because deep down I already knew what the results would be.

Two days later, I received a phone call from the genetic counselor. She confirmed my baby has Down syndrome. I let go of the small sliver of hope I was holding onto, and so begins this journey. It is one I am not quite sure I am prepared for, but one I am willing to embark on.