Life with The Leivas: Sanfilippo syndrome in the National News

Wednesday, October 6, 2010

Sanfilippo syndrome in the National News

I was so excited to see Sanfilippo syndrome in the national news! Good Morning America did a very short segment on Sanfilippo syndrome and orphan drugs this morning. The child in this particular story has type C, Olivia has type B. There are 4 types of Sanfilippo syndrome--A, B, C, and D. In case you missed it this morning here's the link to the story:

http://abcnews.go.com/GMA/OnCall/jonahs-story-mother-seeks-cure-sons-rare-genetic/story?id=11805602

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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.