Life with The Leivas: May 2012

Monday, May 28, 2012

Phone Favorites--Olivia

I went through the 987 photos on my phone. Here are a few of my favorites of Olivia. I really should do this more often, although it is fun to look back at the last 6 months.

Tuesday, May 15, 2012

Mike is away for military training so I'm the lone parent-on-duty for the next several weeks. I've been dreading this particular trip. It's one thing when he's away but it's a different story when he's away and the school year is ending and I have to travel for work and there are doctors appointments and IEP meetings and work deadlines looming. My sister will be visiting to help and I have a 2 page list of blog posts to catch up on and season 2 of Downtown Abbey to catch up on. I'm hoping the next several weeks fly by!

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.