I remember learning about Turner's Syndrome. I was sitting in psychology class just a few months earlier, when it was mentioned as a genetic mutation. I remember thinking, "Hmmm so are they girls?"
To know Turner's Syndrome, you first have to know a little bit about genetics, very simple stuff. Men's sex genes are XY, and women's sex genes are XX. Our genes that determine much of everything about us are carried on these genes. A girl with regular Turner's Syndrome has what is known as XO. She has one X gene and that is all. Lily, has mosaic Turner's Syndrome, so that means she has one full good X gene and one X gene with some genes, just not all on it.
What does Turner's Syndrome mean? It means a few things. Lily will be shorter than everyone else. The average height of girl's with Turner's is 4'7". She was on growth hormone shots daily for a while, and once we get her new doctor figured out, she will go back on them again. They hope to get her closer to 4'11", 5' with these shots. Some girl's with Turner's have a variety of heart problems and conjoined kidneys in the shape of a horseshoe. I thank God every day that she has neither of those, however we do go to a cardiologist once every 2 years to get an ECHO and EKG to make sure that her heart is still looking good. She also has problems with logical thinking, like puzzles, and other learning disabilities. While most kids in Lily's class can identify and write all of their letters, I just got Lily to write her name, and she can only identify 16 of the 26 letters in the alphabet. She is in a Special Ed program now, and seems to be doing ok. She is behind her peers, but I am very proud of how far she has come. The saddest part to me, is that she won't be able to conceive her own children. Sometimes, girls with Turner's can have in-vitro, it is going to depend on a few different circumstances.
On Monday January 3, 2011, she went in for her latest test, an endoscopy, and it has been confirmed that she has Celiac's Disease. Celiac's disease is a gluten intolerance, so all gluten (wheat, barley, rye) has to be removed from her diet. It's just another step.
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