Life with The Leivas: Where does the day go....

Tuesday, May 4, 2010

Where does the day go....

So I had every intention of finishing the slideshow of photos from the Rainbow of Heroes walk to post today but then I got distracted by scrubbing all three bathrooms, doing 4 loads of laundry, 2 loads of dishes, cooking 3 meals for the kids, attending a 2 hour FRG steering committee meeting, and having a huge tickle fight with Olivia. Whoops :)

Olivia has been talking up a storm today, she told her babysitter that she wanted an "apple please" and then when I walked back in from my meeting and said "hi livey" she said "hi, hi you". I'm trying to just enjoy these words without over thinking them (how long will they stay, will she not speak at all tomorrow, did she really mean them or was she just using random words, were they meaningful to her, etc....the other sanfilippo mom's are sure to understand).

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MPS/Sanfilippo Syndrome

In October, 2008 Olivia was disgnosed with MPS III or Sanfilippo Syndrome, type B. MPS stands for: Mucopolysaccharidoses. It is a genetic lysosomal storage disease (LSD) caused by the body's inability to produce specific enzymes. Normally, the body uses enzymes to break down and recycle materials in cells. In individuals with MPS and related diseases, the missing or insufficient enzyme prevents the proper recycling process, resulting in the storage of materials in virtually every cell of the body. As a result, cells do not perform properly and may cause progressive damage throughout the body, including the heart, bones, joints, respiratory system and central nervous system. While the disease may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulation of cell materials.

Babies and young children with Sanfilippo Syndrome appear normal, but symptoms begin to appear with age as more and GAGs build up in the cells of the body. There are 3 stages to the disease. Stage 1 the child begins to lag behind peers and begins to display difficult behaviors. Stage 2 the child losing his/her language, becomes hyperactive, chews on everything, and has sleeping difficulties. Stage 3 the child slows down, becomes dependant for all mobility and loses the ability to chew/swallow. There is no treatment or cure for Sanfilippo. Life expectancy varies.