40 Miles to celebrate 40 years of tsa


brief outline of TSC history

• In 1835-1850 doctors first recognised the skin complaints caused by tuberous sclerosis

• in 1880 Bourneville characterized the disease and called it tuberous sclerosis Complex. The name, composed of the Latin tuber (swelling) and the Greek skleros (hard), refers to the pathological finding of thick, firm, and pale areas found in the cerebral cortex which they called “tubers”, these were found in patients with TSC on post mortem and the Complex is because the disease manifests outside of the brain and throughout body organs.

• Tuberous sclerosis association founded in 1977 before that there was no information available on the disease and so families decided that they would start a support group

• In 1979 Gomez first described TSC as it is known today Tuberous sclerosis complex is a rare genetic multisystem disease that causes noncancerous growths throughout body organs such as brain kidneys heart lungs skin it cause a multitude of symptoms including epilepsy autism behavioural problems developmental delay ADHD lung and kidney disease.

• The advances in technology with the invention of ultra sound MRI and CT scans improved diagnosis and knowledge of disease process

• 1993 genes causing TSC identified on chromosomes TSC is caused by a mutation of either of two genes, TSC1 (hamartin) and TSC2 (Tuberin), which code for the proteins. These proteins act as tumor growth suppressers agents that regulate cell proliferation and differentiation. When these pathways do not shut off as in TSC the proteins continue to make cells causing the growths seen in TSC

• In 2002, treatment with Rapamycin was found to be effective at shrinking tumors’ in animals. This has led to human trials of rapamycin as a drug to treat several of the tumors associated with TSC

• 2014 Everolimus (form of Rapamycin was trialed and found to have good out comes in TSC patients trials EXIST1,2,3
• This treatment works on the mTor pathway and is thought to help turn these pathways on and off to regulate the amount of proteins synthesized (in TSC this pathway remains open and causes abnormal synthesis of the proteins that regulate the cells

• In 2016 Everolimus was approved by NICE for use in TSC kidney related complaints (angiomyolipoma) and in TSC related brain tumors’Subependymal giant cell astrocytomas) (SAGA) after the fight for justice was launched and 17,142 signed a petition for its use

• Today the association holds regional and national events and has an international conference to support families research and developments in the disease process in which they help to put clinical guidelines in place to finding out the cause of the disease and now they are helping research to look at treatments in to the disease through out there time as a charity they have been a great support to families who face this horrible disease and from starting from humble beginnings of just a couple of families to now supporting families throughout the uk with this rare genetic condition (see impact report) The charity now help to educate professionals about the disease to encourage earlier diagnosis, lobby MPs in the fight 4 treatment campaign in trying to secure funding from NHS England for treatments that help reduce the impact on the disease. They work with genetic alliance and other organisations to help the plight of the families and putting documentation in place regarding the diagnosis criteria for the disease and disease pathways to ensure that treatment is given accordingly throughout the UK. They have advisers to help families and have online forums and regular events to support families.

About Sue Sambells

Editor of Bramcote Today. Trustee of Nottinghamshire Neighbourhood Watch. Lead Coordinator for RVR, Bramcote - Neighbourhood Watch Scheme
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