TSC Global Awareness Day Date in the current year: May 15, 2024

Tuberous sclerosis complex (TSC) is caused by a mutation of either of two genes, TSC1 that codes for the protein hamartin or TSC2 that codes for the protein tuberin. These proteins regulate cell proliferation and differentiation and thus suppress tumor growth.

About two-thirds of all TSC cases result from a spontaneous mutation, and the rest are inherited from a parent who also has TSC. The disease has an autosomal dominant pattern of inheritance, meaning it is not linked to sex chromosomes. TSC is considered a rare disease; it occurs in 7 to 12 per 100,000 births, with more than half of these cases going undiagnosed. The disease occurs in all races and ethnic groups and affects men and women in equal numbers.

As it’s already been mentioned above, TSC can cause the growth of benign tumors in different organs, which means that its signs and symptoms will depend on the organ or organs affected. The disease affects everyone differently; some are severely impacted and have serious disabilities while others have only mild symptoms and live their lives mostly unaffected by the disease. Even identical twins with TSC can have different symptoms.

Brain tumors associated with TSC lead to neurological symptoms such as developmental delay and intellectual disability, behavioral problems, seizures, and psychiatric disorders. About 60% of individuals with TSC have kidney tumors that cause the presence of blood in the urine and may result in internal bleeding. Skin abnormalities associated with TSC, which are presents in 96% of TSC patients, typically cause no serious problems, but they are helpful in diagnosing the disease. Other organs, such as the lungs, eyes and pancreas, can be affected too.

TSC Global Awareness Day was launched in 2013 by Tuberous Sclerosis Complex International (TSCi), a global consortium of organizations supporting TSC patients that enables its members to exchange ideas and methods, co-fund TSC research, share relevant information and resources with healthcare providers and educators, and support individuals with TSC and their families and carevigers.

The main goals of TSC Global Awareness Day are to raise public awareness of this rare disease, give TSC patients hope for the future, and promote TSC research and better access to care and treatments. TSCi and TSC organizations around the globe mark the day with awareness campaigns, fundraisers, seminars and webinars, and other events and activities.

You can observe TSC Global Awareness Day by participating in an event near you, joining a virtual event or even organizing an event of your own, donating to or volunteering for an organization that supports TSC patients or funds TSC research, wearing blue clothes or a blue awareness ribbon to start conversations about TSC, and spreading the world on social media with the hashtags #TSCGlobalAwarenessDay, #TSCGlobalDay and #United4TSC.