Welcome to our eNews for April 2024. In this issue:

• Are you ready to be a beacon of change for people living with TSC?
• Read the updated recommendations for TSC-associated epilepsy
• Heidi shares Asta's story 

Best wishes, Jackie Gambrell, CEO, TSA 

Thanks to everyone who came together for the great Community Connect event in Sydney on 23 March. A special shout out to our amazing Community speakers: Deb, Miia, Penny, Michelle and Jeremy, for sharing their powerful personal stories and to our incredible team of health care professionals for their expertise and time. And, thanks to AFT Pharmaceuticals and the Department of Social Services for their financial support!

Children living with TSC often experience seizures and many show early drug resistance. In 2018, experts published clinical recommendations for TSC-associated epilepsy management. Over the past few years, progress has been made in understanding the development of epilepsy, influencing changes in how treatment is approached and managed.

During mum Heidi's 24 week scan doctors discovered rhabdomyomas on her baby's heart. Asta was diagnosed with TSC, and in her short 7 years, she has encountered many health hurdles. At one time she had up to 40 uncontrollable seizures per day,

Asta has now had 2 brain surgeries for her TSC-related epilepsy and, thanks to that surgery, and continued anti-epileptic medicine, she now has seizure control.

Sydney Children’s Hospital in Randwick is recruiting for the TSC-STEPS research trial. The purpose of this ground-breaking research is to learn more about the safety and efficacy of early sirolimus treatment to prevent or delay seizure onset in infants diagnosed with TSC.  Infants 0 to 6 months old who are diagnosed with TSC and have no history of seizures may be eligible to participate.

TSA can offer some assistance with travel and accommodation costs for families outside of Sydney, including interstate families, who wish to participate in the trial.