Turner Point

When I was about 11 years old I got sick with a bad cold or flu.  At the same time I had also developed a goiter.  My eyes protruded and my neck had a tire like bulge.  The doctor ran some tests and we discovered I had a thyroid condition.  It would require daily medication and was easy enough to treat.  However, I also wasn’t growing.  At the time I was hovering well below 5′, despite my parents being taller than average.  My dad is 6′ and my mom is 5’8″.   Further tests lead to a more devastating diagnosis of Turner Syndrome (TS). Essentially I was born missing one of the two X chromosomes every girl and woman has.  This leads to short stature, infertility, and a variety of other possible complications.  This is a rare condition affecting 1 out of 2,000 to 5,000 female births, and only about 1% to 2% of embryos with this condition are actually born.  With this diagnosis my life became a regular series of doctors appointments as I was growing up.  I was placed on a protocol by my specialist, and as her oldest patient I was a test subject for her as well.  This protocol consisted of Human Growth Hormone (HGH) and Estrogen Replacement Therapy.  I had a sonogram of my kidneys to make sure they were formed correctly.  I regularly got x-rays to see how my bones were fusing.  This was certainly a difficult thing to face during adolescence, when a child may already feel different, to have a genetic test confirm, indeed you are quite different.  I could get angry at God for giving me this to deal with, but I never have.  I have the sense that I am lucky to have been given the life I was, despite it’s imperfections.  It is part of my life, and something I have to deal with on a regular basis.  I will never have a child of my own, and can only get pregnant using a donor egg and IVF.  Adoption is something I have tossed around, and the idea of giving a child a home and family that needs one seems to be the route I would feel comfortable taking.   Why try to crate a child when I would face a more than risky pregnancy, why not find that child who needs me?  I feel that might be my purpose if I am to become a mother.  I am at risk for heart issues, diabetes, eye problems, osteoporosis, hearing loss, just to name a few.  Since there are limited women and girls with this condition to study, it isn’t easy for doctors to know with certainty what issues a TS patient will face as they age.  I did reports on the condition in school to learn more, and had for a time thought I wanted to go into the field of medicine specializing in this and similar conditions.  My hope was to give assistance to others facing what I had faced.  Although I realized quickly my squeamishness would not be conducive to a career in medicine.  Besides and physical issues, there are the psychological issues that go with a genetic condition.  Dealing with infertility from such a young age is not easy.  It certainly sets a TS teenage girl apart from her peers.  Feeling like you don’t quite measure up to society standards is never an easy thing to deal with, and knowing how you don’t measure up doesn’t make it any more palatable.  It isn’t that TS makes a girl or woman masculine, but you certainly don’t feel like you are quite an average woman.  It is hard to feel like you can be accepted for who you are, when you feel so apart from the average.  Fortunately I am taller than the average TS woman, although this brings me to the conundrum of sharing TS with them, but somehow being different from them.  I feel that I can’t even fit in with TS right somehow, because I tower over them, so sometimes I feel where do I really fit in?  Where can I be accepted?  Hard things to wrap my head around.  Yes, every woman has her body issues, but this condition is so linked to your womanhood, accepting yourself is not without difficulty.  This diagnosis may not have been the most devastating by some standards, but it certainly changed how my life would play out.  I have faced unique challenges, and will most likely continue to do so for the rest of my life.


Posted on 04/29/2012, in Deep Thoughts, Hearing Loss, Life Bits, Turner Syndrome and tagged , , , . Bookmark the permalink. Leave a comment.

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