About Jonah
Jonah Wood Weishaar is three years old and loves Elmo, throwing his ball in the park, stacking blocks, and patting dogs. And he is slowly dying.
At his one-year-checkup, Jonah's doctor observed that his head circumference was “off the charts,” and suggested an MRI.
Diagnosis
Jonah was diagnosed with Sanfilippo Syndrome, Type C. He lacks a crucial enzyme to break down a toxic material that is now accumulating in his body. In time, this buildup will result in any number of injuries to his body: brain damage, bone deformation, organ and tissue damage, followed by death. There is currently no cure for Sanfilippo Syndrome.
What is Sanfilippo?
Sanfilippo Syndrome is an inherited disease of metabolism that makes the body unable to properly break down long chains of sugar molecules called glycosaminoglycans (GAGs) or mucopolysaccharides. The syndrome belongs to a group of diseases called mucopolysaccharidoses (MPS). Specifically, it is known as MPS III.
Sanfilippo Syndrome occurs when the enzymes needed to break down the heparan sulfate sugar chain are missing or are defective. As the substrates cannot be properly disposed of, they are stored inside the lysosomes of every cell in the body. MPS is a Lysosomal Storage Disease (LSD). As the GAGs buid up over time, they damage the cells which in turn leads to progressive central nervous system degeneration.