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Tuberous sclerosis? Sudbury mom tries to create awareness of disorder

Ask people if they've ever heard of a disease called tuberous sclerosis, and they'll probably look at you and think you've mispronounced tuberculosis.
Terry_Trypus_290
Terry Treppis, 4, has tuberous sclerosis. One million people worldwide suffer from this disorder characterized by skin abnormalities and birthmarks; tuber-like growths in the eyes, the brain, and other internal organs; and sometimes varying severity of epilepsy and mental retardation.

Ask people if they've ever heard of a disease called tuberous sclerosis, and they'll probably look at you and think you've mispronounced tuberculosis.

Tuberous Sclerosis Canada (TSC), an organization dedicated to raising awareness of the disease, says a child is born with the disorder every 20 minutes, and more than one million people suffer from it worldwide.

Yet it's a virtually unknown disorder. People who have it, or who may be carriers may not know they have it.

Tuberous sclerosis is a genetic disorder that affects vital organs  including the brain, skin, kidneys, eyes, heart and lungs. The disease can cause mental retardation, seizures, and a number of physical abnormalities. While some people can lead normal, healthy lives, others are severely afflicted by the disease.

Terry Treppis, 4, has been diagnosed with tuberous sclerosis and has tubers growing in his brain and eyes that may one day leave him blind.

"He's a normal little child . . . He lives his life like anybody else," says Terry's mother, Suzanne, who is doing everything she can to raise awareness of her son's disorder.

"It's nothing to be scared of," says Treppis. "It's just like raising my other children, I just keep an eye on him and watch for seizures.

"He's not sick, he's a normal four-year-old."

"He does have some difficulty," Treppis admits. "A normal four-year-old could write his name, some could even write ABC, but he has a hard time."

While there are surgical options available to remove the tubers, Suzanne would rather not put her son under the knife and hopes a cure can be found.

There is no funding or research going on in Canada.

"We have no government funding whatsoever," said Karen Shulist, a TSC board member whose son Noah also has tuberous sclerosis.

"We have invested money into research in the past . . . unfortunately we end up having to send it to the United States.

"Ultimately we really don't care where a cure comes from . . . the United States has already started research in regards to different drugs.

Finding a cure would be great but right now it's about finding the right drugs that can possibly shrink the tubers," she said.

How far off the radar is tuberous sclerosis?

"The Ministry of Health doesn't even have us on their website as a link to our organizations' site, which is disgusting," Shulist said.

A call to the communications officer at the Sudbury and District Health Unit, who e-mailed  the query internally, could provide no information on the disease.

"It's unfortunate that we're not recognized and I think partly because there are too many conditions out there," said Shulist.

Similar to other organizations clamouring for a spot in the public eye, TSC is looking to take advantage of celebrity appeal when they host a charity golf tournament June 3 in Ajax. Canadian comedian Dave Foley and ET Canada reporter Rick Campanelli are on board to help raise awareness.

For more information, contact Tuberous Sclerosis Canada, 45 Bolland Cres., Ajax, Ont., L1S 3G8 or phone (English) 1 800 347 0252; (French) 1 866 558 7278. The website is http://www.tscst.org .