Life with The Leivas: End In Sight?

Saturday, February 19, 2011

End In Sight?

I am so ready for the end of winter! Despite being ready for warmer temps and more time outside I am beyond ready for the end of the cold and flu season! Last year the entire cold and flu season seemed to pass us by with little more than a sniffle. Of course we were still ubersensitive about Olivia's immune system and we didn't leave the house. This year has been a different story! I feel like we've spent the last 4 months taking turns being sick.

Peter is the one with the sniffles this week.

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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.