My Givealittle page has closed now. Your generous donation is already helping Tuberous Sclerosis Complex New Zealand's efforts to help provide access to advice, care and medication for our community. Thank you!
Today is TSC Global Awareness Day and we join together with TSC organisations around the globe to raise awareness of Tuberous Sclerosis Complex.
Tuberous sclerosis complex (TSC) is a rare genetic disease that affects people at all stages of life. TSC causes tumors to grow in different organs and can impair their function, primarily the brain, heart, kidneys, skin, eyes and lungs. Changes in the brain caused by TSC can cause seizures and developmental delays, intellectual disabilities, behavioral challenges and autism. In fact, TSC is a leading genetic cause of epilepsy, including infantile spasms. A strong correlation also exists between TSC and autism—an estimated 40-50% of individuals with TSC have autism spectrum disorder.
Last night I was lucky enough to hear two great friends of the TSC community tell the story of how a 1960s soil sample on Easter Island evolved into an essential part of treatment for those with TSC, epilepsy, cancer and transplant patients.
Many people living with TSC are now prescribed everolimus or sirolimus, life changing medications. These drugs are derived from Rapamycin, an immunosuppressant isolated in the 70s from the bacterium found on Easter Island/Rapanui.
Dr Clara Chung (Clinical Geneticist) and Dr Denise Chan (Paediatric Neurologist) from Sydney Children's Hospital brilliantly used the comparatively short history of Rapamycin to tell us about its many current applications - and the trials for even more potential benefits in the future.
The ongoing advocacy required to get access for the TSC community to these types of medication is just one of the tasks of TSC organisations around the world.
Good news as we get set to celebrate Tuberous Sclerosis Complex Awareness Day on 15 May!
Find out more about what my colleagues and I are up to at TSC_NZ in our latest newsletter at https://mailchi.mp/c6633fe27fa1/tscnz-newsletter-apr2025
Thank you so much for supporting TSC NZ. Here's a quick guide to TSC
As we build to TSC Global Awareness Day 2025 on May 15th, here’s what we do…
💙 Provide email & phone support for TSC families
💙 Maintain the TSCNZ website & Facebook page
💙 Produce & distribute TSC Resources
💙 Hold conferences & seminars
💙 Advocate to improve access to best practice care
...to my 7 year old great nephew Jack Woodhouse. Who set off at a cracking pace as the sun rose, and kept going all day - a true inspiration to his stumbling, puffing great uncle. A great reminder that it often takes a whole family to overcome adversity. Find out more about TSC at tsc.org.nz
A big thank you to everyone who contributed to Tuberous Sclerosis Complex New Zealand. And gave the inspiration to climb Mt Maling on April 9.
Of course, there is a lot more work to do for the TSC community. We would be grateful if you continue to share the link https://givealittle.co.nz/fundraiser/support-tom-in-his-climb-for-tuberous-sclerosis as we build towards International TSC Day on May 15 🙏🏽🙂
