Turner's Syndrome

The Unfortunate News

My name is Amy Elizabeth Cimorelli.

I'm 20 years old and I was born in Sacramento California and I now live in Nashville, Tennessee.

So to start of with I am one of 11 children in my family and they are all just beautiful and tall and I used to be jealous of them, but I don't have to anymore because I've really embraced my small size, even though I sometimes wish I was taller (so I could reach the top shelf without jumping for something).

Anyway, I have 5 sisters and 5 brothers and they were all really supportive of what I had to go through.

So I have what's called Turners' Syndrome and its a really rare genetic disorder and it only affect 1 in every 2000 girls and it can only be contracted by girls as well.

Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function (ovarian hypo function or premature ovarian failure) is also very common. The ovaries develop normally at first, but egg cells (oocytes) usually die prematurely and most ovarian tissue degenerates before birth. Many affected girls do not undergo puberty unless they receive hormone therapy, and most are unable to conceive (infertile). A small percentage of females with Turner syndrome retain normal ovarian function through young adulthood.About 30 percent of females with Turner syndrome have extra folds of skin on the neck (webbed neck), a low hairline at the back of the neck, puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, or kidney problems. One third to one half of individuals with Turner syndrome are born with a heart defect, such as a narrowing of the large artery leaving the heart (coarctation of the aorta) or abnormalities of the valve that connects the aorta with the heart (the aortic valve). Complications associated with these heart defects can be life-threatening.Most girls and women with Turner syndrome have normal intelligence. Developmental delays, nonverbal learning disabilities, and behavioural problems are possible, although these characteristics vary among affected individuals.

So when I was about 5, I stopped growing and we all thought "uh this is weird" and its really frustrating to not know what's happening to you. So we finally found out a few years later after we had started trying to figure it out that I had turners' syndrome but even then the doctor didn't even really know what it was, and it frustrated a lot of us I guess. And I had to do the hardest thing for me ever which was giving myself a shot which I couldn't do for a long time because I had to take growth hormones everyday and my mom would give them to me in the beginning and I'm just really grateful that she helped me through this process, but you know being this way has really made me strong and its made me who I am today.

I am now standing tall at 4ft 10'