What is MPS IIIA / Sanfilippo Syndrome
Sanfilippo Syndrome is a recessive autosomal genetic disease. Children with Sanfilippo Syndrome are missing an essential enzyme needed to breakdown and dispose of long sugar chains in the body called mucopolysaccharides. also known as GAGs. Because these sugar chains cannot be broken down and disposed of they accumulate in the cells causing progressive damage. 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.
Now, I know of another Foreign Service family who not only have one but two children who suffer from this illness. In fact we were in Israel when we got word that they needed help in getting back to the US. "at the time they were posted in England" and had just found out that their little boy Oliver tested positive. They already knew of their daughter Waverly. Two beautiful children who are regressing everyday. I can't even imagine what it must be like as parents watching your children decline everyday; they never know what tomorrow will or will not hold. If Waverly will be able to smile or if Oliver will be able to walk without help.
The color for MPS is Purple. Please try to raise awareness in your community.
Thank you for that story Terry. We all should be more aware of this terrible disease.
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