Wednesday, January 28, 2009

Turner Syndrome......

This is a sort of difficult post for me today, not exactly sure why, but here goes. We have decided to bring you all up to date since y'all are a part of our support system. Most of you do not know but Mikiah was diagnosed with Turner Syndrome about 4 days after birth. We had a few indicators at birth to have the genetic testing done, one being edema (swelling) in the hands & feet and her slightly wide spaced nipples. Turner syndrome (TS) is a chromosomal condition that describes girls and women with common features that are caused by complete or partial absence of the second sex chromosome. TS occurs in approximately 1 of 2,000 female's born and in as many as 10% of all miscarriages. For more in depth info here are the basics.

Mikiah has a few of the physical characteristics but for the most part her case is fairly mild (if you could call it that). She is missing her second sex chromosome on all of her genes which could lead to her being of smaller stature, average girl with TS is 4'7'', and she will have premature ovarian failure/infertility. Estrogen replacement therapy is necessary for breast development, feminine body contours, menstruation and proper bone development & Fertility without assisted reproduction therapy is rare (less than 1%). So MJ will most likely not be able to bare children with out medical intervention. We will also need to continue to keep a close eye on her Heart, Thyroid, Kidneys and will be testing for diabetes.

The reason I am catching you all up on this today is we just had her first Endocrinologist appointment. We drove to Texas Children's Hospital in Houston and learned a bit more about the next course of action. We had a good appointment with our new Endo Doctor. We will be going to see her every six months for the time being. The main thing we are watching for is her growth pattern, she is currently in the 33% for height, so she is still plotting on the normal growth chart. Once she begins to fall off that growth chart we will begin discussing growth hormone therapy with our Endo doctor. Most TS girls start growth hormone therapy around age 4 (we would like to avoid it if we can but also want the best for MJ and if it's a few more inches then we will choose to do it). Before we head back in August we will be running a few baseline labs for Diabetes including glucose levels and Insulin testing. She will also be doing a few more labs and blood work. We will be going over the results of these labs in August. So more to come later.

MJ was great today and enjoyed her appointment, although I think she was a little nervous as Texas Children's is HUGE, but super colorful and fun! She's a trooper!!

19 comments:

Paula G said...

Thanks Kaelee for sharing your news about Mikiah. I know this was hard for you, but your family is always there to help you. Keep up the great work. You are a wonderful mom and Shawn is a great father. Love you Mom

Molly said...

I'm so sorry that you had to go through that today, it is never easy thinking of the struggles that our children may have to live through in life. MJ is such a beautiful girl inside and out and with a support system like you have, she will never be alone and will hopefully feel all of the love that she will need.

Glad it went okay and sounds like you guys are on the ball. Hope you guys get to rest up tomorrow after your big trip.

Erin said...

she is a trooper!! :)

Anonymous said...

Sorry it has been so hard Pooh. We all love & support you and your family!

Nanna

Aimee said...

she is so lucky to have such wonderful parents! what a little rock star she is...I miss you gusy! thanks for the update, Kaelee, and I know you guys will do everything you can to give her what she needs. give all the girls a big squeeze for me, ok? I love you

Brittany said...

Wow, Kaelee...thanks for sharing this. What a wonderful mom she is blessed to have. It is good to know how to be praying for you. PLEASE let us know if we can support you in any way.
Love,Brittany

Kary said...

Hi Kaelee, thanks for sharing this. I'm firm believer in sharing information as you never know who may have information / support that can help your family. Mikiah is a beautiful girl and your family is amazing. Keep that in mind! Hugs!

Crystal said...

Hi there I am Crystal, I found your blog because I am subscribed to any blog through google reader that has Turner Syndrome listed on it anywhere. Anyway my daughter Alana is 6 (7 in march) and has turner syndrome and autism and I just wanted to introduce myself :-).

Crystal said...

Oh and we were on GH for about 2 years from 18months to 3 1/2, we then stopped because we didnt see any improvement worth it and with her autism giving her shots is no easy task even at that young age.. now there is no way I could. I would need 5 nurses helping.. I am okay with her not getting it. I am 5foot, my mom is 4foot8 so being short in our family is nothing new. Plus my middle daughter that is typical just turned 5 and she has always been smaller then alana at the same ages.. go figure right? Seriously my typical 5 yr old is 30lbs tops and wears a 3T, 4T she can wear but they are huge and only VERY! Slim 4t jeans.

Sherry said...

I have a 19yo daughter with TS. She has done so well. She's a full time student at our local community college and a semi-professional freestyle snowboarder.

She has some differences in her style of learning and has REAL trouble processing math. An interactive MRI showed that she processes math in the verbal part of her brain. She is a very very good writer and speaker. (talk talk talk talk) Having the mri results did wonders with the school boards willingness to work with her.

The mri indicated that she perceives facial expressions poorly too. She tends to see a neutral expression as vaguely hostile. I think that's why she love little kids so much -- you always know exactly where you stand.

All in all she is an absolute delight and has caused me far less agony than my son who has 46 chromosomes.

My biggest worry now is whether she will be able to get health insurance when ours will no longer cover her. I know some young TS women end up in states which offer the best health care. I actually hope she'll end up with a man who is from a country with good health care -- like Finland or New Zealand. Anyone who knows me knows how close the two of us are and that for me to wish her away is out of character. But what we ultimately want for our children is what is best for them and not for ourselves.

Hope to see you at a TS conference some day. My name is Sherry and my daughter is Kyla. Welcome to this world of increased awareness.

Ysemin said...

Hello,

Do you live in or around San Antonio? I ask because my dad want's to start a local chapter here, so if you live around here, you might be interested in joining! Also, I hope I'll see you in the 22nd annual TSS-US conference this year!

Yasemin said...

I'm sorry, I seemed to have misspelled my name!

Kaelee said...

Thanks everyone. Your words and stories mean so much. Yes, I do live in San Antonio. I missed the annual meeting in Portland this year, but look forward to meeting many of you next year at the annual meeting. Thanks again.

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