Wednesday, November 6, 2013

The Diagnosis

After the Amniocentesis on Oct. 25th the Perinatal office told me it would probably be at least 2 weeks before the results would be available. I was going to have to be patient, and I was. So much so that I was not expecting that phone call yesterday.

My amazing doctor was still in Hawaii so one of his partners called me. "It's Turner Syndrome," she said. I wrote it down on a piece of scratch paper as if I didn't know what it was. But I know. She asked me if I wanted to come in with my husband before my next appointment for genetic counseling and I told her I would call her back after talking to Patrick. I wrote down her name, too, as if I wouldn't remember it in my head for the rest of my life.

Click. I set my cell phone down and sat at my desk at work and let the tears come. I couldn't even tell what the tears were.... happy? sad? shocked? relieved? It was all of them though.

More than anything I was relieved and happy which is very confusing when you get a diagnosis like that for your unborn child. I should be more shocked. I should be more sad. These are the feelings that should be taking me over. But they aren't.

I knew what the possible diagnoses were when I decided to do the Amniocentesis. The most likely culprits based on Baby Girl's condition were Edward Syndrome, Down Syndrome, and Turner Syndrome. Everyone pretty much knows what Downs is but most people are less familiar with the others. Edwards babies (if they even make it to birth) typically only live for days at the most and have lots of physical and neurological defects. Turner's babies (again, if they make it to birth) typically have an excellent outcome. While no child is exactly the same they normally grow up to live very successful and happy lives with minimal neurological defects is any. They are known to be shorter in stature with a short webbed neck (from the cystic hygroma shrinking... its just leftover skin), and they are also infertile and can have congenital heart problems.

While deep down I was hoping it was nothing and we could just go back to hoping these abnormalities would resolve on their own, you can probably understand my relief that it was not Edwards or Downs.  I feel like in a weird way this is the best news we have gotten since this all started a month ago. I'm happy that our little girl might have a normal life.

Unfortunately, this diagnosis does not help her odds right now. According to everything I'm reading, 99% of babies conceived with Turner Syndrome are either miscarried or stillborn. We are trying not to focus on the statistics and in fact my doctor is very anti-stats. But it's still hard. Everyday is scary. And everyday is a blessing.

A blessing. That is exactly what all of this is. This is our child. This is our little girl. No diagnosis, no abnormality, no difficulty we endure will change how much I love her. I have never known a love like this. It captivates your heart. She's my baby girl.


  1. On some level, I understand the relief and even the happy feelings. Sometimes it's just good to know what the situation is. We are praying for you and your family.

  2. I am so sorry to hear this. I know how terrifying it is to get a diagnosis that you weren't expecting. My family will say many prayers for you and your sweet baby girl.

  3. I understand the relief and the happy feelings but I'm sorry to hear about there being genetic abnormalities. I'll pray.