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/
"Enjoy the little things, for one day you may look back and realize they were the big things." -- Robert Brault


It's Not About Making it Through the Storm, It's Learning to DANCE IN THE RAIN



A Child

A child is like a butterfly in the wind
Some can fly higher than others,
But each one flies the best it can.
Why compare one against the other?
Each one is different.
Each one is special.
Each one is beautiful.

Author Unknown


All for one and one for all
My brother and my friend
What fun we have
The time we share
Brothers 'til the end.
~ Author Unknown

Monday, May 24, 2010

We have had a good couple of weeks with the boys. Ryan really seems to be behaving better - for the most part. He still has his moments of course but they seem to be fewer and less frequent. Ryan and Brayden have really been playing "together" alot more lately - it is great to see. Mostly they like to wrestle! Brayden holds his own with his 59 lb brother! The nice weather is always good for us because Ryan LOVES to be outside. We have had the moonbounce up the last two weekends which they love and which tires them out :)

We are getting anxious for the upcoming Beat MPS walk/run in Wilmington and really hope it is a success.
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Friday, May 7, 2010

Cardio appt went well for the most part. EKGs looked good. Ryan was really good...not sure what that was all about - ha! ha! Brayden on the other hand was not so good! He did not want any stranger touching him at all! Anyway - gonna wait another year to have the cardiogram since they will have to sedate them and we try to limit that as much as possible. Everytime Ryan has been sedated he comes out of it very agitated and they were very unpleasant experiences for us (and all the other people in the hospital listening to the yelling...).
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Thursday, May 6, 2010

Ups and Downs

Things have been crazy lately - lots of ups and downs. Ryan is no longer able to stay in private daycare. They are unable to care for him at this point. The daycare has been very good to us and it was a hard decision for them but I knew this day was coming. Ryan has been doing a lot of kicking, throwing and hair pulling and I am always waiting to hear that he really hurt someone. He doesn't mean to hurt anyone - he just doesn't know how to communicate. He simply doesn't understand. It breaks our hearts though b/c he has been with many of these same kids since he was 6 months old. He has two girls he talks about constantly and it is sad he wont see them anymore. Brayden will remain at the daycare. He is still behaving normally for a 2 year old. SO - now trying to figure out what to do. I am looking into different options for the summer.

We are finally taking the boys to see a cardiologist tomorrow for some baseline tests. The list of doctors we are supposed to follow with is very long and I hate dragging them constantly back and forth to the doctor. They really dont want to be there and believe me - they let everyone know!! So, my mom is coming for extra reinforcement!
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