National Tuberous Sclerosis Day is annually observed on May 15. This day is dedicated to bringing attention to Tuberous Sclerosis Complex (TSC). People diagnosed with T.S.C. or Bourneville-Pringle disease are frequently marginalised in society due to the disease’s rarity. But Tuberous Sclerosis International’s proactive public service efforts are assisting to eradicate the stigma associated with the disease. This national holiday seeks to combat social exclusion related to the T.S.C. and raise funds for medical research. It is of the uttermost importance to recognise that people with TSC are not disabled and have the same right to education and social activities as everyone else.
The background of National Tuberous Sclerosis Day
On the basis of pathological observations and clinical investigations, T.S.C. has existed for approximately 160 years, despite the general public’s ignorance. P.F.O. Rayer’s colour plate illustration of an individual with facial angiofibroma (benign tumours) brought the T.S.C. to the attention of the public for the first time. Later, the German pathologist Friedrich Daniel von Recklinghausen submitted a report on the death of a newborn infant caused by cardiac myomas (benign heart tumours) and cerebral sclerosis (Schilder’s disease). In 1880, however, French neurologist D.M. Bourneville diagnosed a patient with tuberous sclerosis based on the patient’s mental subnormality, hemiplegia, and epilepsy attacks.
At the beginning of the 20th century, more T.S.C. findings were reported as a result of a combination of increased research and advanced technology. In conjunction with dermal, renal, cerebral, and cardiac lesions consistent with facial angiofibromas and epilepsy, a clearer picture of the disease’s clinical manifestations was then observed.
Today, significantly more sophisticated advances in research have made T.S.C. a more manageable disease. Understanding how brain lesions are formed in patients, whether they are inherited, pathophysiological, or neuropathological, requires that scientists identify T.S.C. gene mutations. The diagnostic criteria for the disease can now diagnose the severity of the disease for each individual patient. A broad variety of treatments are currently available, which has nearly eliminated the option of undergoing tumour surgery.
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5 IMPORTANT FACTS ABOUT TUBEROUS SCLEROSIS
- An aberrant gene causes T.S.C.
- In several instances, the infant is the first member of the family to carry the abnormal gene.
- One in 6,000 births is affected by tuberous sclerosis, and two-thirds of affected infants have no familial history of the disease.
- Seizures, migraines, and other symptoms can be managed with medication, but there is no known cure for the disease.
- Because TSC is a genetic disorder, it cannot be prevented.
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