Watch your head...there is a shoe falling

And the shoe dropped...

I took Bird in for her physical and the doctor mentioned (again...as she had for the entire 13 years of Bird's life) that Bird was small for her age. This was something I was well aware of. Bird frequently didn't even make the growth charts. At most, she would zoom up to the 5th percentile. I never thought anything of it since I'm no towering example of womanhood. I'm just 5'3 3/4" (the doctor claims I'm 5'3" but I don't believe him...I know how tall I always was!) So, I kind of started to tune her out. But, then, she got my attention again. She mentioned testing. The short stature combined with lack of puberty was sending up red flags in her mind. I felt like I couldn't breathe for a minute. I asked what tests she wanted to run and what it could be, if anything.

Then, I heard the words that have changed everything.

Turner Syndrome.

Knowing that diagnostic tests are subject to deductible on my insurance, I told her I would have to wait until after the first of the year so my flexible spending account would be filled again. I was tapped out.

As I drove home, I could barely think. I had to hide my anxiety from Bird. I walked calmly into the house, booted up the computer and started doing research. I found out where I had heard of Turner Syndrome before...Law & Order. It was portrayed somewhat as the girls who have it are magnets for pedophiles. Oh, great...just what I wanted to hear.

As I read more about Turner, I could see so much of it reflected in Bird. I was sure. I was positive. And I couldn't cry or rage or get on with what needed to be done.

This was November, right before Thanksgiving. The extended family was all coming to my house for the celebration. I could barely function and felt in a fog. I wanted to talk about it, cry, scream.

The next weeks were filled with researching and asking questions. I joined an online support group to find out more.

I learned...a lot. Some I still don't completely understand. Turner Syndrome is a chromosomal abnormality that occurs in approximately 1 in 2,500 female births. It is only present in females. Simply, girls have XX chromosome and boys have XY. In Turner Syndrome, one of the X chromosomes is missing or damaged. Some girls have Mosaic Turner where only a relatively small percentage of the cells are affected. This is determined, apparently, by when in development that it began. Girls with TS frequently have swollen feet and hands when born (and, yes, I pored over her baby pictures, trying to discern any edema we might have overlooked). Some of the signs are a webbed neck, learning difficulties, vision issues, short stature, delayed puberty, flat feet, scoliosis, cardiac problems, kidney problems, hearing problems. There are others. No girl with TS has all the signs. But, Bird had enough. I was sure.

So, we waited. And, on the first Saturday in January, I took her to the hospital to have the blood drawn for the karyotype test. And, then, I waited. And waited. And waited. karyotype tests take 10-14 days to run. It was the longest two weeks of my life, I think.

Finally, I got the news. She was diagnosed with Mosaic Turner Syndrome. And the journey began...