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.
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.