Turner Syndrome

I was born with Turner Syndrome, a random chromosomal abnormality where there is a missing or abnormal second X chromosome in some or all of the cells in the body.  The genes affected are involved in growth and sexual development, which is why girls with this disorder are shorter than normal and have abnormal sexual characteristics.  Surprisingly, 1 in 2000 women have Turner Syndrome.

My first introduction to Turner Syndrome was in my high school library.  My friend and I were doing research for a paper.  I’m not sure what the paper was on, but somehow I came across Turner Syndrome in the encyclopedia.  Since I was short and hadn’t gone through puberty yet, the symptoms caught my eye.  I ran to my friend and said “Beckie, I know I have this!”  The issue was quickly forgotten among the worry of our impending paper deadline.

When I was 17 my mother was very concerned that I still had not gone through puberty.  This initiated trips to the pediatrician, general practitioner, and finally to the Oregon Health Sciences University in Portland.  After being poked, prodded, and made to pee, we were sent back home to await the results.

“You will never be able to have children.”  These were the only words I remember of the conversation that took place between me, my mother, and my general practitioner when my diagnosis of Turner Syndrome was finalized.  Deep down I felt he was telling me something I already knew in my heart.  It did not shock or surprise me.  It did, however, break my heart that the diagnosis seemed to affect my mother more then me.

Before the diagnosis, I didn’t really feel different.  Yes, I was short and hadn’t developed, but just thought I would somehow “catch up”.  After the diagnosis, I started feeling different – like I was odd.  I went on hormone replacement therapy (HRT), and hated it.  I hated it because every day it reminded me that I was not normal.  I was okay with not having children.  But the fact that I was not “normal”  devastated me.  I didn’t know anyone else that had Turner Syndrome, and honestly didn’t really have any great need to find anyone else that had it or even discuss it.  My mantra was “BE NORMAL.”

I didn’t date a whole lot, but when I met my future husband, and knew the relationship was serious, I was completely honest and told him the truth.  His response was “Shelly, I love you – not your ovaries.  If we want kids, we can always adopt.”  That’s when I knew I made the right choice.

I didn’t meet anyone else that had Turner Syndrome until the TSSUS Conference in Seattle in 2004.  I was thrilled to meet so many bright, beautiful women that were just like me.  They had the same issues, concerns, hopes, and dreams that I did.  The average height of a TS women is about 4’8”, and with me standing at 5’¼” (yes, I claim that ¼”!), I fit right in!

Aside from the infertility, the main health issues I’ve dealt with are my eyes (I’m severely nearsighted), my ears (multiple ear infections have left me hearing impaired, for which I wear hearing aides), and my thyroid (hypothyroidism).  Luckily, my heart and kidneys are good, which are some major concerns as TS women get older.

I have always been directionally challenged, and get lost going anywhere – except when I’m at a mall.  My husband gave me a GPS a few years ago for Christmas, and it was probably one of the most thoughtful gifts I ever received.

Turner Syndrome is not something that I should ever be ashamed of because this is the way God made me.