What is Sanfilippo Syndrome?

MPS III is a mucopolysaccharide disease and is also known respectively as Sanfilippo syndrome. All individuals with MPS III have deficiency of one of four enzymes,which results in the accumulation of glycosaminoglycans (GAG) inside special parts of the cell called lysosomes. This is why MPS III is part of a larger family of diseases called the lysosomal storage diseases (LSDs). The accumulation of GAG is responsible for numerous problems that affect individuals with MPS III. Sanfilippo is a fatal disorder which will cause gradual neurological and cognitive deterioration. There is currently no cure for Sanfilippo Syndrome.

To donate towards rearch for a cure please go to one or both of the following:

http://www.teamsanfilippo.org/

http://www.mpssociety.org/
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A Child

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Some can fly higher than others,
But each one flies the best it can.
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Each one is different.
Each one is special.
Each one is beautiful.

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Wednesday, December 22, 2010

Holidays

I haven't written in a while. I need to get better at this next year - it can be my resolution! Overall things are going fairly well. We have the boys on a good sleep schedule - both in their own rooms - so we are all sleeping better which helps us all be less crabby. We still have our ups and downs - as it will always be. Holidays are tough - happy and sad. We are still holding out hope for something to come through that can help the boys and all the other MPS kids. As for specifics, Ryan is doing GREAT in school. He has a great teacher and aide all to himself! They are so good with him and you can tell they really care about him alot. He is actually supposed to get a new boy in his room so he will have a "friend". I dont know any specifics about the new boy but he is supposed to start after the holidays. Ryan gets along with anyone so not too worried about it. Brayden is a typical 2 (almost 3) year old. Temper tantrums galore! But, he can also be the most cuddly sweetest boy. He is such a cuddler which is great b/c Ryan never was too in to that! The boys really interact now which is great including wrestling around. Brayden just loves his older brother and always wants to know where "Ry Ry" is :) Hope everyone has a happy holiday and a happy and HEALTHY new year!
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1 comment:

  1. Roy ZeighamiJanuary 19, 2011 at 1:51 PM

    Hi,
    My name is Roy Zeighami and my son (Reed, 3) has been diagnosed with MPS III. We are still trying to nail down the specific type. The had enough blood to run a test and exclude MPS IIIB.

    Anyway, we are so happy to see such a nice family that is in the same situation as us. There is no doubt that we will run into to other at some point.

    Anyway, I like your video posted on the Pepsi challenge and we have spread the word like crazy. I think we have tons of people that have committed to voting each day.

    Thanks,
    Roy

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