Student raises awareness about living with Turner syndrome

February is a month to spread awareness of something very close to home for me, and I wanted to share my story with anyone who cares to read it.

I was born with a very rare chromosomal disorder called Turner Syndrome, which affects 1 in every 2,000 live-born girls. Actually, I am missing one X chromosome, though some girls with this condition have a partial X chromosome.

It took 15 years for doctors to notice that something was different about me than other girls — though mom had thought that herself my whole life. The doctors all told her she was being an over concerned first-time mother.

So one summer day when I was 15, she took me to the local clinic and told them her concerns once again. I wasn’t very tall for my age at only 4-foot-9, and I had not “developed” at all as a girl should.

This time the doctor decided to do some blood work to see what was going on.

We got the call a week later that my LH hormones were very high, and the clinician was referring me to an endocrinologist in Louisville. At the endocrinologist’s, it took the doctor about 10 seconds to look at me then tell me that I had Turner syndrome.

He began explaining what it is, and what actions I needed to take to take care of myself, and more importantly, lead a normal life.

I was to be on growth hormone shots for three or so years, and birth control pills after that for estrogen replacement therapy the rest of my life.

The months following my diagnosis were a blur of doctor visits, tests, and blood-work for my family and I.

I am so blessed, however, and I learned this as soon as I started researching Turner syndrome for myself with my parents that my case is so much less severe than for other girls and women who have this disorder.

Turner syndrome is named after Dr. Henry Turner, who discovered it in the 1930s after conducting research on some girls who shared similar symptoms and short stature.

Babies with Turner syndrome have a 99 percent chance of not even surviving the pregnancy (Turner syndrome also accounts for 10 percent of all miscarriages), and I should have been diagnosed with Turners as soon as I was born, since I had not been diagnosed in vitro, which is the case for a lot of girls.

Some common symptoms are: conjoined kidneys, premature ovary failure, short stature, minor heart defects (this has not been a problem for me yet, though I do have a mal-formed aortic valve), high blood pressure, thyroid issues, deafness and blindness can develop, and there are some other things that we are simply more susceptible to than other people, like gluten allergies and skin cancer (no tanning for me!).

There are awesome support systems that help girls and women who are diagnosed with Turner syndrome — the Turner Syndrome Society is a very good one, and there are a few local groups who are there to offer each other support and friendship.

For more information on Turner Syndrome, please go to: (a great source of information!).

Christina Frey is an English senior. Email