42 years old
Stevie was born in 1979, and his parents, Tim and Kathi, thought his birth was perfectly normal with no issues. Then at about six months old he started having infantile spasms, so the family went to the emergency room. Luckily the pediatric neurologist on duty was familiar with TSC and noticed the ash leaf spots, the spasms and tubers in the eyes. A CT scan of the brain showed tubers there, and Stevie was formally diagnosed with TSC.
Unfortunately, the physician didn’t offer much hope. Kathi’s dad went to the library and found TSC described in an encyclopedia, which sounded terrible. But Kathi and Tim still had hope Stevie would be one of the lucky ones with just a mild form of TSC. Unfortunately, that was not the case as Stevie is profoundly intellectually delayed, non-verbal and autistic. He has tubers in all his organs as well as facial angiofibromas and epilepsy.
Over the years, Stevie has been on just about every seizure drug available as well as a VNS, yet he still has seizures. The good news is that a few years ago Stevie began taking Afinitor and his seizures went from 16-20 per month to 0-3! This medication has also helped him be more interactive with his family and the staff at his group home – he looks at people more and is better able to follow commands.
So far at age 42 Stevie has not had any kidney problems or anything else other than the seizures. Back in 1979 the mortality rate was 20-30 years, but Stevie is now doing well, and his specialists believe Stevie will be fine for many years to come. Most importantly, Stevie’s a pleasant man with a funny laugh, and everyone who works with him loves him!