A Curse & a Blessing

Posted on Posted in Induction/L&D, Thanatophoric Dysplasia

By Caden’s Mother January 14 Everyone gets theirs. I went to the doctor today for what I thought would be one of many routine visits. He pulled a piece of paper out of my file. It had all sorts of funky looking numbers on it. My world came screeching to a halt. Apparently, and might I add not surprisingly, I’ve flunked my prenatal screening test. That heinous piece of paper claims the odds my baby has Down syndrome should be 1 in 1,100 or so. My odds came back as 1 in 250. That’s the same as the average rate for a 35-year-old woman. I’m not even 25. The doctor said there is no need to worry, that there is […]

Just One

Posted on Posted in Thanatophoric Dysplasia

By Jennifer The decision to end my pregnancy in 2006 came two days after my now twelve year old daughter, Hannah’s, sixth birthday. She was excited for the arrival of her baby sister, Emily. At our 20-week ultrasound, which was performed a week late so that my husband could come to the appointment, we received the devastating news that our baby had “serious skeletal issues consistent with dwarfism.” A week later, the diagnosis of Thanatophoric Dysplasia (which literally means “death-bearing”), was confirmed by the perinatologist. Thanatophoric Dysplasia has a survival rate of zero, due to an obstructed formation of the lungs. In our case, pre-eclampsia […]

What is Thanatophoric Dysplasia?

Posted on Posted in Diagnosis Information, Thanatophoric Dysplasia

Thanatophoric dysplasia is Latin for “death bearing malformation.” It is a skeletal disorder and a most severe form of dwarfism. Infants born with this condition are usually stillborn or die from respiratory failure shortly after birth. There are two types of Thanatophoric Dysplasia: Type I is characterized by abnormally small limbs (micromelia) with bowed femurs and, uncommonly, the presence of cloverleaf skull deformity (kleeblattschaedel) of varying severity. Type II is characterized by micromelia with straight femurs and uniform presence of moderate-to-severe cloverleaf skull deformity. Features of Thanatophoric Dysplasia include enlarged head (macrocephaly) with large forehead and prominent, wide-spaced eyes, narrow bell-shaped thorax, normal trunk length, […]

Peanut: One Dad’s Story

Posted on Posted in Induction/L&D, Stories, Thanatophoric Dysplasia

By Doug I only wanted a healthy child (ten fingers and ten toes was what I always told everyone that asked, and I meant it) but my wife was really hoping for a girl. You see, I was a bit of a terror growing up and she didn’t want to be put through the hell that my Mom was by any progeny of mine. To counter this, I had been taunting her by saying that for karma’s sake, I was going to hope for a boy. We were 22 weeks along. Well, we were seeing a new OB/GYN this time around and he was to […]