....Another Amazing TS Story!

Recently, I've spoken with another mom about her daughter with TS. They have an amazing story!










Here's what mom has to say:


Hi Guys! My name is Penny and I am writing this blog from a mums point of view with a Turner Syndrome daughter. Mackenzie is a very lively 2 year old. She was diagnosed with Turner Syndrome at 5 months old after constant trips to the doctors and hospital with worries about her (When she was born she had really puffy hands and feet and they told me it was due to her drip). When we went to the hospital for results they took us into a room on our own and I knew straightaway there was a problem. The doctor sat us down and started explaing to us about syndromes, and then told us Mackenzie had Turner Syndrome. I asked what this would mean? And she told me that Mackenzie had a full x chromosome missing (girls have 2). She told me that Mackenzie could develop a few problems later on in life, take it day by day. She said the feet was a sign, high arch pallette (Mackenzie wasn’t feeding). Doesn’t sleep either. Then came the biggest shock of all: INFERTILITY. I just burst into tears. I was shaking and so shocked! I thought how the heck has this happened? I asked the doctor and they said the chromosome had just got lost at conception. I asked the doctor what would happen now and she said we would need to see a specialist in Turner Syndrome. As I was leaving the hospital she advised me not to look it up in the internet.
I went home and I did look it up on google straightaway. I needed to know what this was. I saw on google they had a lot of very bad cases of it which did scare me a bit . I saw a lot of the characteristics also fitted in with Mackenzie too. I then saw that the only chance they could get pregnant was through egg donotion (IVF.) At this point, I then decided the desicion was made for me to hopefully be given the chance to donate eggs for Mackenzie should she wish to use them in the future? She doesn’t have to. I just want to give her that option. I am waiting on an appointment with the IVF doctors to hopefully set the wheels in motion. I know some people don’t agree with what I am doing but I would just like to ask if you were given this scenario would you do it? I know I would do anything to help my children if they wanted it. One thing I have realized with Turners syndrome is not enough people are aware so I am also raising awareness of it. This is something that affects 1 in 2500 girls and most people don’t find out till there teens or even later. We are so lucky Mackenzie was diaognosed now. Mackenzie has started growth hormone treatment to help her grow (it is doing a fantastic job). She is also part deaf too, she has hearing aids and communicates through sign. We take each day as it comes and deal with every new thing that arises. I will keep you informed of the ivf appointment and let people know how it goes. I thank you for reading my story.




If you want more info, check out this facebook group by visting the link I have posted on my page, titled More Doctors Should Be Aware of Turner's Synd.

A Cracking of the Heart

I came across this book a few days ago. I know some of you may have already heard about it, but for those who haven't, it seems like a great book! I plan on reading it soon.




You can find it on amazon.com if you'd like to order. There are also many interviews with the author online.

So....how will you spread TS awareness?

Since it is TS awareness month, I came up with this idea. As the month goes on, why don't you guys send me pictures of yourselves and what you're doing to spread awareness? Once the pictures start coming, I can post them right here on the blog! Just be sure to send me names and a descripton if you're going to participate.

....TS Awareness is finally here!

Ok...the month for TS Awareness is finally here. I hope everyone enjoys it. Do the best you can to spread the word about TS!

February - TS Awareness Month!

Some of you may have already heard, but the TS Society is sponsoring the first TS awareness month this coming February 2011.

I think this is awesome, and it's a great way to spread the word about TS! If you want to find out more, visit the society's website at www.turnersyndrome.org!

...getting excited!

Hey everyone!

How are you all? I felt the need to check in this morning! I've got some updates. First of all, I have my next endo appointment coming up on the 27th. At the last one, she told me that I may be coming off the gh shots very soon! I'm soooo excited about that! My height is a little over 5'2. We're hoping I can get to at least 5'3. She's also going to up the dose on my estrogen patch. I'll let you know what happens at this next visit! =)

Keep checking my blog for some new posts to come soon!


*C

Cassidy, Kate, and Avery

Hi everyone!

I' ve been chatting with some TS moms recently, and have decided to introduce you to their wonderful TS angels!


Cassidy




(Cassidy is standing on the left, in the pink.)

Cassidy has been a friend of mine for a very long time! She's only a year older than me. My mother introduced me to her online. We have talked ever since. Years ago, we would send videos back and forth to each other giving updates on how we were doing.

She is a very bright, funny girl. I'm lucky to know her! She's been through a lot, just like I have, and it's nice to know there's a girl close to my age living with TS.


Kate







I've known Kate for while now, too. We share the same endocrinologist. Kate is a cute girl, and she's full of energy! The following is from a conversation I had with her mother.



Kate has always been small; I remember when I was pregnant with her. I was never that misrable, I could lie on my tummy and move, and with my son I could not. My afp test came back a little funny so I went for a level 2 ultrasound, they checked out everything and said it was fine. When I went into labor I remember the panicked look on the nurse's face when she lifted my shirt and said, " Oh no, how early are you!!" my reply was 7 days............

Once she was born via c section she cried, and cried, and cried. She had such bad reflux and could never eat more then 3 ounces, it made for a long year!!! Once she turned one it got better, but everywhere!!!!!!!!!!!!!!!! I got "She is how old? She is so tiny,". I wondered does she look that different and I just do not see it? I asked the doc, he was not concerned ever because she always grew just at her own rate, my mom is 4"11, and she went up slightly at every check up.

I spent many many hours studing Kate wondering, every one assured me she was fine, and didn't look different, just small but I always felt something was not right, but kept getting brushed off.

Anyways some stuff went on at our regular doc I was not happy with and I changed doc when Kate was 4. As soon as this doc saw her she mentioned her being small, I said I knew, the other doc had run some tests and it all came back fine, she asked if she could run her own tests, but she was sure she was fine, but still wanted to run them. I agreed. When I sat waiting for Kate's turn for her blood draw and I glanced at the paper and saw all the tests she was running I knew we were not coming out of this just being small for her age.

A few months went by, I thought we were in the clear and my worries were just normal mom things. Then the doc called and wanted to see Keith and I and not to bring Kate, by the time I got to the doc the things that went through my head were unthinkable of what I was dreaming was wrong.

We got the diagnosis. It was not easy and I was a mess for months. I went to all the doctors to check on all the things that could be wrong, the one thing that really, really caught me off guard was her hearing tests came back bad and she needed hearing aids, which I never saw any hearing loss. Her speech and vocab were perfect, she never wanted the tv loud etc. I never have put aids on her and she is now almost 8 and she is excelling in school, she sits in the front of the room but thats about it, I do believe sometime she will have to be wearing hearing aids with out a doubt, its just is it this year or in 5 more. Her heart so far is ok, and everything else. She takes GH never ever has she given me a problem about the shots. We told her she has something called TS, and her body does not produce all the "ingredients" it needs to grow and the shot puts the ingredients in. She accepted that fine. She knows her hearing is off also. She hates being short, it is getting better but she became so sensitive to it, before we even knew she had TS, everyone negative and making faces when I told them her age, I think she really took that in. It's getting better! She is the shortest in class, still in 2nd grade, but she is catching up a bit. She will be short ,I tell her ,and it's not a bad or good thing. It's just who she is.

Kate is one of the most stubborn, strong minded, brave kids I know. She leaves me speechless at times. She knows what she wants and who she wants to be, she will argue with me for hours if I let it go on, about an outfit, or her hair, I try to pick my battles. The other thing about Kate is her kindness, she is sooooo loving. Always full of hugs, she has the cutest nick names for everyone and they are all terms of endearment. She is so happy, yet she has so much to learn still, I just hope she can remain as happy as she is now. She has had some hard days, but way more good ones.

When Kate was diagnosed with TS I made the decision that it would not become an excuse for her to not have as much expected from her, if something was harder it was harder, but TS was not a weakness, its her genetic makeup and everyones genetic makeup is different and we all struggle with different things. It has worked well. I do find myself wondering if things are TS related and almost wanting to just let certain behaviors go, I do feel sad Kate has more to worry about, but I can not let her know this. I will always worry, it's not something I ever thought I'd have to deal with in my life with my only daughter, I just hope and plan to help her become the woman she is meant to be and most of all I want her to be happy. I know she wants children right now anyways, lol. I tell her some babies come on airplanes, some grow in a moms tummy.
She says one will grow in her tummy, which with medical stuff is possible some day. I still have some hard days, I always probably will. She is my daughter and I want everything for her, for both my children. As much as I worry at times, deep down I know it's going to be ok, just as I knew something was wrong when she was an infant. We take it day by day here and life is very, very normal with her. She is just like her peers in every way except she is more loving and outgoing then some and a bit shorter. She has no special iep at school. I decided not to tell them about her having ts. I just hate to make decisions for her that will effect her entire 12 years of school and growing up. Don't get me wrong if she was or does struggle and need anything extra I will have no problem telling them she has TS. I just wanted to see how it went. Again she is in second grade and doing great socially, and academically, she dances, and sings, and loves girl scouts, Barbie, clothes, shoes too. She is such a girly girl, and she is mine:)


Avery






Recently, I met Avery. I've had the chance to read many blog posts/articles about her. From what I see, she's one smart,adorable gal. I can tell she'll grow up to do some amazing things in this world!


I hope these moms and TS daughters have shown you that anything is possible. We TS girls don't have much to worry about!