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Saturday, October 23, 2010

Let's get serious for a moment - A little Girl Named Emily

Usually I use this space to kill some time,maybe spout off a little bit of my odd mix of politics, witticism and such, and have a good time gauging the reactions. Occasionally I write a little fiction, or pen some rather dark fiction under a nom de plume of Hilton Stiles. And of course, if you know me, you know I love to write my not really a review restaurant reviews.

I have not however tried to write any science fiction. At least not since I was a middle schooler and had a crush on an adorable girl who was mesmerized by Issac Assimov, but as the phrase goes, that is a whole another story.

If I did write some science fiction, I might write about this awesome weapon that some dark goverment ageny was going to try, one that would be unseen in the air or food, but once in a body it slowly turned the fluids of the body into crystals.

It would grow in the cornea of the eyes, so that if untreated they would cause pain, light sensitivity and blindnes.

Perhaps it would make a persons blood so acidic that they could claim to feel it moving within them.

It would cause renal failure, muscle deterioration, blindness, inability to swallow, diabetes, and thyroid and nervous system problems.

I could do that, exept one thing:

This is not science fiction - it is real - and it is called Cystinosis.

I'm no expert, so here is a good common definition, from Wikipedia :

Cystinosis is a rare genetic disorder that causes an accumulation of the amino acid cystine within cells, forming crystals that can build up and damage the cells. These crystals negatively affect many systems in the body, especially the kidneys and eyes.
The accumulation is caused by abnormal transport of cystine from lysosomes, resulting in a massive intra-lysosomal cystine accumulation in tissues. Via an as yet unknown mechanism, lysosomal cystine appears to amplify and alter apoptosis in such a way that cells die inappropriately, leading to loss of renal epithelial cells. This results in renal Fanconi syndrome, and similar loss in other tissues can account for the short stature, retinopathy, and other features of the disease.
Definitive diagnosis and treatment monitoring are most often performed through measurement of white blood cell cystine level using tandem mass spectrometry.

The scary / amazing / odd thing is that it affects only 1 in every 100,000 to 200,000 newborns - it is so rare that only approximately 2,000 people in the WORLD are known to be diagnosed.

And one of them is a bright, scrappy little girl named Emily.

Emily is the Daughter of some schoolmates of mine - and faces some awesome challenges. She has endured rigorous medicine schedules, late night emergency room trips, and is now enrolled in what is being touted as a revolutionary research treatment program. It requires her family to travel from central NC to Atlanta twice monthly. It prevents her family from having any semblance of a normal life, with steady work and school.

Having a sick kid, with a tummy ache or maybe a broken arm is hard enough on a parent - imagine having a child who is facing a lifelong battle.

These folks need your help, and mine. They are working every minute they can, and more importantly they are spending every minute they can loving and supporting Emily.

You can help.

There is a benefit planned for Emily, a plate sale and raffle on November 6, 2010 at the Buffalo Lakes clubhouse. All proceeds will go to Emily's family to offset travel expenses and lost wages.

So, please, if you are in the area, drop in and get some food. Buy a raffle ticket. And help a little girl fighting a disease that to most of us would only be found in a science fiction tale.

The HP would appreciate it - it's a mean world out there kids - we got to look out for one another.

Link for Facebook Page of Emily's Benefit.

1 comment:

  1. Please feel free, or even let me encourage you, to repost this so we can get the word out.

    ReplyDelete