Resources for Turner Girls and Their Families...

Happy 2015! I know it's been a while since I posted, but I thought I would start the new year by telling you about a couple of resources and points of information for Turner's girls and their families.

If you have a Turner's girl in your life, sooner or later she will need to know just how Turner's will impact her. Speaking from personal experience, the sooner you give your little girl this information, the better. I can remember my mother sitting me down in the kitchen of our home and presenting me with the book "Good Things Come in Small Packages". I was between 6 and 8 years old, so the conversation between my mother and I ran something like this.


Mom: "You asked me before why you're so small, do you want me to tell you now?"

Me: "Sure".

Mom: " Well, to start you're missing part of a chromosome"

Me: *looking bewildered and concerned * "Will you help me find it?!"

Mom: *laughing* It's not something that can be found sweetie, here let's read this book together.

We read the book

Mom: " are you done looking at the pictures and everything?"

Me: "Yes"

Mom: "Do you have any questions?"

Me: "Nope"

Mom: "Do you understand what the book was talking about?"

Me: " Yes"

Mom: "You know you'll be short the rest of your life? And that you won't be able to have your own kids unless you adopt?"

Me: *looking very serious* "I know, but it's okay mommy, I have my dolls for now and when I get big I can just live next door to you after I get married!"


Now there are pros and cons to every approach with this kind of conversation. And, while I was too young to fully appreciate every implication of life with Turner's, I have always been glad that my parents told me about it at such a young age so that it was "normal". I knew what to expect in my future, and that early knowledge helped to equip me for most of the challenges I would face. Telling your special Turner's girl early is something I would definitely recommend.








Another resource is the Turner's Syndrome Society. They have local chapters that get together for support and conversation. I can remember going to one meeting where a 19 year old girl was bemoaning the fact that she would get pulled over by the police often because they didn't believe she was old enough to drive! I myself have had to use an extra seat cushion in certain cars. Anyway, the TSS also has national conferences that discuss various topics, provide you with the chance to meet other Turner's girls, and I think even offer some scholarships for college and technical education!


So, what are the best resources you have found in researching Turner's Syndrome? Or, if you are a Turner's girl, how did you parents explain Turner's to you?  As always, if you have any questions or topics of interest you wish me to address here on the blog, feel free to contact me or just leave a comment.

The Turner Learner

As I mentioned in my last blog, Turner's girls have some learning differences. To clear up any misconceptions here is your special edition of Turner's girl mythbusters!

Myth #1 Turner's girls have lower intelligence-- False. There is no correlation between Turner's Syndrome and  lower intelligence, in fact most Turner's girls are of average intelligence. We are very similar to the normal population with some being below average intelligence, most of average intelligence and some of above average intelligence. In the early studies of Turner's Syndrome doctors were under the impression that Turner's syndrome caused some mental retardation or cognitive impairment, not knowing that what they were observing were ancillary conditions not common among Turner's girls at all. The Turner's girls that I have met have all been of at least average intelligence and I myself love to crack Shakespeare puns and participate in intellectual/nerdy activities with the best of them.

Myth #2 Turner's girls have learning disabilities-- Again, False. This is no more true than of the average population. However, most Turner's girls do struggle with visual spatial tasks and often have a harder time with mathematics. For me this meant that I hated geometry class, and, while I did have to work harder in my math classes, even so I still did pretty well. The take away message here is that even if it is frustrating or hard for your Turner's girl, keep encouraging her and praise her for her efforts. Also, this difference in learning visual spatial tasks was a challenge for me when I was learning to drive. I cannot tell how far away a car is from me or how far away a light is when I am driving. I navigate this by learning these little tricks: 1. For in town driving if I can see the base of the tire of the car in front of me when it is lined up with the top of the steering wheel or decal on the hood of my car I am a good safe distance and don't want to be closer. 2. For highway driving if I can clearly read most of the license plate of the car in front of me I am too close. 3. Find a tree or house that is right by the light that is turning red and stop when you are aligned with it. These little tricks have greatly helped me be a safe driver and navigate my visual spatial problem. That being said however I do not like driving after dark because it is a lot harder for my methods to work in the dark.

That's it for this post. Next time I will be answering any questions you folks may have about Turner's Syndrome or any particular way that it has affected me. Feel free to send me your questions. Farewell until next time!

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!