Tuesday, July 29, 2008

The 27th Annual NFED National Family Conference

Was a huge success!  At least, in my humble opinion. 

Ten people from my family attended (My hubby, Brian; my son, Zane; my Mom, Fredia; my sister, Denyse; my sister's boyfriend, Dad; my nephew, Dyllan; my niece, Danielle; my niece, Delores; and myself)! 

We participated in Grand Rounds at the University of Iowa Department of Dermatology.  We relished the experience, because it enabled us to educate a lot of new doctors about the Ectodermal Dysplasias. 

We participated in several workshops.  One that I attended was on Hair, Skin, and Nails.  Brian attended an Insurance one.  And our all time favorite, the syndrome specific workshop was on Hay Wells syndrome.  Wow!  It isn't often that I get to sit in a room full of people affected by the same disorder (because it is so rare).  The opportunity to trade stories and tips/tricks was a real blessing.

We also got to meet with some of the doctors that were in Houston in 2006 when we participated in some genetic research.  We were really excited about that meeting.  As it turns out, our family is affected by a new mutation of the Hay Wells syndrome.  And, my Mom tested negative for being a somatic mosaic.  The theory now is that it probably came from my Dad's side.  Now there is a genetics expert in the Netherlands, who can do a VERY INVOLVED mathematical analysis, called linkage analysis, to determine how likely it is that it came from Dad's side.  Depending on the results of that, Mom may need to do some more DNA testing.  I pray that the geneticist decides to do the linkage analysis for us!

One of the highlights of our week was getting to see an old friend.  We (my sister and I) met Marissa when she was about 6 or 7 years old.  Marissa is also affected by Ectodermal Dysplasia.  When her dad and mom, Chad and Dana, saw a picture of me in the EDucator (the NFED newsletter) they were astounded by how much Marissa looked like me.  So, they contacted us and asked us to meet them.   Long story short, we met them and ended up becoming friends.  Marissa is now a beautiful, and intelligent, young woman.  We got to spend time with Marissa, Chad, and Dana at the conference.  It was so refreshing!

I participated in a "spit test."  Sounds like fun, huh?  First, they tested the ph of my saliva with a little ph strip.  Then I had to fill a little cup with saliva (for DNA testing).  Then they blotted the saliva from between my lip and gum and timed it to see how long it took for the area to become moist again.  Then I had to spit every thirty seconds for five minutes into another cup, while chewing some rather nasty tasteless gum.  The result?  I have a very low saliva production.  Which I already knew.  But, the test is important for statistical analysis, so it was worth it.  Who knew it could take up to 30 minutes to fill a little bitty cup with saliva! 

Zane a great time, too.  He got to attend Kids Camp.  They played with him, and even made him a T-shirt.  My Mom attended Kids Camp with him, because he has a little bit of stranger anxiety (almost 8 months old, whew!!).  The truth is, I've never left him with anyone other than my Mom and Belinda (a friend from church), and I wasn't about to leave him with strangers in Iowa!!  So, thanks Mom!  I love you for understanding and being willing to put up with my antics!

All in all, it was a fantastic experience.  A hearty thanks to all the ladies at the NFED that made it possible!

February is National Ectodermal Dysplasias Awareness month.  I am planning to put together a charity kit, with the proceeds to benefit the NFED.  I will be opening it up for other designers to contribute, if interested, more details to follow.

Be blessed,

Lady V

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