I want to hug you omg!
*waves* Hi! One of your posts came up when I did a hash tag search, so I followed you. It’s so nice to meet someone else who has it. *hugs* I’m Brooke.
» CLOWNS «
C = Cardiac Abnormality; COARCTATION
L = Lymphedema (due to poor lymphatics)
O = Ovaries not developed = amenorrhoea/sterility
W = Webbed Neck
N =Nipples widely spaced
Turner’s Syndrome is a genetic disorder. You may remember from JR High genetics that girls have two X chromosomes and boys have an X and a Y chromosome.
Not so much with girls with Turner’s. There are two types. There’s the… I guess “regular” kind [for lack of a better word], in which the girl is born with only one X chromosome. Then there’s “mosiaic” , in which the girl will have both X chromosomes, but in some cells they only have one. [I have the “regular” kind. Yay, me?]
So…what does that mean?
The most notable thing – it makes us short. The average height of girls with Turner’s who do not go undergo growth hormone therapy is about 4’8. [I did go through it, and I’m about 5’0 now].
Most [like, 90%] of girls with Turner’s have ovarian failure. Which means we don’t get enough hormone to produce our secondary sexual characteristics. Which means, we need estrogen supplements to kick start puberty. And most of us won’t be able to have children, but with modern technology it is possible with a donor egg. Or we can adopt to become mothers.
It makes math REALLY difficult for us. Most of us are of normal intelligence, with the same variance as the normal population. But, we tend to have issues with spatial-temporal processing (imagining objects in relation to each other), nonverbal memory and attention. This may cause problems with math, sense of direction, manual dexterity and social skills.
There are other physical features associated with Turner’s, with a whole lot of individual variance. It includes:
- Narrow, high-arched palate (roof of the mouth)
- ·Retrognathia (receding lower jaw
- Low-set ears
- Low hairline (the hair on the neck is closer to the shoulders.
- Webbed neck (excess or stretched skin)
- Slight droop to eye.
- Strabismus (lazy eye
- Broad chest
- · Cubitus valgus (arms that turn out slightly at the elbows
- Scoliosis (curvature of the spine)
- Flat feet
- ·Small, narrow fingernails and toenails that turn up (usually if lymphedema was present at birth)
- ·Short fourth metacarpals (the ends of these bones form the knuckles)
- Edema (swelling) of hands and feet, especially at birth.
As you can imagine, shopping can be a pain.[Short with wide, flat feed. Tres annoying], and some us “look funny”- which of course can lead to self confidence issues.
We’re at a greater risk of a host of other medical problems, so we need to be monitored carefully. This includes
- Heart Problems
- Kidney Abormalities.
- Ears- we get a lot of ear infections. And we tend to get nerve hearing loss earlier [and therefore need hearing aids sooner] than the typical population.
- Celiac Disease.
- Due to low estrogen, we are at a greater risk of Osteoporosis.
As you can imagine, Health Insurance is EXPENSIVE for us.
Other than that, most of girls with Turners have a normal Life Expectancy and live normal lives.
Turner’s Syndrome is rare.
So I know for a fact, that the diagnosis and living with it in general can make a girl feel alone. I, myself, was diagnosed when I was 11. I know what it’s like.
But, we’re not alone. 80,000 girls in the US have it, with another 800 cases diagnosed each year. That’s a lot of girls and families who have to struggle with it.
THIS is why I made this a blog. A place to connect, talk about our experiences, offer support, raise awareness, and generally be there for each other.
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