What is TSC?

What is TSC?

I am not a doctor, however this is what I know about my condition so far...

The Tuberous Sclerosis Complex is a rare genetic disease. TSC is caused by the mutation of either of two genes, TSC1 or TSC2. These genes are the code for proteins. Proteins which regulate cell proliferation (Cell proliferation is the process that results in an increase of the number of cells, and is defined by the balance between cell divisions and cell loss through cell death or differentiation. Cell proliferation is increased in tumours.) and differentiation (The process by which a cell becomes specialized in order to perform a specific function, as in the case of a liver cell, a blood cell, or a neuron. There are more than 250 general types of cells in the human body.)

Because the mutation is unique to each individual, the disease is unpredictable, therefore causing many symptoms, and levels of severity. For example TSC can cause;

A young lady with Angiofibromas.

• Epilepsy and/or Autism 
• Developmental Delay
• Behavioral Difficulties
• Cardiac Rhabdomyomas (growths on the heart)
• Cartical tubers and/or Subependymal nodules on the brain
• Angiomyolipomas on the kidneys
• Lymphangioleiomyomatosis (growths on the lungs)
• Abnormalities on the skin; numbered 1-4.

1. Hypomelanic Macules (white patches, which form on the limbs of the person)
2. Angiofibromas (a facial rash)
3. Shagreen Patches (a thick skin on the lower back)
4. Ungual Fibromas (growths on or under the finger and toe nails.

The level of severity of someone with TSC is determined by the amount the disease affects the brain. For instance the type of epilepsy the is caused by the disease, how many seizures a day the person has, or whether a person possesses epilepsy or autism, and lastly to what extent the disease has impacted their development. Thus making the disease inconstant and unpredictable. 

In my case for example; the severity of my disease has left me with all the skin abnormalities and epilepsy. Therefore I can state with complete confidence, that in a life with TSC for either a parent or child... There is never a dull moment.