Sanfilippo syndrome falls into a category of diseases called lysosomal storage disorders, said Dr. Mark Korson, Ben's physician at the Floating Hospital for Children at Tufts New England Medical Center. Korson
, who specializes in pediatric metabolic diseases, explained that children afflicted with Sanfilippo are missing an enzyme that is needed to break down a complex body sugar.As this sugar molecule accumulates in the cells, tissues, and brain, it causes progressive damage, leading to a loss of language and cognitive skills, the ability to walk, and, ultimately, death.In cases of Sanfilippo syndrome, Korson
said, "the brain is the most affected organ."
It is still a relatively unknown disease that often goes undiagnosed until age 5 or 6, said Korson
, when children exhibit obvious speech and language problems.
"Doctors are not very well trained about metabolic disorders," he
said."It's hard to diagnose what you've never seen or heard about."
A Sanfilippo child might develop normally for a few years, Korson
said, but then may develop upper respiratory problems, recurrent ear infections, and delayed speech.It's not until the accumulation of sugar causes symptoms such as hyperactivity, irritability and restlessness, sleep disorders, stiffening joints, and further delayed development that the pieces get put together.
The disease affects about 1 in 25,000 births, according to the National MPS (Mucopolysaccharides) Society.Both parents must be carriers of the gene, something the Siedmans were not aware of when they married 13 years ago.
After Ben was diagnosed, the Siedmans joined forces with parents of a Sanfilippo child in Chicago to raise money for research on the disease.