When Kristen Moore’s son Jackson was first diagnosed with tuberous sclerosis complex (TSC), she decided to translate her emotions into action. As WSOC-TV reports, she dove into education, awareness, and advocacy. Not only did she learn as much as she could about TSC, but she tried to share it with others. To Kristen, TSC should be just as well-known as amyotrophic lateral sclerosis (ALS) or cystic fibrosis (CF), both of which she says affect similar amounts of people.
On May 6, 2023, Kristen is helping to oversee the Rock Hill, SC walk as part of the 2023 Step Forward to Cure TSC® Global Hybrid Walk-Run-Ride. “Step Forward to Cure TSC” is an initiative which brings the community together to support the TSC Alliance, raise continued awareness, and fund research into tuberous sclerosis complex and potential cures. Kristen is also hoping to meet more families from North Carolina, especially in Charlotte or the surrounding area, who are affected by TSC.
Understanding Tuberous Sclerosis Complex (TSC)
Tuberous sclerosis complex is a rare genetic multisystem disorder that causes benign (non-cancerous) tumors to form in different organs. These tumors, called hamartomas, often affect the eyes, skin, lungs, kidneys, heart, and brain. TSC1 or TSC2 mutations cause this disorder. These genes normally regulate cell growth, so the mutations allow cells to grow unchecked. In most cases, TSC is diagnosed in infancy or early childhood. However, in individuals with mild symptoms, a diagnosis may not come until they are adults. TSC is variable, meaning it affects everyone differently in symptoms and severity. Potential symptoms may include:
- Facial lesions resembling acne
- Skin abnormalities such as thickened skin or patches of light-colored skin
- Growths under or around the nails
- Scalp lesions with hair loss or thick white hair
- Behavioral problems such as hyperactivity, aggression, repetition, or social/emotional withdrawal
- Developmental delays
- Loss of organ function