Posts from the ‘Turner’s Syndrome’ Category

TS Awareness – Post #3

So there’s a page I ran across on Facebook that listed Ten Things About Turner Syndrome.  I thought I’d use that list to help share some information about Turner Syndrome that others might find interesting or useful to know.

3.  People who are missing the X chromosome in some of their cells are said to have “Mosaicism” or “Mosaic Turner Syndrome”.

This is me.  This is why I don’t have the heart and kidney issues many TS girls have.  Think of this as just an extension of the genetic differences between individuals.  Each TS girl is going to differ in some way, especially if she’s Mosaic.

(Sorry for the delay, weekends are busy and I’m off on Mondays right now.)


TS Awareness – Post #1

So there’s a page I ran across on Facebook that listed Ten Things About Turner Syndrome.  I thought I’d use that list to help share some information about Turner Syndrome that others might find interesting or useful to know.

1.  Turner Syndrome (TS) means someone is missing or partially missing their second sex chromosome.


courtesy of

This picture shows why TS may be referred to as 45XO.  There are two types of TS based on whether or not an individual is missing all or just part of that second sex chromosome.  If she’s missing all, that’s considered Classic TS.  If she’s missing part, that’s considered Mosaic.

DNA is code for how to build or run a human body so it stands to reason that the more of that code that’s missing the more symptoms or manifestations of TS the girl will have.  TS is diagnosed via a DNA test called a karyotype where they kind of map out the chromosomes.

What traits of TS a girl exhibits will depend on what part of the chromosome is missing.  For me, I’m not missing the part with the code for my heart or kidneys that result in those problems.  But I am missing some of the DNA information for height and reproduction.

just call me Sally Talley…

One of the biggest issues, really the “only”, I face with being a butterfly (a girl with TS, Turner’s Syndrome) is infertility.  Essentially, I’ve known since junior high/ high school that I wasn’t going to be able to have kids.  I don’t think it really sank in a whole lot in until much later exactly what that meant and that it meant it for me.

I grew up with the idea that I’d go to college, graduate at 22, be married at 24, and have kids by 30.  You know, like my parents and every other girl probably thought, too.

But that was before I was diagnosed.  And before I thought much about dating.  And before I thought much about marriage.

It was hard for me to say anything to anybody about having TS, much less discuss the fact that it meant I couldn’t have children of my own.  I don’t look any different than anybody else.  I mean, I’m short, but there are plenty of short people in the world anyways.  So I never tried to explain why I was short.  To be honest, it would have been difficult to explain and I was never very sure I knew myself all the whys.

I never really dated in high school or college, for a number of reasons.  But when I did start dating once I was older, I did make sure that I was honest with the guys I was talking to or in a relationship when it came to talking about children.  It was awkward and kind of hard, but I knew that if they couldn’t accept that about me, they were NOT the one for me anyways.

I started dating Anthony in October 2006 and we got married in January 2010.  He has been so good to me and so very understanding.  He was a fantastic nurse to me after my recent hysterectomy!

Why did I have a hysterectomy?  The short answer is that my HRT (hormone replacement therapy) had essentially caused my endometrial lining to thicken.  While nothing was current wrong from what she could tell, this made it easier for bad things to happen (cancer, cysts, polyps).  She gave me two options.  One was to have a DNC where they would essentially clean everything out and biopsy it just to check it out.  This did leave the possibility that it could thicken again later on since I would still be on an HRT.  So my other option was to have a hysterectomy.  Mine would be a complete one since my ovaries had never developed anyways.  This option just made sense, rather than wasting time and money just to end up with this one anyways.  Also, this was something I had always had in the back of my mind somewhere as an option that I would have to take at some point.

Not being able to have children with Anthony has hit me hard a time or two, but not since my surgery.  I suspect it will hit me again at some point.  And while that does hurt, I do know that adoption is an option in the future.  (Maybe even a better one?)  But I do focus on the blessings right now of not having children, of being able to “pick up and go” or “go and do”, of not having to either take them with us or arrange for their care in the meantime.  Life IS good just the two of us!

Oh!  Why Sally Talley?  I’m spoiling the plot a bit, but she’s a character I can relate to from the play Talley’s Folly.  Sally struggles with her own fertility and reluctance to admit that it’s what “plagues” her at times.  She does break down and admit it to Matt, her love interest and beau in this two-person show.  She’s just another reason I fell in love with theatre.

the girl who lived…

In the middle of the afternoon on June 11, 1976, there was a 6 pound, 13 ounce baby girl born.  She was about 19 1/4 inches with blonde hair and blue eyes.  No one knew she was lucky just to be alive.  She might have been little, but evidently she had some spunk to her.  She was taken to Birmingham’s Children’s Hospital because of a heart murmur.  She was also diagnosed as “failure to thrive,” which I’m sure scared her 22-year-old parents to pieces in addition to the heart murmur.

such a cute baby

What they didn’t know was that “failure to thrive” was actually a misdiagnosis.  You see, in order to diagnosis a baby as “failure to thrive” there has to be no other explanation for the lack of progress in growth.  This baby is me, in case you didn’t figure that one out, and what they didn’t know was that the reason I was so small and not seeming to grow at a normal rate is that I have what is called Turner’s Syndrome, named after the doctor (an endocrinologist) who identified it in 1938.

Turner’s Syndrome (TS) is a chromosome abnormality where one of the X chromosomes is either completely missing or is partially missing.  This can also either affect all cells or some cells.  If it affects only some, this is usually referred to as Mosaic TS.  This is, however, strictly a disorder that affects women.  I would say the primary characteristic is short stature, that’s most common among TS girls.  Many times, TS girls are prescribed growth hormones (GH) in order to promote growth and increase the potential height of the patient.  Other physical traits are webbing at the neck/ fingers/ toes, drooping eyelids, up-turned fingernails, low-set ears, a receding or small lower jaw, among others listed here.

There are also not as obvious issues that are prevalent in TS girls.  Internally, there are heart and kidney issues that may arise.  Hearing and eyesight may also be affected.  (I would imagine blindness and deafness are not uncommon possibilities.)  Often, ovaries are often not developed or are underdeveloped, often resulting in infertility.  Because of these potential organ issues, there are other “side effects” of TS to look out for: high blood pressure, diabetes, ear infections, UTIs (urinary tract infections), ovarian malignancy, hypothyroidism, and others.

I’m one of the lucky ones.  While I wasn’t approved to receive GH, I’m probably in the 95th percentile for TS girls (as opposed to probably the 5th percentile on a normal growth chart).  The only real organ impact was my ovaries.  (So no, I can’t have kids, but we might adopt later.)  I am on a hormone replacement therapy (HRT).  I’m also on medication for Type 2 diabetes, high blood pressure, and high cholesterol.

Now why am I one of the lucky ones?  About 99 percent of TS fetuses do not make it past the first trimester.  (It’s believed that TS accounts for roughly 10 percent of all spontaneous abortions in the United States.)  And about 1 in 2,000 live female births is a TS girl.  So I feel lucky to be alive and lucky not to have the problems I could have with this abnormality.

me and my husband, Anthony

This is a sweet TS friend who lives in Lithuania…