The Results Are In: Turner Syndrome

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On March 31st I finally received the call I had been anxiously waiting for. The results of our baby’s pathology tests were in.

The doctor said our baby had a rare chromosome abnormality and there shouldn’t be a great chance of me miscarrying again. Then she asked if I wanted her to fax the lab report to me. I said yes as I figured Mr Boots would have questions. Our original plan was to make an appointment to see the doctor when the results were in. Mr Boots was worried I wouldn’t be able to handle the news and I knew Jake would have questions.

But I was anxious to know what the results were. When the doctor said it was a chromosome abnormality I didn’t see the point in trying to set up an appointment to see her. There isn’t much you can do for a chromosome abnormality and since this was my first confirmed pregnancy I knew the doctor more than likely wouldn’t refer us for genetic counseling.

I got a lot more information from the faxed results. I was a little scared to read the fax. My biggest fear was that I would find out the baby’s gender. I wasn’t sure I wanted to know. I was scared it would be a boy (I’d really like a boy) and we’d have nothing but girls after that. Or it would be a girl and we’d have nothing but boys after that (Mr Boots wants a girl). I didn’t want to spend the rest of our lives thinking about the one baby we wanted to have but didn’t.

Most of the results were in medical terms. I had to look things up on the internet to find out exactly what kind of chromosome abnormality our baby had. The one phrase that stuck out at me – and still sticks out at me – was that the baby was “maternal in nature.” Well, that took care of not wanting to know the baby’s gender.

“It/Baby” was a girl.

I began to cry as soon as I comprehended what I had read. Suddenly, it didn’t matter what the baby’s gender was. The being that had been inside of me was no longer ambiguous. Suddenly, my baby became very real. The miscarriage became very real to me. I would have had a girl. I had visions of pretty frilly dresses and tutus. In pink.

But we will never get to dress her up in pretty pink things.

The fax said our baby had monosomy x. Which, according to my search of the internet, is a fancy medical way of saying Turner Syndrome.

Turner Syndrome only affects girls. So even if the fax didn’t say the baby was “maternal in nature” I would have found out the baby’s gender. It’s got something to do with reproduction and puberty. Some women don’t even find out they have it until they start trying to conceive and find out they can’t. It sounds like our baby would have had a normal life, other than not being able to conceive, if she had been born. That is sad to think about, but only about 1% of babies who have Turner Syndrome will ever be born. It was a comfort to know that in this regard, our baby had been a majority.

From the sound of it, Turner Syndrome isn’t something that is passed on from the parents to the baby. So it was comforting to know that I was right in thinking I had done nothing wrong.

Mr Boots and I can start trying to conceive again next month, but I don’t think it will be as exciting as the time before. We’re already nervous miscarrying again. It happened once, it can happen again. The fact that this miscarriage was a rare chromosome abnormality is helpful to know and the doctor doesn’t think there is a big risk of it happening again, but I don’t know how comforting all that really is. The innocence of pregnancy is lost on us now.

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