It's positive-I DO have mosaic turner's syndrome

Although I was suspecting it all along, my brain is still reeling a little bit from my genetics appointment today. I do have low-level mosaic turner's syndrome. My exact karotype is 45XO (4) 46XX (26). What this means is that they analysed 30 of my blood cells, and of that 30, 4 were missing one of the X chromosomes. The other 26 were normal.

So what does this mean? We already knew that I had some of the classic signs of the disorder
-short stature. My height is EXACTLY the average height for untreated Turner's women (4'9)
-my bicuspid aortic valve (a common heart defect in those with Turner's)
-short fourth and fifth metacarpal bones.
-menstrual irregularities, although not crazy
-'big feet' at birth. Which is strange given that through childhood, my shoe size was always appropriate for my height.

What we don't know yet is if I have anything else 'funky'. I had a LOT of blood work done today and a urinalysis. Including in the bloodwork were hormone panels, glucose, thyroid antibodies, kidney function levels, electrolytes and more.

What I have been referred for...renal (kidney) ultrasound, pelvic exam and ultrasound, bone density screening, and referral to a fertility clinic. Maybe other stuff in there, I can't remember everything. My friends, when I texted them the results asked "So what happens now?" and my response was "A bunch of tests!"

Thankfully, there is support out there. Right now, I have a great group of women in my life that I have been turning to. I managed to explain things to my dad, and he seemed to understand, even though math and science are not his strong subjects.

A bunch of the quirky things of my life have been answered. Of course, I'm ticked that this wasn't figured out when I was a little girl, because if growth hormones had been initiated, I likely could have reached 5 feet. It may not seem like that much...but it's difficult being the size of a junior high student when you are an advanced university student!

Knowing is empowering. Turner Syndrome Canada has a PDF that you can take to appointments to know what you should be tested for, and when. I definitely bookmarked it!

Only about 2% of girls with Turner's Syndrome make it full term. This was in the days BEFORE a lot of 'termination for medical reasons' occurred. I am MAD BEYOND BELIEF whenever I hear about 'termination for medical reasons' when it comes to Mosaic Turner's Syndrome in particular. There are WAY too many myths out there (ie, girls with Turner's are retarded-this is INCREDIBLY rare) and it's literally killing girls. Girls who could become women like me.