What is Tuberous Sclerosis?
One baby is born every week in Australia with Tuberous Sclerosis Complex (TSC).
TSC is a serious and potentially life threatening rare condition affecting more than 2000 individuals in Australia and thousands more carers, families and friends who live with the impact of the disease. TSC tumours can grow in any organ of the body, commonly affecting the brain, skin, heart, lungs and kidneys. TSC can cause epilepsy, developmental delay and autism. There is no known cure.
Why is the TSC Information Service essential?
TSC is complex and treating GP's & specialists may not have seen it since medical school. This often leaves patients and families confused and overwhelmed by a new diagnosis or when new problems arise. This is where TSC Information service is vital. The phone line, available 7 days a week, provides callers with resources and support families getting through the tough times.The team also responds to emails and contact through social media.
Most cases of TSC come with no family history. Imagine it is you who discovers your child, your partner, or even yourself has a potentially life threatening disease.
A TSC family story: How the TSC Information Service saved Matt's kidneys.
My husband Matt, at the age of 43, was diagnosed with Tuberous Sclerosis Complex. A failed work medical lead to a series of tests, one of which showed a lot of shadows across both Matt’s kidneys.
Suddenly, we had a diagnosis we had never heard of: Tuberous Sclerosis Complex.
We didn’t know what to do. After some time on google, I discovered Tuberous Sclerosis Australia and the TSC Information Service. I called the phone number and talked to Clare Pinkerton Stuart. Clare took the time to get to know my family’s situation. Clare gave me vital information about TSC, including what might happen next for us. Being able to speak to someone who knew what I was going through relieved my anxiety – after all, we weren’t just facing Matt’s diagnosis, with two beautiful children we now needed to consider their future and if they had also been affected by this rare genetic condition.
One of Matt’s tests was a biopsy of two of the ten tumours on his kidneys. He was given a diagnosis of Chromophobe Renal Cell Carcinoma (a type of kidney cancer) in both his kidneys. We were facing the total removal of his left kidney and an invasive treatment called radio frequency ablation on his right kidney. Our kidney specialists told us that dialysis wasn’t a matter of if, but when. We went home, researched dialysis, and we were petrified.
The TSC Information service came to our rescue again. I spoke with Clare who let us know that cancer is often misdiagnosed in TSC patients. She encouraged us to seek a second opinion. Clare introduced us to a world leading expert on TSC. This doctor organised access to Matt’s test results and set up a teleconference with us right in our own lounge room. He broke the news to us that what he was seeing was normal for TSC patients and that surgery was not needed! I cannot describe the relief Matt and I felt. It was being able to pick up the phone and get accurate and up to date information about TSC that allowed this to happen.
Matt started on TSC medication in January under the recommendation of the Doctor we were referred to by TSA Information Service. In May, his test results blew us all away. All of his tumours were reducing. Everyone’s relief when the doctors compared the measurements from previous scans could be felt in the room. Matt’s surgeon was an amazing advocate for us in seeking the second opinion and the relief that he hadn’t cut Matt’s kidneys out was clear.
We can not thank the TSC Information Service enough for saving my husbands life. I urge you to support this service in whatever way you can - Matt and Cynara Stalenhoef
Become a TSC Hero
The TSC Information Service receives no government funding and relies on the generous support of people like you. For every donation over $100 we will also say thank you by sending you a TSC Heroes Sports T-shirt in your size.