Tuberous Sclerosis

Tuberous Sclerosis
By: Wendy Ray

You've probably never heard of tuberous sclerosis, even though it's as common as Lou Gehrig's disease. At least two children are born with tuberous sclerosis each day. It's a genetic condition that can lead to mental retardation and autism, the key is to catch it early. Friday, we spoke to Laura Kozisek. Laura's son, Jackson, has the condition.

"B

asically he has tumors throughout his brain, on his heart, on his kidneys, and on his skin," Laura says. Jackson Kozisek has had his share of health struggles and he's only two and a half years old. Jackson started having seizures when he was three months old, neurological testing showed they were caused by tuberous sclerosis complex, or TSC. "At three months old we got the seizures under control, within a couple of days," Laura says. "At six months he started having seizures anywhere from ten to 12 a day, until he was 21 months old."

Laura was told her son would always have seizures and he would be severely mentally retarded and autistic, but she wouldn't accept that diagnosis. Jackson was put on a new medication and he stopped having the seizures thirteen months ago. The seizures though, took their toll. "He has no speech, his gross motor skills are at 50 percent delay. Even though he's almost three and he's at about a one year old's level," she says. Laura says it's very important to catch TSC early. "If we could have gotten the seizures under control at an earlier age we could have had a normal development, but since they went on for 15 months that's where we really hurt the cognitive development," she says.

One third of the time TSC is inherited, but in other cases it's caused by a mutation that happens at conception. That's how Jackson got the condition. There was nothing his parents could do to prevent it. Laura doesn't know what the future holds for Jackson. She works with Jackson all the time in hopes he will get better. "We don't expect a completely normal life. We think he'll have struggles, but we're hopeful," she says.

Laura adds that some people can live with TSC their entire life without a seizure. She says a lot of people aren't diagnosed until they're adults.