I was diagnosed – officially, finally – with the mosaic form of Turner’s Syndrome less than two weeks ago, but it’s been a long path to get here. I am 37 years old.
There’s very little information out there, and most of it is on Turner’s Syndrome itself, and not the Mosaic form. Because we’re all different. Because this syndrome shows itself in so many different ways, and we can have any/all of the associated issues.
And when I looked to find a support group, so many of them are for expectant mothers who are trying to make the decision of whether or not to continue with a pregnancy when they’ve discovered the daughter they’re expecting has this syndrome (I’m sure I’ll write more on that later).
So I’ve decided to tell my story. Because maybe there’s a woman out there looking for answers too, who needs to hear that she’d not the only one questioning and wondering and hoping.
So, here’s where it started for me.
I was born to two young, energetic, loving, growing people. Neither of them had any medical issues, although eight years later my Mom would be diagnosed with Hypothyroidism. They’re both normal height. I was first born, and had no developmental issues at all.
Two years (+ a handful of months) later, my sister was born. Silent beautiful movie star to my red-faced screaming in our baby pictures. It’s funny because we grew up completely the opposite : I’ve always been the more reserved one, while my sister J is the one who eats up life like she’s got no choice.
I developed normally. I started reading at two (Mom claims I taught myself because it was “just something you wanted to do” and “you’re stubborn like that!”) and have been a Reader since then. I got all “A”s in school until freshman year when I had to actually work at it, then it was mostly “A”s with a coupla “B”s and maybe a “C” in math thrown in.
I was small for my age, and by 3rd grade had slowed growing. I’d only gain an inch or so a year, while my sister gained three or five. Both of my Grandmothers are short, and my parents chalked my height up to that, although they did take me to a Pediatrician just to be sure.
The visit wasn’t that big of a deal. He x-rayed my hands. Told my parents that there was nothing to worry about, I’d be lucky to hit five foot, but I still had more growing to do. They could try growth hormones, but it wasn’t really worth the risk, and five foot was still fine for a girl. He mentioned that if I didn’t start menstruating until I was 18 or 19, that’d be great, it’d give me more time to grow.
At 12, I developed breasts. High B/Low C which was small for my family, but okay everywhere else. I hit 4’11, which has always been fine with me. And, I learned quickly, a great way to meet guys since it seems to be an awesome icebreaker.
My sister started having periods at 10. And it was weird for a little while, and it bothered me occasionally. But there was still that Pediatrician who, as my Mom reminded me, told me I would just develop a little more slowly and it was okay. A year later my younger sister was diagnosed with Hypothyroidism as well, but that seemed to be a bullet I’d dodged, although almost every female on both sides of my family for generations has it.
Not many people knew, and in every other way I seemed like every other girl. So, for a long time, that was okay too.
Mosaic Girl 