Our daughter Emmaus is affected with a rare disease called Tuberous Sclerosis complex. Read about our experience HERE and on the TSC section of the side bar.
Tuberous sclerosis or tuberous sclerosis complex (TSC) is a rare multi-system genetic disease that causes non-malignant tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. A combination of symptoms may include seizures, developmental delay, behavioral problems, skin abnormalities, lung and kidney disease. TSC is caused by a mutation of either of two genes, TSC1 and TSC2, which code for the proteins hamartin and tuberin respectively. These proteins act as tumor growth suppressors, agents that regulate cell proliferation and differentiation.
Basically she lacks the genes that supress tumor growth. This will effect multiple organs. Currently including her brain, heart and skin. She suffers from seizures daily.
To learn more about tuberous sclerosis or to get involved go HERE
To donate to the Emmaus Roadies team for the TS walk, or to join the team go HERE