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.
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.
This is a sweet TS friend who lives in Lithuania…
5 responses to “the girl who lived…”
Roxy
July 15th, 2011 at 16:07
I am glad we were blessed with such a sweet girl and that you have become a mature Christian lady with a good husband. The older I get the more I realize that everybody is fighting some kind of battle. Your potential is unlimited and I am proud of you! Short people can be influential giants. Stay faithful and continue to move forward. Always know that I couldn’t love you anymore if you were 6 feet tall.
love you,
dad
ahrhoads2010
July 15th, 2011 at 16:13
Aw, I love you, Daddy!!
ahrhoads2010
July 15th, 2011 at 16:16
Also, feel free to ask me questions… I don’t mind!
Donna Germon
July 15th, 2011 at 18:39
Helen, I love this, I am printing it off for my daughter to read (as you know she is 9years old and also has TS). I am blessed to have her in my life, and I feel blessed to have found you also! Cheers, Donna
ahrhoads2010
July 15th, 2011 at 21:42
So glad you enjoyed it! This is exactly why I started opening up more about my condition… I want to help in any way I can. It can be a little lonely or daunting sometimes if you don’t really and truly KNOW there ARE other girls out there like you. This whole process has been a blessing to me… namely finding the group and the other girls!!