Hey everyone !
I know it’s been so long since I’ve sat down & given you guys a real update on what’s been happening. I don’t really want to look at this as an update though; I guess you could look at it as somewhat of a different perspective than what I had when I was younger and diagnosed with Turner’s syndrome when I was 3.
So, for those just joining or looking at the page, that’s where I’ll start. I was diagnosed with TS when I was just 3 (August of ’98); my mom received the call from the doctor. He explained to her what TS was; how it’s a chromosomal disorder only found in females. 1 “X” chromosome is either missing or damaged (1 in about every 2000 women are diagnosed). I don’t remember much about this, but mom loves to tell the story about how I ran up to her when she got off the phone and said “don’t cry, mama! don’t cry!”.
From there, it was all hospital visits and appointments with the doctor to figure out what to do; which treatments or care would work best for me? I began growth hormone shots soon after my diagnosis; this would help with the short stature associated with TS (you can find more info on my site, http://www.colleenjoyce.net, or visit the Turner Syndrome Society of the US website). I stopped taking those when I was 15, and am proud to say I reached 5’3 in height! Now, when I had turned 13 was when the talk got a little more serious. We began talking with my endocrinologist, the amazing Dr. Karen Rubin from Connecticut Children’s Medical Center, about how we could treat the symptoms such as a lack of menstruation/infertility. I now wear an estrogen patch on my hip and take a progesterone pill as well to help with this. Needless to say, it’s all worked out great!
Anyways, now that I’m much older at 20 years old, I look at a lot of these things in a much different light. I know that had I not received some of the care I did when I was younger, things could be a lot worse for me, and for that I feel so so lucky. I know that there are many girls diagnosed with TS later in life than I was; I also know that many do not have the opportunity to receive any of the treatments that could make life a little easier on them. This is why I find awareness to be so important, and want to do what I can to help those less fortunate than I am. I’m very open to sharing my story; I have been since I was about 10 years old. I’ve made it my life’s mission to give support and advice where I can, to show women and younger girls with TS that it’s all going to be ok, no matter what. If I can be that source of hope and light, then I know I’ve done my job. I also want to encourage others to get your story out there; it’s ok to be true to who you are and show others what it is that’s important to you. Speak up and be a voice for those that you know who can’t. You can, and will be able to do things you never thought possible. I do the best I can in school to study hard and get good grades; I work as a Resident Assistant for my college as well. Health and fitness has also become a huge part of my life as I know how important it still is to take care of myself and remain as healthy as I can.
I’m also extremely, extremely grateful to have the support system that I do, with some amazing family and friends. You mean a lot, and I don’t know what I’d do without you all!
“Act as if what you do makes a difference. It does.” ~ William James