The Australasian Tuberous Sclerosis Society

Joshua has TSC. He is now almost 16 months old and is our second child. His older brother, Nicholas is almost 4 years old.

Initial Diagnosis

Joshua was officially diagnosed when he was seven weeks old after he started having seizures. However we knew that he was likely to get his diagnosis when he was about 5 days old as one of the nurses in the maternity hospital had detected an irregular heart beat.

This led to an ECG and then an echocardiogram which found that Joshua had multiple cardiac rhabdomyomas. He was also found to have a single cyst in one of his kidneys. When Joshua had his MRI at seven weeks of age, he was found to have multiple tubers on his brain.

Making Progress

Recent monitoring of Joshua has found that some of the rhabdomyomas in his heart have started to reduce in size. However he now has several cysts on his kidneys and in the last few months some white patches have appeared on his stomach and lower legs.

Despite the multiple tubers in his brain and the early onset of his seizures, Joshua is doing really well. He crawls and has started to walk while holding onto a trolley or ride on car. We moved to our new house just before Christmas and he can also climb the 16 steps to get upstairs. He has started to talk and currently has about 10 words.

He is a very happy and sociable little boy and loves to be with people. We are very excited about his progress.

Joshua is quite a busy little boy. We attend regular physio and occupational therapy and occasionally speech pathology sessions in addition to all the medical appointments that are necessary. He also participates in baby swimming classes and Gymbaroo every week.

Getting Support

After Joshua was born, we spent a lot of time on the internet trying to find out as much as we could about Tuberous Sclerosis. Even in my work as a speech pathologist working with children, I couldn't remember ever working with a child with TS so we had a lot to learn.

I contacted Leanne and then Sue at ATSS and was given a lot of support and information which was so important at that early stage. I also attended the ATSS Annual Conference in August last year which gave me the opportunity to learn more about TS but also to talk to other parents and share their stories and experiences.

Although we left the maternity hospital feeling devastated as were the rest of our family, we are now much more positive about Joshua's future.