National Tuberous Sclerosis Day is observed on May 15 every year. This day is dedicated to raising awareness of Tuberous Sclerosis Complex (T.S.C.). Because it is such a rare form of disease, people diagnosed with T.S.C. or Bourneville-Pringle disease are often marginalized in society. But thanks to the proactive public service efforts of Tuberous Sclerosis International, they are helping to eradicate the stigma associated with the illness. This national holiday aims to fight T.S.C.-related social exclusion and raise funds for medical research. It is of the utmost importance to understand that people with T.S.C. are not disabled and are as entitled to education and social activities as anybody else.
History of National Tuberous Sclerosis Day
While the general public knows little about T.S.C., the disease has existed for about 160 years based on pathological observations and clinical studies. T.S.C. first gained public attention with P.F.O. Rayer’s color plate drawing of a person with facial angiofibroma (benign tumors). Later on, German pathologist Friedrich Daniel von Recklinghausen submitted a report of a newborn baby’s death due to cardiac myomas (benign heart tumors) and cerebral sclerosis (Schilder’s disease). However, it wasn’t until 1880 when the disease was specified as the illness we know today when French neurologist D.M. Bourneville diagnosed a patient with tuberous sclerosis after findings of mental subnormality, hemiplegia, and seizure attacks.
As more studies were paired with advanced technology, more findings on T.S.C. were reported at the beginning of the 20th century. A clearer clinical picture of the disease was then observed, associated with dermal, renal, cerebral, and cardiac lesions consistent with facial angiofibromas and epilepsy.
Today, far more advanced developments in studies have been obtained, making T.S.C. a more manageable disease. Scientists identifying the T.S.C. gene mutations are paramount in understanding how brain lesions in patients are formed, whether hereditary, pathophysiological, or neuropathological. The diagnostic criteria for the disease are now specific in diagnosing the severity of the disease per patient. A wide range of treatments is now available, which almost completely replaced the option to undergo tumor surgery.
National Tuberous Sclerosis Day timeline
Van Recklinghausen records the cerebral involvement from a newborn baby’s autopsy, where he finds cardio myomata and sclerotic brain lesions.
Van der Hoeve first associates T.S.C. with neurofibromatosis, where the clinical name ‘phakomatosis’ is introduced.
Despite the stigma of mental subnormality, neurologists J.C. Lagos and Manuel Rodriguez Gomez find that 38% of patients with T.S.C. have normal intelligence based on 71 cases.
After a century of research, scientists and medical professionals discover rapamycin, an oral medicinal treatment that shrinks tumors.
National Tuberous Sclerosis Day FAQs
How long can a person with T.S.C. live?
There have not been adequate studies to support the specific lifespan of patients living with T.S.C. However, many patients seem to have a normal lifespan.
What are the signs and symptoms of T.S.C.?
Common symptoms of T.S.C. include seizures, white patches, lumps, and bumps on the skin.
How is tuberous sclerosis diagnosed?
Doctors perform M.R.I., C.T. scans, and genetic tests to diagnose a patient properly.
How to Observe National Tuberous Sclerosis Day
Support T.S.C. Global Awareness Day
The main point of this national holiday is to provide visibility to T.S.C. patients and eradicate the existing stigma associated with the disease globally. By supporting National Tuberous Sclerosis Day and T.S.C. Global Awareness Day, you contribute a small effort that yields big changes.
Contact your local T.S.C. organization
T.S.C. organizations conduct local events and campaigns on May 15 every year. Make sure to contact your local T.S.C. organization and get information on how you can participate in parades, symposiums, and fundraisers.
Take it to social media
Social media platforms are powerful tools for raising awareness for specific causes. On May 15, download the T.S.C. Global Awareness Day coloring flyers from the T.S.C. international website, take a selfie with your flyer, post it on social media, and make sure to use the hashtags #TSCGlobalDay and #United4TSC.
5 Important Facts About Tuberous Sclerosis
T.S.C. is a genetic mutation
An abnormal gene causes T.S.C.
Tuberous sclerosis is not always hereditary
There are several cases where the baby is the first person in the family to have that abnormal gene.
As common as A.L.S. and cystic fibrosis
Tuberous sclerosis affects one in 6,000 births, and two-thirds of diagnosed babies have no family history of the illness.
T.S.C. has no current cure
Drugs can treat seizures, ease headaches, and manage other symptoms, but there is no known treatment to cure the disease completely.
T.S.C. has no prevention treatment
T.S.C. is a genetic disorder, therefore, cannot be prevented.
Why National Tuberous Sclerosis Day is Important
It encourages fundraising for research
Organizations that observe National Tuberous Sclerosis Day create awareness and drive fundraising events. The events’ proceeds go to developing programs and resource information to help medical professionals and scientists further advance their research in finding a cure for the disease.
The day allows patients with T.S.C. to be seen
Observing this national holiday allows persons living with T.S.C. to be seen and heard. Many support groups are dedicated to counseling both patients and family members. The continuous observance of this holiday makes these groups expand and reach a larger demographic, making counseling accessible to many people.
It builds connections with other families
Having a community with fellow families impacted by T.S.C. is integral for a morale boost and healthcare connections. Sharing information and access to medical experts is paramount in ensuring a comfortable life for the patients.
National Tuberous Sclerosis Day dates