Finally, Some Answers

We finally received our test results today. The baby we lost four weeks ago definitely had Turner syndrome, which means it was definitely a girl. Although the symptoms noted on the nuchal translucency ultrasound made this practically a foregone conclusion, I am relieved to know for sure. Surprisingly, I felt a bit shaken and sad at hearing this.

For those who don’t know, Turner syndrome is a chromosomal abnormality that affects only girls. It occurs when all or part of the second X chromosome is missing. Babies that survive to birth can live a wonderful life, sometimes with initial serious difficulties, such a heart defects. However, TS has a huge miscarriage and stillbirth rate.

And what heart disease has Turner syndrome been known to cause? Ding, ding, ding. Cardiomyopathy, the same disease our sweet Lucy battled to her end.

Turner syndrome and pediatric cardiomyopathy are both very rare conditions. It bothers me that two siblings could each have a different rare condition, which have a connection, but share no connection for them. That doesn’t seem likely to me, especially considering my other missed miscarriage and D&C due to unspecified chromosomal abnormalities. The nurse practitioner who delivered the results this morning assured me that TS is non-recurring and that our doctor would encourage us to try again. They are wonderful, knowledgeable medical professionals, but I don’t know if I trust them on this one. Our situation is too weird. The unlikely, awful outcome has happened to us too many times.

Since Scarlett and I were at her pediatrician’s office this morning getting a rash checked out, I decided to ask him what he knew about TS and if he remembered any signs of it in Lucy. He assured me he saw no sign of it in her or Scarlett.

As I mentioned in my post yesterday, I don’t know if I want to try again. I definitely don’t want to without talking to a genetic counselor and possibly undergoing genetic testing. At this point, I just don’t want to period. Chris and I have discussed adoption on and off for years. Ever since I was young, I thought I would have biological and adopted children in the large family I envisioned. We are giving ourselves time to think, heal, research, and mourn our precious baby girl. We have been calling her Baby Peach, since she was about that size when she died. I think we are going to name her Violet Dorothy now that we are sure she was a girl.

Rest in peace, sweet love. We wanted you so much.

1 Comment

  1. Amanda Himes said,

    November 2, 2015 at 5:39 pm

    Sara, I am so sorry for this loss, coming on top of Lucy’s and baby Bean’s, but answers can be a relief. I look forward to the day when medical science can tell us more about Logan’s autism. On a side note, Jonathan and I have some good friends here in Siloam Springs who have three girls: their names are Dorothy (11 yrs), Violet (8 yrs), and Madeleine (5 yrs). Good names, all!

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