My pregnancy was perfect for me. No morning sickness, no real discomfort, no problems at all, I enjoyed this time. I had started a journal when I found out I was pregnant. I was newly married as of that spring and had no problem conceiving before the summer was through. We had just bought a beautiful 4 bedroom house in a picture perfect neighborhood. It was so much like a fairy tale come true. I went for monthly ultrasounds; I made sure they video taped each one. There was one ultrasound which brought my life to a screeching halt for over a month and a half…it seemed like forever.
The day of the ultrasound was calm and sunny, just as happy as any other day. A routine visit for me, I was going to have a baby boy in a couple of months. Then the nurse turned the screen from me, she asked me to go into the room next door and wait for the doctor. After about 10 minutes, the doctor came in and told me there was something wrong with the baby. My face was still frozen in the peaceful smile I’d held all that day. She continued to tell me my baby had a form of dwarfism called thanatophoric dysplasia and that it was “incompatible with life”. She then gave her condolences and left the room. I sat on the crinkly paper atop the padded examination table wearing only a stiff disposable gown. I had felt the smile melt from my face as she was speaking to me and everything was still for a moment— one which could have lasted seconds or hours in my head. I scanned the room for a phone and called my husband.
For the remaining pregnancy, the nursery door was closed; no more clothes or toys or bottles were bought. We grieved for the child, not yet born. I was sent to a “specialist” who gave that same diagnosis as the most plausible, but also threw in several others that were all pretty far off the mark. All except for one, which he listed last; it is Achondroplasia and it it the most common cause of dwarfism. The careless throwing around of diagnoses had caused us to believe the baby moving around inside of me, who had been named and was already a part of our lives, was going to die shortly after he was born.
*Thanatophoric dwarfism is a rare condition occurring in 1 in 100,000 births. To date, only 2 cases have been reported on in which this condition was diagnosed prenatally before the 24th week of pregnancy post menstruationem. — Boos R, Schmidt W.
*Achondroplasia is the most common of the skeletal dysplasias, arising in approximately 1 in 26,000 individuals.—Richard Pauli, MD, PHD