Some people have trouble finding what’s medically wrong when they can feel deep down that something is the matter. I was one such person, and I didn’t really even know it until I was in my early 20s. What were my symptoms? How did I find out what’s wrong, and what makes it different? What would I suggest that others who have my problem do? These are all questions to consider, and ones which I can easily answer.
I didn’t realize anything was wrong with me until I was 16. I was short, stocky with broad shoulders, and I hadn’t gotten my period. I felt something was wrong with this last one. I went to my mother and let her know. She told me she’d talk to my pediatrician. My mother came to me a few days later and told me that he told her to come back if I turned 21 and had no change. I thought this completely ridiculous, but he was the doctor and she was my mother, so I figured if she trusted him, I would. I’d known the doctor for years, and he did mean well. Time passed. 1993 came, I was 20 years old, and I still hadn’t begun my period. I told my mother again, and told her that something was wrong with me. I wanted to see a gynecologist, so she took me. The gynecologist said he was determined to find out what was wrong with me, and started with a DNA workup since it was the early ’90s and I’d never had one before. At least a week later I sat with my mother holding my hand in front of his desk as he told me “I’ve read about this, but I’ve never seen an actual case of this before. You have Turner’s Syndrome.”
I’d never even heard of this before. It happens when a mutation causes there to be only 1 X chromosome, instead of 2. It’s rare, and only 1 in 2,500 females born have this, and over 71,000 of women in the U.S. have TS. Only about 1% of fetuses with TS survive to birth, and about 10% of miscarriages are due to TS.
I’m blessed to be alive, but TS screws my whole body up, including my reproductive system. Women with Turner’s Syndrome can’t have their own children. Mother’s Day really hurts for me. We also have a host of other problems including thyroid, diabetes, hypertension, foot problems, kidney problems and more. I’ve had a stroke, and so I deal with things day by day. Some days are better than others for me.
My first advice to people who have this: Make sure you have a doctor that knows how to deal with your problems and see them regularly to keep the many problems we can have at bay. Take care of yourself and do what your doctor says. Make sure you see your gynecologist to make sure you’re ready for sex. I wish I had. Finally, if you’re a pregnant woman expecting a girl, get a karyotype blood test done. If you know before the child is born, the better prepared you will be to help her. If a woman has the proper care from birth, she can live a completely normal life.
All statistics are from http://www.turnersyndrome.org/.
