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…

http://www.youtube.com/watch?v=zBxufxjIgSA

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