Serious disease highlighted during tuberous sclerosis awareness month

Tuberous Sclerosis Awareness Month is a time to reflect on the serious genetic disease that affects tens of thousands of children and adults in the U.S. alone: tuberous sclerosis.

Approximately 25,000 to 40,000 people in the U.S. have tuberous sclerosis (also known as tuberous sclerosis complex), which is characterized by the growth of non-cancerous tumors in vital organs. These tumors can manifest in the kidneys, brain, lungs, heart and eyes, and may lead to severe complications and even death.

Tuberous sclerosis can cause several manifestations, including seizures, developmental delay, autism and swelling in the brain, also known as hydrocephalus. Conditions like these are the most frequent cause of disease-related disability among patients living with the disease. Additionally, skin lesions associated with the disease can cause physical disfigurement. These are just some of the reasons this disease can take a toll on quality of life for both patients and their caregivers.

Fortunately, government leaders are taking notice; Vice President Joe Biden has written about the toll of tuberous sclerosis on patients and earlier this year, the United States Congress earmarked $6.4 million for the Tuberous Sclerosis Complex Research Program. This pledge by the US government represents a positive and important commitment to patients and their families living with this disease.

"In recent decades, the level of understanding of tuberous sclerosis in the medical community has grown exponentially to give us the knowledge we now have to better manage this disease. This speaks to the progress and importance of continued research," says Robert Flamini, MD, medical director of The Children's Epilepsy Center at Children's Healthcare of Atlanta.

The Weingarth family from Suwanee, Georgia can attest to the importance of tuberous sclerosis research. Meghan Weingarth, age 5 and a patient of Dr. Flamini's, is living with non-cancerous brain tumors caused by tuberous sclerosis. The disease has led to frequent seizures and facial lesions.

"The focus on medical research for tuberous sclerosis gives families like mine hope that the lives of our loved ones who have this disease can continue to improve," says Jennifer Weingarth, Meghan's mother.

Novartis Pharmaceuticals Corporation has been recognized by the National Organization for Rare Disorders for the company's research in the area of tuberous sclerosis. Learn more about tuberous sclerosis from the TS Alliance online at www.tsalliance.org. The TS Alliance and its websites are independently operated and not managed by Novartis Pharmaceuticals Corporation, which assumes no responsibility for any information they may provide.

Did you know?
* Approximately 25,000 to 40,000 people in the U.S. and 1 to 2 million people worldwide are affected by TS. Diseases with similar U.S. prevalence rates include cystic fibrosis (approximately 30,000 people) and Bell's palsy (approximately 40,000 people).

* Skin lesions and seizures are common symptoms of TS, affecting up to 90 percent of patients with TS.

* Because symptoms are subtle and misdiagnosed, many children are not diagnosed until later in life, often with the onset of seizures, skin lesions or other significant symptoms, such as developmental delays.