Sunday, October 28, 2012

In the Beginning...

Now, you might be wondering "what the heck is Turner's Syndrome?" Basically if you look at all the chromosomes and cells as the words of a book, Turner's girls have an inch cut off from each page of their "book". They are missing all (or in my case only part) of their last chromosome and so each part of the body including the endocrine system, ect. is missing some information. This is why we are so able to stay so short and adorable for so long!  We Turner's girls are also a rare breed (only 1 out of 2500 live female births), and 7-9 out of every 10 girls with Turner's Syndrome are miscarried. Also, since Turner's affects only females its a girls only club :) To give you a picture of Turner's as a baby here is the story of how I was diagnosed...

I was born in June of 1984 in Washington state. Although I was the third of four children my mother thought I was absolutely adorable and wished I would stay that little forever. Coincidence that I get diagnosed with Turner's Syndrome only 8 months later? I think not! For the first few months my parents had no idea that there was anything different about me, except for the fact that I had edema (swelling or puffiness) in my feet and hands (This went away before I was three years old). When my parents took me to the doctor he told my parents I had some odd rare disease and would need my feet cut off to save my life. Thankfully for me (and every dance partner I've ever had) they didn't listen to this doctor. I was taken to Children's Hospital in Seattle to Dr. Virginia Sybert. She took one look at me and said "I'll have to run tests, but she has Turner's Syndrome". Dr. Sybert said that she could tell because of my puffy feet and hands, the almond shape of my eyes and the fact that my ears are slightly pointed and tipped back like an elf's. They did the blood work and found that one leg of my last chromosome was missing and that my father had an extra partial leg of a chromosome. With the diagnosis of Turner's cam a lot of questions from my parents and a lot of medical tests and treatments.

Next, I'll tell you a little more about these medical tests and treatments that Turner's girls can expect.



Me when I was about two years old... You can see in this picture the special shoes made for me since the swelling had not gone yet from my feet and hands.

Chromosomes... for the science nerds :)

Welcome!

Welcome! Thank you for stopping by :) My goal in writing this blog is to provide information and support for Turner's girls and their loved ones. As a young woman who also happens to have Turner's Syndrome I know you have many questions.

  • What is #Turner's #Syndrome?
  •  Is Turner's contagious?
  •  How will this affect the life of me or my child?
  •  Can I live a normal life?
  • Where can I find "tall people jokes" to balance all the short jokes I'll hear over my life?!
These are some of the questions I hope to answer in my posts. To give you a little background on who I am and why I'm even talking about this, here is a "little" bit of information. I'm 28 years old, I work as a social worker and I was diagnosed with Turner's Syndrome when I was 8 months old. I live with my wonderful husband Michael, currently finishing up his PhD in Chemistry, and our adorable Beagle dog Dagny. When I'm not at work I can be found with my nose in a book, going for walks, talking with friends or singing songs from Broadway musicals while dancing and cleaning the house.

I'm writing this blog since Turner's is a little known condition and I want to give hope, information and support to Turner's girls and their families since raising a girl with Turner's Syndrome can seem like an exciting and confusing roller coaster ride. As I write these blogs feel free to ask me any questions or offer comments on what you read (but let's keep it clean and be polite people). Hope you enjoy!