Life with The Leivas: TGIF!!!!

Friday, February 26, 2010

TGIF!!!!

This week we....

Had 2 Speech therapy sessions
Had 1 Occupational therapy session
Had our first official school session
Learned that Olivia and Peter can crawl onto the kitchen table by themselves
Stayed up too late watching the Olympics
Finished and filled our 2009 Tax Return
Interviewed 2 babysitters
Had 2 Physical therapy sessions
Sold some old stuff on Craigslist
Ruined the netbook by dumping coffee on it
Went to cheer on Mike as he participated in an wrestling tournament
Spent 2 hours on hold with the insurance company
Did NOT have to drive to Duke on Wednesday
Cleaned the house too many times to count!
Had some great phone conversations with good friends that I don't talk to nearly enough

I'm so glad this week is over. We don't have big plans for the weekend but I'm ready for a break!

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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.