Sunday, January 20, 2013

Turner Syndrome ONLY comes in Pink

I've been away from this blog thing for awhile and WHOA have some things happened since the last post.  We've now been introduced to Turner Syndrome, which I previously just vaguely remember from genetics class.  T had appendicitis in Sept. 2012.  If it wasn't enough for our oldest daughter to have emergency surgery, the surgeon came into recovery, threw some pictures down and said, "I saw something during surgery."  Given my history, the first thing I thought was that he found cancer.  Thankfully, that's NOT what he found.  That's not to say we were prepared in any way for what he did find...or for his complete lack of understanding how his horrible delivery impacted us.  The next thing he said was that what he found is "indicative of some syndromes" and that we should see a geneticist and endocrinologist right away.  No specific syndromes mind you, just "some syndromes".  Thankfully for us, the nurses were empathetic and closed curtains, brought tissues, etc. while we literally were unable to breathe. 
When we got back upstairs to the Peds. floor, the Drs. up there were much better equipped with empathy, language, and information.  The one thing we kept hearing was the likelihood that in addition to Asperger's, Turner Syndrome was something we needed to familiarize ourselves with.  They offered to do the blood draw an send off the karyotype for us so it would save us a trip to one more specialist. 
After over a month of waiting and worrying, we finally got the results.  T does in fact have Turner Syndrome.  Only women can have Turner Syndrome.  It occurs in roughly 1 in 2500 births, only an estimated 1% of fetuses make it to term, and 10% of miscarriages are caused by Turner Syndrome.  We never would've known she has TS until things started to or were lacking in her health and physical development. 
So jumping forward, T now has an endocrinologist who will monitor her every 3 mos. for the rest of her life.  She has been on growth hormone injections for 2 mos. now and will be on those until she's considered done growing....min. 7 yrs.  She also has a cardiologist.  Thankfully she doesn't have the 2 major congenital issues often associated with TS, but she's still at great risk for various other things impacting her heart including aortic dissection.  No nephrologist for now as her renal u/s at this point shows no abnormalities.  There seem to be countless implications for her health that are lifelong and pretty heavy duty. 
We all ready knew T was an incredibly special little lady, we just really had no idea how many statistics she beat to bless our lives as one of our daughters.  I could type an endless list of info. about TS or I can make this easy for us both and share a couple links if you'd like to peruse at your leisure and educate yourself.
www.turnersyndrome.org
http://www.turnersyndromefoundation.org/

1 comment:

  1. Loved reading this - T is a pretty amazing girl who is part of a pretty amazing family.

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