Turner Syndrome
Posted: Sun Apr 24, 2011 1:17 am
With today being Easter, and the biggest of all miracles having occurred on this day, some 2000 years ago, I started thinking about one that has happened during my lifetime. I am not sure how many of you guys know what Turner(s) Syndrome is...here is a short definition of the disease:
You can read more about it here:
http://www.turnersyndrome.org/what_is_ts.htm
From answers.com:
The prevalence of Turner syndrome is widely reported as being approximately one per 2,500 live female births, although researchers have reported prevalence rates that range from one in 3,125 to one in 5,000 live female births. About 1 to 2 percent of all female conceptions have a missing X chromosome. Of these, the majority (99%) spontaneously abort, usually during the first trimester of pregnancy.
98 or 99% of all TS pregnancies end in miscarriage (depending on where you look). One of my best friends has Turners, and it is hard to think of what the improbable chances are that I would end up becoming her friend (let alone the fact she is alive). Her and her twin brother were both born 3 months premature, because the doctors were concerned her brother was going to kill her (they didn't find out she had Turners until later), which makes her exactly 10 days older than me (versus me 3 months older). Ironically, she did fine in the hospital and was released before her brother was (who happened to struggle for his life). She is now 5'0" and he is 6', talk about differences between them! It is hard to believe they are twins.
Now, to get even weirder on you guys, I originally "met" her online...I watched a movie and looked up the true story about it, when I ran across a chat site set up around the movie and the story behind it. When we first met, she was depressed and things were going pretty bad for her...but now she is happy and graduated high school and is only a year o so away from graduating college. What a trip it took to get her to this point, a couple years of darn near hell for the both of us, but I personally think it was worth it. We finally did meet in 2009, after almost 4 years, right before I deployed to Iraq (she lived literally on the opposite side of the country...I lived about 15 miles from the Atlantic, she lived about 5 miles from the Pacific...can't get much further than that!)...and met up again after I got back.
Just think of how unlikely our first chance encounter really was, let alone that she is alive today. She looks pretty much like any average girl, except she is shortish (but I know quite a few girls her height or right around there). I'm not sure why it just hit me this Easter, how special she really is, and honestly, thinking about how different my life would be without her in it (and vice versa).
Figured I would pass along that story...even though it was more like rambling, yay for being up late!
A picture of her and I waiting on dinner:
Myself using her as an armrest (if anyone else had done that, there would've been injuries to them haha)
Turner syndrome (TS) is a chromosomal condition that describes girls and women with common features that are caused by complete or partial absence of the second sex chromosome. The syndrome is named after Dr. Henry Turner, who was among the first to describe its features in the 1930's. TS occurs in approximately 1 of every 2,000 female births and in as many as 10% of all miscarriages.
You can read more about it here:
http://www.turnersyndrome.org/what_is_ts.htm
From answers.com:
The prevalence of Turner syndrome is widely reported as being approximately one per 2,500 live female births, although researchers have reported prevalence rates that range from one in 3,125 to one in 5,000 live female births. About 1 to 2 percent of all female conceptions have a missing X chromosome. Of these, the majority (99%) spontaneously abort, usually during the first trimester of pregnancy.
98 or 99% of all TS pregnancies end in miscarriage (depending on where you look). One of my best friends has Turners, and it is hard to think of what the improbable chances are that I would end up becoming her friend (let alone the fact she is alive). Her and her twin brother were both born 3 months premature, because the doctors were concerned her brother was going to kill her (they didn't find out she had Turners until later), which makes her exactly 10 days older than me (versus me 3 months older). Ironically, she did fine in the hospital and was released before her brother was (who happened to struggle for his life). She is now 5'0" and he is 6', talk about differences between them! It is hard to believe they are twins.
Now, to get even weirder on you guys, I originally "met" her online...I watched a movie and looked up the true story about it, when I ran across a chat site set up around the movie and the story behind it. When we first met, she was depressed and things were going pretty bad for her...but now she is happy and graduated high school and is only a year o so away from graduating college. What a trip it took to get her to this point, a couple years of darn near hell for the both of us, but I personally think it was worth it. We finally did meet in 2009, after almost 4 years, right before I deployed to Iraq (she lived literally on the opposite side of the country...I lived about 15 miles from the Atlantic, she lived about 5 miles from the Pacific...can't get much further than that!)...and met up again after I got back.
Just think of how unlikely our first chance encounter really was, let alone that she is alive today. She looks pretty much like any average girl, except she is shortish (but I know quite a few girls her height or right around there). I'm not sure why it just hit me this Easter, how special she really is, and honestly, thinking about how different my life would be without her in it (and vice versa).
Figured I would pass along that story...even though it was more like rambling, yay for being up late!
A picture of her and I waiting on dinner:
Myself using her as an armrest (if anyone else had done that, there would've been injuries to them haha)