Turner's Syndrome and Princess

Awhile back I told you that I would talk about Turner's Syndrome someday. Well I guess today is as good as any day. I am going to attempt to keep this as short and as informational as possible for you. Please understand that I am not a doctor, and this is basically how I understand what I am about to write. I may not have all the facts correct.

My daughter was born with TS, it's not hereditary or anything like that. It's basically a fluke. Before she was born I had never heard of TS before. I went through a crash course after she was born. Back then there wasn't a lot of info on the web that was in people language. There were a bunch of really big words for me to try and read, and I ended up more confused than when I first began researching TS.

First a quick lesson on cells and chromosomes. the body is made up of cells, which are our DNA. The cells are, for lack of a better word, the envelopes that hold the chromosomes that tell the body how to make us. In each cell there are supposed to be 46 chromosomes. The chromosomes are the things that say whether we have blond hair, eye color, how many fingers...you get the idea. Girls have two X chromosomes in each cell, and boys have a Y (that's where they get that testosterone from. I'm kidding I have no clue on that.) and an X chromosome. Ok, I told you it would be quick, moving on.

Only girls have TS, due to an X chromosome either missing or a different variation of it and I will cover that in a bit. About 99% of the fetuses spontaneously abort themselves due to sever complications. So whenever you hear a mom say that her TS daughter is a miracle, she speaks the truth. They are our miracles. They all come with a wide variety of medical concerns, from sever to mild, and no two are alike.

There are three types of TS, the first one being Monosomy or Classic Turner's, about 50% of TS girls have this kind. With this kind the chromosome is completely missing. The girls who have this type show the most physical features and medical conditions. This is the type that Princess has, and I will get into this more.

The next type is Mosaicism Tuner's and about 30-40% are born with this type. With this type they have some of the 46th chromosomes or only part of the 46th chromosome. There's no set order to this, so each girl will have different things going on. Girls with this typically don't show as many physical features, or have as many medical conditions. Some will menstruate, and can become pregnant but go through a very early menopause. They are also not diagnosed until usually later in life due to the lack of TS physical features being absent.

The last type is Ischromosome which occurs in 12-20% of girls. The features and medical conditions are similar to the type Monosomy.

Now onto Classic Turner's. With this type there are many physical features that are present. With Princess the fact that her hands and feet were puffy was the initial indication that she had TS. I'm going to list some of the physical features that are usually present with this type. Not every girl has these and I am not going to list them all as the list can be long. Of the following, Princess exhibits seven of the features plus more not listed.

short stature

a low hairline at the back of the neck 

broad chest 

small jaw 

a narrow, high arched palate 

shorter fingers 

soft, spoon shaped fingernails 

prominent ears 

Nearly half of the females with Turner syndrome have a condition known as lymphedema resulting in puffiness in the hands and feet at birth. 

Some of the medical conditions are as follows:

underdeveloped ovaries or non existent

constricted aorta- Princess has a bi-cuspid aorta and widening of the aortic root

misshapen kidneys, or horseshoe kidneys- one of Princess's kidneys is slightly bigger than the other

Eustachian tubes do not work properly and cause middle ear infection and possible hearing loss

short sightedness

scoliosis 

thyroid problems

The chromosome that is missing is the one that tells the body to keep growing, and to go through puberty. Most TS girls take growth hormones to grow and later take estrogen to develop a normal female body. Some TS girls prefer not to go these routes.

When Princess was born the doctor told me that she could be severely mentally disabled or a genius. (way to close that gap there doc) If she actually used her brain she would be closer to the genius range, just saying. There is however a common learning impairment that is associated with TS and it is called Nonverbal Learning Disability. This means that there might be problems with math, and  they may find visualizing objects in relation to one another more difficult, this is called visual-spatial relationships.

Well thank you for reading this post, if you know a girl or woman who might show the signs of TS let them know they are not alone, and there is help out there. People often ask me if I'm mad at God for this, and my honest answer has always been...absolutely not. He decided that she was the perfect child for me, and I the perfect mom for her. Together we can educate and inform others of this Syndrome and let them know there is nothing to be afraid of. 


Ok so I have no idea what I did to make some of this weird looking, and I have no idea how to fix it...sorry folks. Just been one of those days.