Life with The Leivas: On the right track

Tuesday, October 19, 2010

On the right track

One of the realities about being a parent to a child with special needs is that it's all uncharted territory. I feel like I float along bouncing from therapy session to intervention meeting to seminar to doctor appointment and then all around again. All I know for sure is that I love my baby girl and I want to do everything I can for her. It doesn't help that Sanfilippo syndrome is so very rare. There are moments of amazing clarity when I know without a shadow of a doubt that I am on the right track. The universe aligns and someone happens to say just the right thing at the most random moment. These moments give me confidence and inspiration and they allow me to just relax and enjoy Olivia for who she is. Those moments make up for all the ridiculous and ignorant things that people say without thinking or realizing what their words mean. Today I had two of those special moments and I am so grateful to know that I am on the right track!

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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.