The foundation was formed after Jonah Weishaar, the son of Jill Wood and Jeremy Weishaar, was diagnosed with Sanfilippo type C at 22 months old. Jonah was asymptomatic at the time of his diagnosis and still is.
Jill and Jeremy hit the ground running, locating the world’s few scientists that were working on Sanfilippo, and seeking the support of like-minded parents. JJB brought these parents, scientists and clinicians to New York for a meeting in May of 2011, just one year after Jonah’s diagnosis. Together they identified the three most promising approaches to a treatment. The parents went home filled with hope and began their grassroots fundraising efforts. The scientists went back to their labs, inspired by the parents. Today there are half a dozen Sanfilippo research projects in progress.
Sanfilippo is fatal and there is no treatment. For Jonah and friends, the clock is ticking. Jonah will be five this July; right now he’s in the prime of his life. If the disease is not halted soon he will have profound brain damage, eat from a feeding tube and be unable to walk or talk by the time that he is a teenager.
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Sanfilippo Syndrome is caused by a defect in a single cell. It is an inherited disease of metabolism. This means that the body cannot properly break down long chains of sugar molecules called mucopolysaccharides or glycosaminoglycans (aka GAGs). Sanfilippo syndrome belongs to a group of diseases called mucopolysaccharidoses (MPS). Specifically, it is known as MPS III.
Sanfilippo Syndrome occurs when the enzymes the body needs to break down Heparan Sulfate (HS) are absent or are defective. When HS is not broken down, the body does not release it. Instead, it is stored inside the lysosomes of every cell in the body. There are 4 versions of Sanfilippo, designated Sanfilippo A, B, C and D. Type C is the most rare. It occurs in 1 in 1.4 million live births.
Sanfilippo is an insidious disease that often goes undetected for years. Most children are born with no visible signs that anything is wrong. It’s not until the preschool years that children start to show delays or deformities; even then, the disease is often misdiagnosed. Highly specialized and focused testing must be done in order to diagnose Sanfilippo.