Life with The Leivas: Someday Soon

Tuesday, July 26, 2011

Someday Soon

I will update the blog. I have plenty to share, big stuff, little stuff, silly stuff and deep stuff. Someday soon I will settle in with a big mug of coffee and endless amounts of time....But lately life has been very hectic. This scene happened in the 17 seconds it took me to pour a cup of coffee this morning. I've also taken to completely screening all phone calls, seriously unless you're one of Olivia's doctors or therapists don't expect anyone to answer if you call. I found my cell phone today in the kids shopping cart, buried under boxes of pretend food. These are all the priorities I can handle right now. Summer is going by to fast!

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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.