Life with The Leivas: The 12 Month Studies, Day 2

Tuesday, July 20, 2010

The 12 Month Studies, Day 2

Today we headed over to the Children's Hospital at the University of North Carolina so that Olivia could be evaluated by the Neurological Function in Rare Disorders folks. The day went smoothly but I'm too tired and drained tonight to share much about our day. I'll share some more about what we learned a little later on but for now I can say that I think Sanfilippo syndrome sucks. I think all lysosomal disorders suck. I think regression and degeneration in general suck.

But just to make sure we end on a positive note I will share that prior to our trip I researched restaurants in the Durham area that had kids nights or kids eat free specials. So far we've enjoyed free dinners at Red Robin, a local Mexican restaurant (where we also enjoyed $2 margaritas), and a local brewery. The kids are loving the free balloons that are accompanying the kids nights and the experience of eating out, a rare treat for us!

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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.