Turner Syndrome - My Personal Experience
I can vividly remember being in early elementary school and often coming home in tears.I remember the other kids making fun of me for being so short. They called me all kinds of names.When I was in 3rd grade my parents took me to my pediatrician telling him they were concerned with my size. He sent me to the hospital for 3 days of genetic testing. The result was a diagnosis of Turner Syndrome.
The easiest way to explain what Turner Syndrome is, is to start with the fact that most men and women have 46 chromosomes which are arranged in pairs. The 23rd pair is the sex chromosome. For most men this pair consists of and X and a Y (XY) chromosome. For women, it is a pair of X's (XX). In the case of someone with Turner Syndrome there is either a missing (XO) or damaged X within the pair. This means that all individuals with Turner Syndrome are female. One of the major characteristics of Turner Syndrome is short stature. The average height for someone with the syndrome is approximately 4'8". Another major characteristic is lack of secondary sexual characteristics and infertility. Without treatment, almost all women with Turner Syndrome will not go through puberty.
There are plenty of sites out there that go into great detail describing the medical side of Turner Syndrome so I won't mention any more about it here. Some of those sites include:
Since I am not a doctor, and all of that information is already readily available elsewhere, I would like to concentrate on telling my personal story of living with Turner Syndrome.
There are a small number of things that stick out in my mind about my initial stay in the hospital. In mostly chronological order they are:
- When I was first brought to my room I noticed that I had a roommate.My mom tried to make me feel better about being in the hospital by saying, "See her over there, she is still smiling. It can't be that bad." And the reply from the girl was, "Yeah, I am leaving today!" Ha, nice try mom.
- It took several tries and several nurses to get the IV in me. They eventually got a warm towel and were able to get it in.
- Someone came in every 20 minutes to draw more blood that would be "spun".
- I don't remember the details, but they did some sort of test where they made my blood sugar drop and would not let me eat. Wow, that made for a very angry and intolerable 9 year old. I remember yelling. A lot. I didn't understand why no one would bring me some food!
- They attempted to feed me bologna with huge pepper corns in it. I refused to eat it. Eventually the nurses ordered me a pizza from somewhere else :)
- My mom stayed in the hospital with me one night and we watched some sort of Hallmark special.
- My parents bought me a gift after the ordeal was over. It was the game Pictionary. I believe my parents still have it at their house to this day.
Not long after the hospital stay we went back to get the results. I remember watching the doctor draw lots of Xs and Os on the white paper they use to cover the hospital tables. I remember being told that I would most likely never be able to have children. I remember signing some sort of paper agreeing to be in a study. I remember doing this, but it does not entirely make sense to me. Why would they have a 9 year old sign a document like that? I think that is the entirety of what I remember about the day I was told I had the syndrome.
GROWTH HORMONE STUDY
I was put on a study where I was given free treatment and
frequent hospital visits. I was referred to a pediatric endocrinologist. As part of the study I was
free growth hormone from Eli Lilly, which I had to inject 3 times a week. I did it every Monday, Wednesday, and
Friday. The first few times we went
back to the hospital and a nurse did it for me, but then I started doing them
myself. At the beginning my mom would
usually mix up the "powder stuff" and the "liquid stuff" and roll it around in
one of the tiny bottles. Then extract
it with a syringe and then flick the air bubbles out of it. When I got slightly older my parents trusted
me to do the measuring and mixing on my own.
The shots were less that enjoyable, but generally not painful. It was a tiny syringe like the ones
diabetics use. I do remember the shots
would sting sometimes and the doctor told me it was probably from the alcohol
so I could wave my hand over the spot I was to inject into to help dry it off a
bit. Thanks to my mother, I don't
believe I ever missed a single shot in all of the years on the study. I had to go back to the hospital every 3
months for a full work-up -- a couple of
blood tests, fasting, x-rays of my wrists, measuring my height and weight. This eventually changed to every 6 months and then finally once a year.
From the best I can recall, I continued to do the shots into 8th or 9th grade. It was approximately 6 years. I eventually decided that it was time to stop the shots and start the hormone therapy. I believe I had reached 5 feet in height and decided it was time to start the hormone therapy and begin puberty. I felt I had grown tall enough and I was sick of the shots. I was told that when I started the hormone treatment I would no longer be able to the shots and would likely not grow any taller. The x-rays of my wrists were to determine the "age" of the growth plates there. Once these fuse, there is no room for growth and the shots would no longer be productive. The hormones would cause these plates to fuse faster.
HORMONE REPLACEMENT THERAPY
I started taking the hormones and rapidly began going through puberty. Breasts developed and I started menstruating. At first I remember being very happy and excited about this. It was getting quite noticeable that I was the last one in my class left to develop. I later began to resent the fact that I still had to go through the cycle once a month with all of the side effects. At first I was on very low doses of estrogen and progesterone. I had a pill that I would take every day, another I would take on days 15-21 of the month, and another I would take day 15 through the end of the month. This treatment worked well for several years. It was then decided that I should try the normal birth control bill. This worked find for quite a while. And then I would have pretty bad side effects: cramping, very heavy bleeding, and severe breast tenderness most days of the month. I tried several of the different pills out there and most recently tried a patch. I recently stopped that as well due to the same side effects and the additional side effect of dry itchy skin where the patch was. I would often skip months because well, who wants to get their period if they can skip it by not taking a pill? My doctor said this was fine as long as the uterine lining was shed every so often.
HOW IT HAS AFFECTED MY LIFE
I don't believe having Turner Syndrome has dramatically impacted my life, but it certainly has been impacted. The ways it has been impacted are:
- Low Self-Esteem/Depression. I suffered for a long time with self-esteem issues. I was always shy and introverted. I never thought very highly of myself. I felt different and somehow inadequate. My mom said I was very social and outgoing as a toddler and very young girl.
- Infertility. This was has not impacted me much until recently. I never thought seriously about having a child until recently. I have been in a committed relationship now for nearly 2 and a half years. I could see myself having children with him and I would very much like to.
- Low Bone Density. I was recently diagnosed with osteopenia, which is a fancy word for low bone density. It is similar to the osteoporosis that a lot of women suffer from after menopause.
Shopping. Going shopping for
clothes can be a frustrating experience for me. I have to be careful where I shop or have things tailored so
they fit me correctly. Since I am
5'1.5" inches tall I am usually ok with the ankle length pants or any tops
in the petite section. The problem
I have found is that it seems all of the jeans or other pants I want to
try on as I am browsing in the store do not come in petite or short
length. It seems that the petite
section, if there is one, always has a much smaller selection.
CURRENTLYEarlier this year I started seeing a reproductive endocrinologist. I wanted someone that I could talk to about my different options for having children. I wanted someone familiar with Turner Syndrome to follow-up on the hormone replacement as well as the bone density. In the very first visit she told me that it would be a "high risk" pregnancy if I were to get pregnant through a method such as IVF. I am not sure I totally agree because I know my heart is in good shop and I am fairly certain my kidneys are functioning properly. I guess more tests would need to be done to know for sure. It appears as though the hormone therapy is not helping with the bone density as it should. As a result, I may soon be referred to a bone specialist to determine the correct course of action. There seems to be some debate over the best treatment for someone my age with such low bone density.
- One piece of advice I would give to parents of a daughter with Turner Syndrome is, make her life as normal as possible. Do not give her any special treatment. Do not baby her, as tempting as it may be. She is perfectly capable of doing things on her own.
- I would also recommend being open and honest about the disorder with her. Do not shield her, and answer all of her questions as best you can.
The main purpose of writing this article was for support for girls/women with Turner Syndrome and their parents. Had the Internet existed when I was diagnosed, I am fairly certain one of the first things my parents would have done was research on the Internet to see what they could find. I would be very happy to correspond with anyone affected by this syndrome and answer any questions anyone may have. I know that when I was younger I very much would have enjoyed corresponding with someone else who could relate to some of the things I was going through. It may have helped to realize I really wasn't all that different, that I wasn't the only one with the syndrome, and to see that I could lead a perfectly normal and happy life. I can be reached through email at: erin at thirtysomethingblog dot com.
I would like to expand this page to include other women's personal experience with TS. If you would like to share your story, please email me at: turnersyndrome at thirtysomethingblog dot com.
Last updated on December 21, 2008
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