Skin abnormalities: Most patients with TSC have skin bumps or patches located on various parts of the body, such as the face, nails, or back.
Tumor-like growths in the brain: Many TSC patients have tumor-like growths in the brain that can lead to a variety of neurological symptoms such as seizures, nausea, headaches, vomiting, learning difficulties, or behavioral changes.
A diagnosis of TSC can be made based on an assessment of symptoms or through genetic testing that identifies a mutation of the TSC1 or TSC2 gene.
Currently there is no cure for TSC. Patients are treated for their symptoms, not for the underlying cause of the disease. Anti-epileptic medications can help address seizures. Surgical procedures, creams, and other medicines can address tumors. There are currently companies investigating treatments for TSC and researchers analyzing patient data to better understand the condition so a cure may be found.
The average person with a rare disease sees 7.3 specialists over a span of 5-7 years before receiving an accurate diagnosis. AmbitCare Ambassadors provide free services including listening to understand your challenges, guiding you on potential next steps, and recommending resources.