Exploring Holland: Introduction to Sanfilippo

Thursday, January 13, 2011

Introduction to Sanfilippo

This is why we desperately need your vote.

3 ways to vote each & every day!!
1) Text 105582 to PEPSI (73774)
2) Go to www.refresheverything.com (register, search Team Sanfilippo and vote).
3) Vote via facebook by clicking this link and using the app. http://apps.facebook.com/pepsirefresh/idea/view/id/99442d3c-30f0-102e-be05-0019b9b9e205

5 comments:

Kelly said...: Shannon, can you put that video on youtube or is it already available there so that those of us who are reminding others to vote can embed the video itself in our facebook pages, etc?; January 13, 2011 at 10:40 PM
Shannon said...: Excellent idea, Kelly. I am in the process of doing this now.; January 13, 2011 at 10:44 PM
Erin said...: shannon, this is Erin (wavey's 1:1) can you post the youtube link for where you posted the video? i want to post it on my facebook, but i can't seem to find it.; January 14, 2011 at 7:22 AM
hellomorleen said...: What a beautiful, touching video of your precious babies. I placed my vote this morning. God bless your family.; January 14, 2011 at 7:26 AM
Heather said...: Still voting 3x a day! Prayers for you and the kids...; January 23, 2011 at 10:17 AM

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What is MPS IIIA / Sanfilippo Syndrome

Sanfilippo Syndrome is a recessive autosomal genetic disease. Children with Sanfilippo Syndrome are missing an essential enzyme needed to breakdown and dispose of long sugar chains in the body called mucopolysaccharides. also known as GAGs. Because these sugar chains cannot be broken down and disposed of they accumulate in the cells causing progressive damage. Babies and young children with Sanfilippo Syndrome appear normal, but symptoms begin to appear with age as more and GAGs build up in the cells of the body. There are 3 stages to the disease. Stage 1 the child begins to lag behind peers and begins to display difficult behaviors. Stage 2 the child losing his/her language, becomes hyperactive, chews on everything, and has sleeping difficulties. Stage 3 the child slows down, becomes dependant for all mobility and loses the ability to chew/swallow. There is no treatment or cure for Sanfilippo. Life expectancy varies.

Inspiration of Blog Title

WELCOME TO HOLLAND by Emily Perl Kingsley

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this...

When you're going to have a baby, it's like planning a fabulous vacation trip -to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The flight attendant comes in and says, "Welcome to Holland". "Holland?!?" you say. "What do you mean Holland? I signed up for Italy. I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay. The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease.

It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people who would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around....and you being to notice that Holland has windmills...and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy...and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And for some time, the pain of that will never go away...because the loss of that dream is a significant loss.

But, if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things...about Holland.