The Forgotten Patients

Though 1 in 25,000 newborns is diagnosed with Sanfilippo syndrome, a Tufts expert says the patients are often overlooked.

Boston [07.15.02] -- Each year, one in 25,000 children are born with Sanfilippo syndrome--a rare condition that prevents the babies' bodies from processing sugars. Without any way to break the sugars down, or stop them from building up in the body, the sugars become a slow-acting poison. While hundreds of newborns are born with Sanfilippo every year, a Tufts expert says most go untreated because most doctors don't know how to recognize the deadly condition.

"Doctors in general are very poorly trained in these metabolic disorders," Dr. Mark Korson - a specialist in pediatric metabolic disorders at the Floating Hospital for Children at the Tufts' New England Medical Center - told the Cape Cod Times. "It's not in their minds. It's a fault of our whole system."

According to the Tufts expert, the number of physicians that are board-certified to treat metabolic disorders has been on a decline: Only 21 doctors in the country passed in 1999, down from 29 in 1993. As a result, these rare conditions continue to be missed by physicians.

"My concern is that no one will diagnose these kids. These disorders are forgotten and the patients are forgotten," Korson - an assistant professor of medicine -- told the Times.

In the case of Sanfilippo syndrome, many patients aren't diagnosed until the disease has significantly progressed.

As sugar accumulates in the cells, tissues and brain, Korson told The Boston Globe that the disease causes the loss of language, cognitive, and motor skills and eventually leads to death.

"The brain is the most affected organ," Korson told the Globe.

Those with Sanfilippo syndrome have an average life expectancy of 10 to 15 years. The syndrome is incurable so far and is usually undetected until a slew of symptoms have accrued. Korson explained that a child might develop upper respiratory problems, recurrent ear infections, and delayed speech. Then hyperactivity, irritability and restlessness, sleep disorders and stiffening joints become problems.

Because many doctors don't know how to recognize the incurable disease, the first diagnosis often comes after the children show major symptoms, said the Tufts expert.

"It doesn't become clearer until later on in childhood until the child develops neurological problems, like losing their speech," Korson said.

Concerned about the difficulty doctors have diagnosing the syndrome early enough to treat it, Korson told Boston's local NBC affiliate that many children remain undiagnosed until the age of seven.

For other rare conditions, doctors have turned to screenings to help their diagnosis.

While many in the medical community advocate screenings for disorders that can be treated, there isn't as much support for similar measures for non-treatable disorders like Sanfilippo. There is little doctors can do, Korson says, until a cure is found.

There is, however, some hope a cure will be found for the deadly condition.

Recently, scientists have studied an enzyme they hope will one day help children with the syndrome to break down sugars before they reach toxic levels.