This summer, as Steven was gearing up for a local Special Olympics softball competition, he experienced a seizure that caused him to fall onto a concrete sidewalk and fracture his jaw in two places. Doctors said he wouldn't be able to play sports for the next eight weeks while he recovered - a devastating blow for Steven, who had been training for months.
The seizure was a result of Steven having tuberous sclerosis complex, or TSC, a rare genetic condition that affects between 25,000 and 40,000 people in the US. Steven was diagnosed with TSC at three months old after his parents, Mandy and Scott Striegel, took him to a neurologist when he started having seizures called infantile spasms.
'When Steven was first diagnosed we were relieved to finally have an answer about what was causing the infantile spasms. But at the same time, it was scary because no one had ever heard of TSC,' said Mandy.
TSC can affect multiple parts of the body, including the brain, kidney, skin, heart and lungs. TSC affects people to varying degrees, from very mild, where patients have only a few symptoms and live normal lives, to severe. However, the disease is unpredictable, and manifestations can occur throughout a patient's lifespan, so regular monitoring by a multidisciplinary healthcare team is important for every person affected by the disease. Steven has kidney and brain tumors as well as lesions on his face and is monitored by a team of physicians specializing in TSC to ensure his tumors are not growing and becoming dangerous to his health. In addition, he often experiences seizures like the one in late July that can affect his ability to perform everyday activities, but his parents say the Special Olympics helps their son cope with his condition.
'It's important for Steven to compete for many reasons - it keeps him active, gives him a tangible goal and reinforces the importance of sportsmanship and being a team player,' Scott said. 'Steven's positive spirit and determination to continue competing despite a severe injury is a true inspiration to his family and friends.'
Now the Striegels are helping to raise awareness of TSC by teaming up with Novartis, in partnership with the TS Alliance and the Special Olympics, by sharing Steven's inspiring story. Visit tscathletes.tumblr.com to learn more about TSC and Steven's journey.