Tuberous Sclerosis (TS), what is it?

Tommy at the Fun Fair on a day out

Have you ever heard of Tuberous Sclerosis (TS)? Neither had my wife or I when our son Tommy was diagnosed with the disease at 6 months old. TS is a life sentence, it's a savage genetic disorder that strips its sufferers of a normal life. It gets its name from the tumours that grow and harden anywhere in the body. There is no cure. TS can affect anyone whether or not the parents carry the faulty genes.

TS affects around 1 in 7000 births. This means that TS is already more common than some of the conditions routinely tested for in pregnancy. Around 70% of babies are born to families with no medical history of the disease. Many other parents do not know they carry the disease- until it is too late. Even with mild symptoms, you still have a 50/50 chance of passing TS on to your children.

Brain tumours cause sufferers to have learning difficulties, limited speech, Epilepsy, Autism, and behavioural problems. Other tumours elsewhere in the body cause Heart problems, Renal disease and a disfiguring facial rash.

There is now hope

There is now some hope. In 1993 and 1997 scientists from Britain, Holland and America discovered the faulty genes that cause the problems, TSC1 and TSC2.
A drug isolated from a fungus found on Easter Island is now offering some hope to sufferers. The Tuberous Sclerosis association (TSA) are trying to raise £400,000 for a British trial of the drug on 30 adults. Half of that money is to be spent on the drug alone. The drug Rapamycin was discovered in the 70's and is used to stop organ transplant rejection could be the breakthrough TS sufferers are hoping for.

How is it caused?

The proteins from TSC1 and TSC2, link up to form a brake on a pathway that controls cell growth during development. When they are missing, cell growth continues unabated, forming tumours. The scientists discovered that the same pathway is also regulated by Rapamycin, via a protein called mTOR, suggesting that the drug could combat the growths.

How can you help?

Most TS sufferers, Parents and carers will tell you that understanding and awareness of the disease is what they hope for and Rapamycin has given new hope to these. Every little will help so get behind a charity event or visit the TSA website and become a friend.