Life with The Leivas: Glimpses of our little girl

Monday, December 28, 2009

Glimpses of our little girl

We were expecting the inpatient phase of Olivia's transplant to be the worst but because we were anticipating it didn't seem so bad. The last 5 weeks have been the most difficult. Olivia wasn't herself and we didn't really know why. We did see glimpses of the "old Olivia" here and there but she wasn't really there. I think that over the last couple of days we seem to have turned a corner and we're seeing more and more of our little girl. At dinner tonight she finished her entire meal and even used her fork appropriately. She was so proud of herself, her eyes were shinning. It was beautiful to see the "old Olivia". I hope we get to see more and more of her!

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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.