She has what?

Welcome! I started this blog for several reasons. 
1. A lot of people ask me questions and it is easier to direct them here to see how we are doing. 2. I like to talk a lot and this helps my brain to slow down :p 
3. My baby girl, Emily, who is just 3 years old was diagnosed with an incredibly rare disease just 3 months shy of her 3rd birthday.
    
 None of the information out there is very nice to newly diagnosed parents. I mean, had I depended on the likes of Wikipedia, I would be a basket case, tucked in a fetal position in the back of my closet, talking softly to myself. Their information is excellent, but if there is one thing I learned, Sanfilippo isn't an immediate death sentence!! Sure, they have some distinct disabilities but they also have some extraordinary gifts. That is what made it soo hard to understand that MY baby girl could have this. She is smiley, goofy, sweet, cuddly and full of herself. She loves to dance!! She's not terribly shy, yet she is quirky. Some things, odd things make her scared to death. She can pitch a full blown 10 temper tantrum in seconds, and she thrives for a routine. Yes, she does tend to get sick easier; we have gone through 2 sets of tubes, she has had her adenoids out two times now, tonsils are gone and she had a turbinate reduction. Because her little smooshy face, along with chronically inflamed tissue in her nose made it so hard for her to breathe. 
     So now, what exactly is MPS IIIA, Sanfilippo Syndrome, Mucopolysaflufflablofff (mucopolysacchardosis)? 
     Well, in a nutshell some of her garbage men went on strike. Permanently. You see rather than bore you long scientific names and insanely long drawn out details, I will put it this way. 
  
 Every body has a billion trillion million cells. Inside these cells are "garbage cans". Now your cells need "food" in the form of these long sugar molecules. Once your body has used what it needed, it discards it, tossing it away and never looks back. 
   So there sits Emily's garbage, sitting on the curb, waiting for some Enzyme to come pick it up. Sure it (garbage man, aka enzyme) meanders by, and grabs a bag or two, but he's lazy. There's not enough of him to do the job. 
   Well, them there little cells ain't gonna stop eatin, and they sure as heck are not all into recycling, so the spent molecule trash just keeps building up. Soon the whole dagnabbit street is lined up from here to kingdom come with trash. 
   This is our problem. When the enzymes fail to pick up the wasted molecules it has to go somewhere. In SF kids it ends up in the joints and in the brain. It tends to get into soft tissues as well. The result is that as Emily gets older, that stuff gets everywhere and the end result is not good. Most kids not to make it to 16. 


You wanna know the kicker? There is no cure. Not even a tiny one. No medicine can make it better, and there's just no way to ignore it.. 

It is just amazing how ONE little part of ONE machine in ONE cell can render a body incompatible with life. Amazing.