Wednesday, July 27, 2011

Wigging Out!

Trying on Mom's New Hats!
Today was such an adventurous day full of so much information!!  Because, today was the day that I finally got to meet with the geneticist!  I am absolutely fascinated by genetics!  (I'll stop using exclamation points any time now!)

I took my Mom with me to the genetics appointment since if there is something wrong with me, it is surely her fault.  The doctor (who was just so nice) came in and first took a full family tree history.  My Mom's side is easy, she's an only child!  My father's side is messier, he was one of six children and I have many cousins.  The interesting thing about my father's side is that Parkinson's was so prevalent.  My father died from a stroke due to Parkinson's and his mother and several siblings had it.  I show no signs of Parkinson's and it's not something I'm really concerned about at this point.  I'm too busy trying to figure out what variety of cancer I'm going to get next...  Which is weird, because I always thought the Parkinson's was going to get me.  However, at 41, I would be showing signs of it by now, and I'm not.  I don't want to say I'm "safe" because I don't like to tempt fate...

On my father's side is also a disease called Ehlers Danlos.  My family has a "milder" form of Ehlers Danlos which includes double-jointedness and weak joints.  I likely have this and it's something I've known for a long time.  I have very loose joints and I'm very double jointed.  Other than that, it's not something that really is a problem for me.  I have a very mild variety of it.  I had a cousin that had it quite severely and broke bones constantly.  I'm lucky that, for me, it's just a mild nuisance and a few aches and pains here and there.  Well, that and I'm not going to be a professional athlete any time soon (darn).

That's a lot of "junk" on my Dad's side.  But, little did I know, my problem is something I didn't even know about and never imagined.

After taking the family history, the geneticist zeroed in on a rare syndrome called "Cowden's Syndrome."  This syndrome causes (are you sitting down):

Breast Cancer
Renal Cancer
Thyroid Cancer and tumors
Fibroid Tumors
Uterine Cancer

There are a few other things the syndrome causes that I don't have but those are the most serious and I have ALL except the Uterine Cancer.  Great.  I've always said I'm an over-achiever.

Oh ,and one of the main symptoms of Cowdens?!  MOOO-ing!  Okay, I'm kidding - not really.  But, it is a BIG HEAD!  See!  I told you I have an abnormally large head!  Hats don't fit me!  Finally, I have a reason for my big noggin!  Well, besides the fact that geniuses normally have larger heads.  Nah, I made that up too. Ha!

One of the markers of CS is little bumps on the body and especially the face.  I do not have those.  But I do have this calcium spot on my eyelids which the geneticist feels are related to the disease.  And who else has that same thing on their eyelid?


Wig #1
See, it really IS always your Mother's fault.  My mother not only has the eyelid thing but also the fibroid tumors.  My grandmother had the fibroid tumors as well.  However, neither my mother nor grandmother had any cancers.  So, it's possible I'm still just a first generation mutant, however, signs are pointing to my mother as well.

It was fascinating!!  The geneticist got really excited when she figured it out.  What's even more interesting is that my Mother and I had both found it online and read about it but had disregarded it a bit...  What does the internet know?!  My Mother actually found it first!  I guess the internet IS good for something.  My Mom and I have some other "skin" similarities that are interesting and, I wonder, related?

So, I'll have a blood test next week which will be sent off and evaluated.  90% of people with CS are identified through genetic testing.  10% are not.  That 10% can't be found just because they don't quite know what the mutation is.  The geneticist feels really confident that this is what I have and if I get a negative - it's a false negative.


Looks Better on Him!
Even though, there are some unanswered questions and more to find out - I feel so happy and so relieved to have an answer!  There will be a lot of screenings in my future and we make sure that I don't get the other cancers associated with CS (Colon Cancer is a bit of a concern as well).  But, I'm so thankful to have an answer.  So thankful to know what to look for!

We spent 2 hours at the geneticist and then went to lunch before heading to the Cancer Center.  I was going to get some hats today and maybe try on some wigs.  I was apprehensive about going and I wanted to say that I was too tired but I knew my Mom would be one of the best people to go with me.  One of the most fun!  I forced myself to go.  I'm glad I did.  I thought I might lose it once I got there but I was okay.

Upon arriving, I saw a familiar face.  One of the ladies that had helped in the Mastectomy class was there to help and talk to.  I looked at and tried on several hats and found about 6 that I like!  Some of the hats even fit my huge gigantor head!  Success!  I really think I'm going to be a hat person - scarves underneath maybe.  It's what I feel most comfortable with.

Hot in the City Tonight!
After perusing the hats and choosing some (ALL FREE!), I talked myself into trying on some wigs - maybe I would like them!  Maybe it would be ME!

I do not like them.  I look totally ridiculous as the pictures show.  Really.  It's bad.  It upped my "dork quotient" by A LOT.  It made me question whether I even look good with the hair I've got!  It was fun though and we had a good laugh.

I met a lady there that IS a wig person.  The first wig she tried on looked so amazing on her that we all talked her into it and she was so happy with it.  This woman is going through radiation treatments for Stage IV breast cancer that has moved to her brain.  I thought she was the nicest lady!  We all had some good laughs!

Which made me wonder....why are the people with the most to deal with, the most upbeat?  I see/hear people complain daily about what is wrong in their life and once you have cancer, so much of it seems so trivial.  I try to not judge, everyone has their cross to bear, don't they?  But...when your life is in jeopardy, when you aren't sure you are going to see your kids grow up, suddenly, so many things seem very very petty.

Anyway, I had a great day.  A great day finding cute hats, thinking about how I'll look, planning for losing my hair and getting answers.  I couldn't have asked for more...well, maybe to look good in a wig....


  1. You know....if you focus real hard (I mean REALLY HARD) you kinda look like Paris Hilton in that blonde wig!

    This post was pretty inspiring there Ms. Laura. You bring up a good point about the petty-ness in life when their life is in jeopardy....I think I'll take this as something I was supposed to see as a learning lesson to start that now before my life is (Please God Never) in jeopardy! You've given me clarity. Thank you. ~Viki~

  2. lol I didn't know Raquel Welch had a wig line! That cracked me up!

    I'm glad it was such a productive, good day! The pictures are hilarious...they put me in such a good mood (and I'm at work!).

    Keep on smilin'!