Life with The Leivas: Jello

Thursday, April 30, 2009

Jello

There was a time about a year ago when I sat with Olivia at the kitchen table trying to get her to say jello. I sat there patiently encouraging her, trying to help her until I was crying. She loves jello and she was trying to say it but just couldn't get the word out. Now I'm listening to my beautiful little girl who just had her tonsils out yesterday and spent the night in the ICU sitting at that same kitchen table cheerfully talking to her orange jello. She's not just saying jello but she's using two words to talk about her yummy jello. She's eating it with a spoon, all by herself. Please pray that they approve her transplant, we should hear something today.

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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.