Turner’s Syndrome – A Different Perspective

 

 

12524303_10153403504641452_786637497669589339_n  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!”.FB_IMG_1450011958148

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 12688388_10153430432661452_1563953577305554761_n

Much love,

Colleen ❤

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