Here are some basic facts about Tuberous Sclerosis...

• At least one child born each day will be affected with Tuberous Sclerosis(TS). Current estimates place TS-affected births at 1 in 5,800.
   
• Nearly one million people world-wide are known to have Tuberous Sclerosis.
   
• Tuberous Sclerosis effects can be mild to severe. Tumors can grow on any body organ, but most strike the brain, kidneys, heart, lungs and skin.
   
• Defects on two separate genes have been found to cause Tuberous Sclerosis. Only one of the genes needs to be affected for TS to be present. The defect in Chromosome 16 was discovered in December 1993. The defect in Chromosome 9 was discovered in August 1997.
   
• The TS genes 9 and 16 are believed to both act to suppress tumor growth in the body. When those genes are defective, tumors are not suppressed, and Tuberous Sclerosis results.
   
• Tuberous Sclerosis is genetically transmitted as an autosomal dominant disorder. This means that only one parent need have the gene and each child has a 50% chance of inheriting TS.
   
• Only one-third of Tuberous Sclerosis cases are, at this point, known to be genetically transmitted. The other two-thirds are believed to be a result of spontaneous mutation, with researchers believing the mutation occurs in individual sperm and egg cells prior to conception. The cause of these mutations is a mystery.
   
• A TS genetic diagnostic test is under development, estimated to be in place within one year.
  Diagnosis is currently made after MRI, CT Scan, ultrasound, echocardiogram, EKG, ophthalmoscope and Wood's Lamp evaluation. A recent study showed diagnosis takes an average 90 days with consultation of at least three specialists.
   
• The most common first symptoms of Tuberous Sclerosis are white spots and seizures, with up to 80% of TS-affected individuals experiencing seizures at some point in their life. Medication provides relief for some, but not all, TS individuals. Surgery provides improvement in frequency of seizures for some.
   
• TS is the largest known genetic cause of epilepsy. Seizures result from brain tubers or lesions (small patches in the brain that don't develop normally.)
   
• Tuberous Sclerosis is now the second largest identifiable genetic cause of autism.
   
• Tuberous Sclerosis' affects on the brain can also produce behavioral problems such as aggression, uncontrollable rage or hyperactivity in mild to severe forms.
   
• Tuberous Sclerosis can cause destruction of kidneys, lungs, heart or other organs affected.
   
• Some individuals develop malignant kidney tumors.
   
• Over 60% of individuals with Tuberous Sclerosis can not function independently.
   
• There are many undiagnosed cases of Tuberous Sclerosis. This is due to the obscurity of the disease and the mild form symptoms may take in some people. TS is as common as ALS (Lou Gehrig's Disease) but virtually unknown by the general population.
   
• People with mild cases of Tuberous Sclerosis can produce a child that is severely affected.
   
• Advancements in treatments are bringing new hope to those with TS. Surgery to remove tumors is helping to preserve kidney function and the function of other affected organs. Technology is developing to pinpoint the exact portions of the brain stimulating seizures. In some cases those portions can be surgically removed to relieve seizure frequency without impact on function or intelligence.
   
• TS research will assist in understanding cancer, epilepsy, autism and mental retardation.