Things to do with Emily on a rainy day...

   I think this is a problem most mothers of toddlers face. What to do with a toddler that has a LOT of energy when you can't go outside because its raining and miserable? For the parent of a Sanfilippo child, figuring  this one out will have you spinning in circles (well your head anyway). So I've come up with a list of things that you can do with your child.  Let us begin!

1. Pick up! This game has been a child hood favorite for ages it seems. Only now, you, the parent get to play too!! Our kids are all too willing to volunteer our time picking up the following items: Pots and pans out of the cupboard. Silverware out of the drawers. Tubs of toys out of organizers. You know the best part? You don't get to play just once, it is an all day event!!
2. Hand print art. As they wanting look outside and wait for a break in the weather, grimy little paws make some interesting figures on window panes. It's up to you to figure out what they are intended to be. 
3. Organize This! This game will allow you to try, try again to find just the right way to get clothes back into a dresser drawer for the 5th time! Our little dears will tell you if you have it right or not. Get it wrong and you will know in 10 minutes or less. When you walk back in and find them all over the floor yet again :) 
4. NO! Not Again! Just as soon as you vacuum the floor of those long desired (or so you thought) Cheerios, your child will amuse you with the opportunity to try your hand at Cheese its. Personally I think this game should be called "How Good is Your Vacuum Cleaner?" 
5. You put what, where? You just have to love this one. Your child will excite you again and again with his or her ability to find out just what can go down a toilet bowl. Socks? Check. Bath tub toy? Check. Disposable diaper? YOU LOSE!! Guess What? That leads us to a new game called, "What's the plumbers number?" 

I hope this lovely selection will get you through part or most of your day. Everyone gets to participate and it really is a true family event. You may notice however, that some outside friends and family, while proclaiming their love for your children, refuse to come over for a couple of hours to play your family games, even if they are paid to do so!! Oh well. Better luck on a sunny day. 

Helping after game #4

Now!! Go play!! 

Celebrate the small things...

I had to back up just a bit with what I had intended to do with this blog.. Being new, I'm entitled to move things around a bit. My first main goal still stays the same. To keep my family in touch with what is going on in our life, and to help people such as myself to realize that MPS isn't as bad as it can seem. I mean it is as far as diagnosis goes, you can't change that. But I found myself with images of burying my daughter and planning a funeral and every other horror that every mother could make her self sick over. But you know what? Low and behold, after the sting of it went away, Emily was still here!! We are just learning to make some adjustments. May was a month for adjustments and small celebrations. 

    Last month, we did a few upgrades. Nothing big, but much better for Emily, that is for sure.  Alicia had a bigger carseat for Emily that she wasn't using anymore because her kids are wheelchair bound onw. So, we traded out Emilys cheap small booster carseat for an awesome bigger, much cozier one. She loves it. I also got her a Special Tomatoe EIO stroller. MAN, that thing has so much room in it. She actually looks comfortavble and not cramped up. Before we just had an umbrella stroller, so ya.. big difference. 

    With those little treats for her, it seems as though she rewarded me for her happiness. May brought several little accomplishments for little Miss Emily. The biggest one? She learned to ride her tricycle! Because of the issues with coordination, there are not many kids that figure out how to ride one. The pedaling part just doesn't register with them. Personally, I think she was watching the kids at school. You can watch her watch kids, and later she will try to figure out how to duplicate it later. I'm just so pleased as peaches that she figured it out! Now we can go for walks and stuff!! 

        It seems when she figures things out, we have a whole string of little accomplishments. She is trying to say play, and she is trying to sign it. Every few times she will say "want play" in her Emily verbage. 

   Another thing we did was draw a circle. Again, not huge but when you ask her to make a circle, it's a circle! We even get one dot for an eye. Our goal in EI is to make a face with a circle, two eyes and a smile. We are half way there!! 

   Now she is able to tell me which Barney episode she wants, and she wont settle for another one. She knows what she wants, and that is fine by me. At least it's not the same one over and over, lol she picks and chooses. The last little accomplishment is a summersault. She tries and tries but that buddah belly of hers and her backs refusal to bend at all (nothing wrong with her, she's just a chubby toddler) makes it kind of a mess. But she's getting it!! Now she's actually trying to stand on her head thanks to her pappa. 

   And last, but not least, Love Quilts made Emily a quilt!! I can't wait to get it, it's purple with bunnies on it. You have to pick 3 different themes for the ladies to make a quilt with.. my picks were Purple, flowers with insects (ladybugs) and soft animals (bunnies). The very next day she wrote me back and said they had a purple quilt with bunnies on it. Of course I said yes!! I still think its a coincidence, she says no, because they do extras all the time. But come on.. purple AND Bunnies?  I'll post pictures when I get it <3

Spring Fling 2011 at MLA!!!

Today was such a busy day!!!
      Emily goes to Margret L. Annear in Ceres. It is an early intervention preschool and twice a year they do a family play day. They set out all kinds of stuff for kids to do that is safe, and they are pretty much set loose to just have fun. Fallon got out of school and we took Ryan to join in. Daddy got to come too since his run didn't go out until 2 o'clock. Below are pictures, I think they tell the story well enough :)
     Having a SF kid isn't all doctors and illnesses.. I mean sure, we have our own issues, but we have the opportunity to think like a kid for a little while longer. For her everything is new and exciting. So for now, we are running with it, making lots of memories along the way!!
   

The little bounce house thing is always a huge hit.
Sadly she has to get out eventually
 so that other kids could play too.
Her biggest thing was bouncing
 from the back to the front
 then wouldn't be able to stop
 and face plant on the ramp going out.
It took her a full 4 tries before
 she finally got out of there w/o eating dirt.

Right next to her class was a music station.
 Everyone loves noise makers, Emily is no exception.
 She would play a little bit, then LAUGH!!
Play some more, and laugh again!
It was so cute. You gotta love that little girl <3

 

Do I even need to say what is about to happen here?

Emily's buddy, Owen. I guess they pal around
 a lot at school. He is SO cute!

A new week, a new month

    Monday marks the end of spring break for the Sawyer family. Not a moment too soon, either. Savannah goes to 6th grade camp and everyone else goes back to school, including Emily.
    We made the decision to put Emily into an early intervention pre-k class after learning of her diagnosis. There would be so many more things available to her there that are just not available to her at home. It wasn't an early decision either. Like so many others we have had to make, we wanted it to be the best one for her, not only from an developmental standpoint but a quality of life one as well. She just turned 3, and was diagnosed with a terminal illness. Plenty of people said I should keep her at home, let her spend time with family and enjoy the "best years" with her. Advisors said to put her in school in get the most into her head as we can, trying to get her to learn as much as possible before things start to fall off. It is amazing how well other people know how to best care for your child!!!
    In the end the decision was made, that after taking a "tour" of the school that we would put her in an early intervention class. There there is lots of self directed activities all supervised, of course. They get a good breakfast and lunch as well as a nap if the kids decide they want one. They get to play with all kinds of kids, and the playground is awesome.

It was the best move we have made!!

    Emily looks forward to the bus every morning, she even helps to put her seat belt on. The teachers say the is so adorable and artistic. I love her artwork :) The best part? All that energy is GONE!! There is no way I could build a playground like theirs in my back yard. When she gets home she is happy, and enjoyable to be around. She looks forward to dinner, and I don't have to give her so melatonin to help her fall asleep. She likes the structure that school brings. I like the peace it brings. Win/Win if you ask me!!

On May 5th, we have a family day at the school. Savannah will be gone but I'm gonna let Fallon, Ryan and Daddy go with us to play with Emily and have lunch at school. It will be a blast, I am sure. Pictures and details to follow!!

On future posts:
Spring Parents Day
Of Medicine and Trials
A special friend celebrates her 15th birthday!!

Stay tuned!!

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.