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One of the worst bits of a news that a parent can ever hear is that there is something wrong with their child. When the prognosis and course of treatment of the disease are poor, the situation only becomes more frustrating. One of the most common types of neurocutaneous disease that exist is called tuberous sclerosis. This is a disease that is inherited from parents with genes for this disease. It is considered to be autosomal dominant and the severity of the disease can vary depending on the patient.

There is a mutation in the TSC1 and TSC2 genes that can lead to problems throughout the whole body.

It is a disease that occurs because the cells in your body do not have a natural mechanism to stop dividing. This will lead to the rapid eruption of tumor cells throughout the body that can be found in any cavity of the body. The most common sites are the heart, the brain, and the skin. Neurological manifestations of the disease are some of the more life challenging symptoms of the disease and can include conditions like infantile spasms, epilepsy, cognitive disabilities, and autism. 

It is a disease that is diagnosed typically within the first 6 months of a patient's life and may be associated with multiple manifestations before a doctor can make the diagnosis. Genetic studies and a family history of the disease can hasten the ability to diagnosis and begin treatment of the disease. 

Treatment for the disease varies substantially according to the symptoms and doctors may try to first do surgeries in order to remove any of the growths on internal organs that occur because of the disease: 

The skin manifestations of this disease can sometimes be treated with a drug called Sirolimus. This will be able to help reduce the acne-like growths that are associated with the disease.

A new drug called Everolimus has been recently approved in order to help reduce some of the growths that may occur in the brain and the kidneys.

Patients are also sometimes given anti-seizure medications in order to help reduce the number of epileptic episodes that a patient may experience as the tumors grow. 

Because this is a genetic modification, treatments are unfortunately temporary fixes to recurring problems. Due to the multi-organ involvement, patients can have high blood pressure, problems breathing and irregular blood pressures. If you are lucky, you will have a mild form of the disease and symptoms may not become too bothersome for you. If the tumors have grown in areas where it will be hard for surgeons to operate, the prognosis is much more bleak for the patient. Tumors in the brain can cause more and more frequent bouts of seizures. 

Research studies are still currently being conducted to try to give more options to patients suffering from tuberous sclerosis but it is painstakingly slow for families afflicted with the disease now and still waiting for a cure. Counseling and specialized care are some of the most effective methods that medicine can offer to the patients who are severely affected by this disease. [1]

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