Only One Amino Acid

Diagnosis: Thanatophoric Dysplasia

By Freya's Mommy

It took us 6 months to get pregnant. I was overjoyed at the two pink lines (finally!!!!!) on the pregnancy test and stayed that way for five months. Everything was going wonderfully and she started kicking at 16 weeks. She kicked in the morning and at night, and when I was hungry. I had waited my whole life for this child and it didn't seem real that she was finally coming to us.

We had an ultrasound at 19 weeks and I should have known that something was wrong. The technicians took an exceedingly long time focusing on the bones, the femurs, the humerous, the skull. They moved me to a better machine and another technician and looked at those same bones again. Nobody was smiling. They let us look for only a minute and they didn't want to print us a picture or book another appointment.

The next day the doctor told us it was likely our little girl had a form of skeletal dysplasia "incompatible with life." I saw that the radiologist wrote "telephone receiver shape femurs" on the referral, and I google searched it when I got home. I studied developmental disabilities in university and I knew that there were lots of forms of skeletal dysplasia, some of which are not very limiting at all. But my heart sank when the only name that came up was Thanatophoric Dysplasia - death-bringing failure of growth. Thanatophoric dysplasia is only one amino acid difference from achondroplasia, a form of dwarfism with a normal quality of life. One amino acid. I couldn't look any more. We stayed up all night crying, with her moving and kicking all the while. How could a baby who kicks so much be so sick?

The next day the geneticist confirmed our fears. Yes, our little girl had this horrible condition. She had stunted skeletal growth with short arms and legs, a flattened spine, and a ribcage that would not grow to accommodate her lungs. She would die within hours, days, or weeks after birth from respiratory failure. Then came the dreaded choice. Carry to term and watch her die; run more tests to confirm the diagnosis, induce labor and then watch her die; do a D&C; or induce labor now.

Of course we loved her so very much, we didn't want her to suffer. My partner wanted more tests but I knew if we waited much longer she could be born alive, like a premature baby. I didn't want that. If she was to die I wanted it to be while she was still warm and cosy inside and not outside in the cold, gasping for air. So we chose to induce right away, the next day. It was all happening so fast. That night I was conscious of everything being the last time. The last time I wear maternity clothes, the last time I sing to her, the last time I feel her kicks, the last time she sleeps peacefully. I stayed up most of the night singing to her and telling her that I loved her and I was sorry. There just aren't enough sad songs.

In retrospect I'm glad I had the chance to say goodbye like that. If it would have been a miscarriage I wouldn't have had that chance. I'm also glad I went through labor. I needed that goodbye to be real and painful. I needed to take on the pain myself so that she wouldn't have to.

The next day was awful. They did an amnio in the morning for the genetics people. When they did the ultrasound to place the needle, I wish I would have asked to see her one last time. Until the needle went in, it felt like it was all a bad could this really be happening when we wanted this baby so much? There were pictures of George Clooney on the ceiling. I cried so hard I thought I would choke. They used cytotec to induce me, and it took about 8 or 9 hours. The very last kick I felt at about 11:30 while they were taking blood. I kept trying to feel her all day, but there was nothing.

The labor wasn't so bad. Not because of the morphine, or because she was so small, but because the sadness was so much worse. When it was time to push I just wasn't ready for her to leave me and I couldn't do it. All day I felt like I was on a train going to a dangerous place and I couldn't get off. I just wanted to take it all back, to stop everything and go back to the way things were. But I had to see it through, somehow. Between contractions I sang to her, one last time.

When she came, I thought I would die of sadness. I didn't know it was possible to be so sad. In that moment when she came out, it felt like all the hope I had in the world was leaving me too. Like I had lost everything all at once. The sudden emptiness was overwhelming. I cried much louder after the labor than during. They asked me if I wanted to see her, but I said no because I knew it would just be too much. I wanted to remember her the way that I pictured her. But they gave me her footprints. My partner said they looked just like mine. I wanted to tell her that I loved her and I was sorry one more time, but I knew she couldn't hear me any more.

She would have been my pretty little daughter, my precious child. She would have had brown hair and brown eyes and we would have called her Freya. I started wishing that we would have kept her to term... so I could see her, hold her, just have her for a little while. The more I read about thanatophoric dysplasia though, I know that wouldn't be right.

I was talking to another T.D. mom on the internet who kept her son to term, telling her that she was lucky to have so much time with her son. She answered that no amount of time is ever enough when it comes to your children. I've never heard anything so right. I'm glad I had the time I did with her, loving her and enjoying being pregnant with her. I keep saying that if it would have been anything else, we would have kept her. But you don't realize how many horrible and lethal conditions can afflict your child until you come across a page like this. I know I did the right thing for my daughter, my little Freya, but I can't help half-believing that things could have been different, that I could have saved her somehow.

Now the most difficult task of somehow going on. Everyone else seems to want me to move on, to forget her, because "I could always have another baby." How I hate that sentence. Doesn't anyone know that I wanted THIS baby, I love THIS baby. She was her own person, unique and wonderful. It's so hard carrying this secret loss that no one wants to talk about with the added stigma that I "chose" this for myself. And of course there's the lingering feeling that I may not have done the right thing. Mothers are supposed to protect their babies, not terminate them. Wasn't I supposed to protect her from thanatophoric dysplasia too?


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