Needles and Cat Scans and Doctors, Oh My!

When it comes to medical tests and treatments, Turner's girls are kind of expensive. From the day we are born we have to see a specialist for this, get a test done for that, but by the time we graduate high school the worst of that is out of the way (I know, great news for you parents, right?! :D )

As I stated in the last post I was diagnosed with a blood test and that was only the first of many. Because #Turner's affects every system of the body there are many things to take into account including the fact the 1/3 of all Turner's girls end up with an underactive thyroid (which regulates metabolism). I was diagnosed with this when I was 13 or 14 and have taken Synthroid or Levythyroxine ever since. The #hypothyroidism manifested itself by my feeling cold ALL the time, needing to take three naps a day because I was so tired, feeling like my legs would drop out from under me, some mood swings and feeling like I was in a fog. While I was diagnosed with hypothyroidism when I was 13 I had been experiencing these symptoms since I was 9 years old. I suffered with this without treatment for 4 or 5 years and my parents didn't know what was wrong; so my advice to the Turner's girls out there is speak up if someting doesn't feel right, and parents, believe your daughter when she tells you how she's feeling and teach her to speak up for herself when she goes to the doctor. The good news is that this was very treatable and I just have to take a little pill  and have blood work done every 6 months to check my levels for the rest of my life, which is not so bad.

Next, a lot of Turner's girls have some sort of kidney abnormality. I was diagnosed with a "horseshoe kidney" when I was 8 years old after they had done a CT scan, but when I was about 14 they did a sonogram and found that I did indeed have two kidneys, but one was very very small and non-functioning. Now, people can live well with only one functioning kidney, but my doctor still does blood work and tests to check my kidney function. Also, since some things like Vitamins D and C are processed through the kidney I have to have those levels checked as well since my poor lonely single kidney isn't abosrbing those as well -- meaning I have to take a supplement to get enough of those vitamins.

Also, Turner's girls don't naturally make enough estrogen on their own, so they don't go through puberty and are at a very high risk for osteoperosis if they don't take estrogen replacement therapy. I started on estrogen replacement therapy when I was about 15 (which begs the question, why would I make myself hormonal on purpose?!) and will need to take this pill for the rest of my life as well. Also related to this is the fact that most Turners girls are not able to have children since our ovaries aren't able to do what they are supposed to do.

One of the "biggest" identifiers of a Turner girl, is how short and adorable we are! To help with this (the shortness, not the adorableness) I started growth hormone injections when I was 9 years old and stopped when I was 10. The reason I stopped and could not start again until I was about 12 or 13 was because my dad's insurance at his new place of employment had some difficulty wanting to pay for my "pre-existing condition". This showed me early on just how important good insurance is for Turner's girls... I am 5 foot (If I wear thick socks), but I could honestly have been about 5'6 if I had had the growth hormone continuously. When I started the growth hormone it was still in the process of being approved by the FDA, which shows where they were at with treatment at that time! Now, they have options for growth hormone and I got to learn how to give myself shots every day (although I made my mom do them for me as much as possible until I stopped the shots when I was 14 or 15). One note on this, all of these things -- the hypothyroidism and the growth hormone -- were followed by a specialist, the endocrinologist.

Next, structurally Turner's girls ears are different. The tubes that lead from the outer ear to the ear drum is shortened. Most Turner's girls get ear tube placements when they are little if they get frequent ear infections, I was not one of those. That being the case I still get teased by my husband for being "poor deaf wife" for how loud I need the t.v. to be and that I have ear problems after flying from all the fluid that gets trapped around my ears.

Also, one of the more concerning aspects of Turners is the fact that several Turner's girls have heart abnormalities. The most common one of the coarctation of the aorta (a small tear in the heart) which needs to be surgically corrected. Thankfully I have not had to worry about this, but my doctor recommended that I see a cardiologist every two years just to keep on top of it. This is one of those areas where a healthy diet and moderate exercise can do wonders :)

To be clear, although we can be very sweet, sometimes Turner's girls go a little heavy on the sweetness and end up with type II diabetes. We are very prone to this, and again, thankfully I have not had to deal with this I still try to watch what I eat (mostly :) ) and exercise.

Now, you might be reading and thinking, "Oh my, can my daughter possibly live a normal life?!" and the answer is yes! Health-wise we need a little more maintenance, but so do many other conditions! It's easy to stay on top of any health related concerns and the treatments needed are generally easy to deal with. The knowledge that I "could" have some serious health concerns came with the fact that I never felt I knew what "normal health" was.  Eventually I learned that it's important to learn what normal is for me and not picture what may happen. This is something imporant that parents can do for their Turner's girl... teach them that yes, there are going to be some health struggles, but know how to speak up for yourself, and know how you feel when you are "normal" for you, not judging yourself by anybody else's standards.

Next week, I'll talk about Turner's girls and how they learn. If you have any special topics related to Turner's that you want me to talk about or have any specific questions for me let me know. Until next time!



 

In the Beginning...

Now, you might be wondering "what the heck is Turner's Syndrome?" Basically if you look at all the chromosomes and cells as the words of a book, Turner's girls have an inch cut off from each page of their "book". They are missing all (or in my case only part) of their last chromosome and so each part of the body including the endocrine system, ect. is missing some information. This is why we are so able to stay so short and adorable for so long!  We Turner's girls are also a rare breed (only 1 out of 2500 live female births), and 7-9 out of every 10 girls with Turner's Syndrome are miscarried. Also, since Turner's affects only females its a girls only club :) To give you a picture of Turner's as a baby here is the story of how I was diagnosed...

I was born in June of 1984 in Washington state. Although I was the third of four children my mother thought I was absolutely adorable and wished I would stay that little forever. Coincidence that I get diagnosed with Turner's Syndrome only 8 months later? I think not! For the first few months my parents had no idea that there was anything different about me, except for the fact that I had edema (swelling or puffiness) in my feet and hands (This went away before I was three years old). When my parents took me to the doctor he told my parents I had some odd rare disease and would need my feet cut off to save my life. Thankfully for me (and every dance partner I've ever had) they didn't listen to this doctor. I was taken to Children's Hospital in Seattle to Dr. Virginia Sybert. She took one look at me and said "I'll have to run tests, but she has Turner's Syndrome". Dr. Sybert said that she could tell because of my puffy feet and hands, the almond shape of my eyes and the fact that my ears are slightly pointed and tipped back like an elf's. They did the blood work and found that one leg of my last chromosome was missing and that my father had an extra partial leg of a chromosome. With the diagnosis of Turner's cam a lot of questions from my parents and a lot of medical tests and treatments.

Next, I'll tell you a little more about these medical tests and treatments that Turner's girls can expect.

Me when I was about two years old... You can see in this picture the special shoes made for me since the swelling had not gone yet from my feet and hands.

Chromosomes... for the science nerds :)

Welcome!

Welcome! Thank you for stopping by :) My goal in writing this blog is to provide information and support for Turner's girls and their loved ones. As a young woman who also happens to have Turner's Syndrome I know you have many questions.

• What is #Turner's #Syndrome?
•  Is Turner's contagious?
•  How will this affect the life of me or my child?
•  Can I live a normal life?
• Where can I find "tall people jokes" to balance all the short jokes I'll hear over my life?!

These are some of the questions I hope to answer in my posts. To give you a little background on who I am and why I'm even talking about this, here is a "little" bit of information. I'm 28 years old, I work as a social worker and I was diagnosed with Turner's Syndrome when I was 8 months old. I live with my wonderful husband Michael, currently finishing up his PhD in Chemistry, and our adorable Beagle dog Dagny. When I'm not at work I can be found with my nose in a book, going for walks, talking with friends or singing songs from Broadway musicals while dancing and cleaning the house.

I'm writing this blog since Turner's is a little known condition and I want to give hope, information and support to Turner's girls and their families since raising a girl with Turner's Syndrome can seem like an exciting and confusing roller coaster ride. As I write these blogs feel free to ask me any questions or offer comments on what you read (but let's keep it clean and be polite people). Hope you enjoy!