Tuberous Sclerosis Complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors. Tuberous Sclerosis Complex is caused by decreased or absent expression of the genes and is characterized by the growth of hamartomas in the kidneys, brain, heart, liver, as well as the skin. These hamartomas cause patients to organ system dysfunction, including autism spectrum disorder, intellectual disability and epilepsy.
Virtually all affected people have skin abnormalities, including patches of unusually light-colored skin, areas of raised and thickened skin, and growths under the nails. Tumors on the face called facial angiofibromas are also common beginning in childhood. When TSC affects the brain it can cause many other problems as well including developmental disorders which affects communication and social interaction. Tuberous Sclerosis Complex affects about 1 in every 6,000 people.
How is TSC diagnosed? TSC can materialize in numerous ways, where diagnosis is usually determined when physicians can identify any two of the major prominent features of Tuberous Sclerosis in the same individual. One major feature is cardiac rhabdomyoma which is an abnormal growth in the heart muscle generally found in young children. Another major feature of TSC consist of specific abnormal skin growths or skin pigmentation.
Dr. Bissler is a pediatric nephrologist and his expertise is Tuberous Sclerosis Complex. His medical career began at the Cincinnati’s Children’s Hospital in Ohio over twenty years. He also has a team and is heavily involved with research for clinical trials for new treatments and medications for the disease. Dr. Bissler currently has his practice of over 1,000 patients with Tuberous Sclerosis renal disease at the University of Tennessee Health Science Center.
I can’t strongly emphasize enough the crucial importance of searching for the most knowledgeable doctors in the field. It is the difference of night and day of what the outcome of your success will be in treatment and survival of living with TSC. Dr. Bissler is one of two doctors in the country that has this extensive knowledge of the renal disease. He has treated and cared for hundreds of children and adults suffering with TSC changing their lives. He is an exceptional doctor.
I had the opportunity to be treated by Dr. Bissler with a related disease called Angiomyolipoma which is tumors on the kidneys. When my diagnosis was so grim I turned to Dr. Bissler for help as so many other people do. My diagnosis was from several doctors there was no saving my left kidney. After being treated by Dr. Bissler he saved my kidney, today I am doing very well. Being on the right medications has shrunk my massive tumor. I still have them but they are under control not causing any further health risks. I am extremely grateful to him. He has a true gift and has improved the lives of so many who were suffering from this horrendous disease.
What can be done since there is no cure for Tuberous Sclerosis Complex? Early diagnosis and intervention is the answer to overcome developmental delays. The research data shows that an early seizure control in children can significantly improve learning when compared to children without having good seizure control. There are advancements in medical research which continues to bring new improved therapeutic options to those who suffer from TSC.
One of the leading center of excellence in clinical care and research of Tuberous Sclerosis Complex is the Le Bonheur Children’s Hospital in Memphis Tennessee Health Science Center. The clinic has been designated by the National TS Alliance. At the multidisciplinary clinic children have access to pediatric experts in Cardiology, Neurology, Pulmonology as well as Urology all in one center. The TSC clinic is headed by Pediatric Nephrologist John Bissler and co-directed by Dr. Jim Wheless, a neurologist, who specializes in epilepsy. The clinic offers educational programs for families providing the best care possible.
Through the Tuberous Sclerosis Alliance, the clinic has the ability to offer families with crucial information to help them understand the disease to better assist them in communicating with their child’s school and teachers.
The knowledgeable physicians at the clinic are leaders in the treatment and research of TSC. The researchers at Le Bonheur and the University of Tennessee Health Science Center has developed a topical cream that has proven positive results in the treatments of facial lesions that are associated with TSC. Prominent skin lesions occur in more than 90 percent of TSC patients.
The Tuberous Sclerosis Alliance is located in Silver Springs, MD. The Tuberous Sclerosis Alliance Support Community brings together everyone affected by Tuberous Sclerosis Complex for support, encouragement and inspiration.
Rapamune is a prescribed drug, a sirolimus. In my case with kidney tumors my physician instructed me to take it in controlling the growth of my tumors which has been successful. It has also significantly shrunk the tumors. This drug as well as any others should be discussed with your physician depending on your specific medical needs.
John J. Bissler, J. Christopher Kingswood, Elizabeth Radzikowska, Bernard A. Zonnenberg, Michael Frost, Elena Belousova, Matthias Sauter, Norio Nonomura, Susanne Brakemeier, Petrus J deVries, Vicky H. Whittemore, David Chen, Tarek Sahmoud, Gaurav Shah, Jeremie Lincy, David Lebwohl, Klemens Budde. “Everolimus for Angiomyolipoma associated Tuberous Sclerosis Complex or Sporadic Lymphangioleiomyomatosis”. www.thelancet.com, http://dx.doi.org/10.1016/S0140-6736(12)61767-X. Published on line January 11, 2013. Date accessed March 5, 2014.
“Tuberous Sclerosis Alliance”. http://www.tsalliance.org/pages.aspx?content=2. Published on line March 6, 2014. Date accessed March 5, 2014.
“Tuberous Sclerosis Center of Excellence”. http://www.lebonheur.org/our-services/neuroscience-institute/premier-programs-and-clinics/tuberous-sclerosis-cl… Published on March 3, 2014. Date accessed March 5, 2014.