By Miia Groenewald, Oskar’s mum (NSW, December 2019)

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We first heard the terrifying words Tuberous Sclerosis Complex (TSC) during our 32-week scan when cardiac rhabdomyomas (tumours on our unborn baby’s heart) were spotted. Our perfectly easy conception and pregnancy came to a crashing halt. Within a few whirlwind days, we had seen a cardiologist and a genetic counsellor who confirmed our baby had an 80% chance of having a devastating rare disease, TSC.

Genetic testing confirmed our newborn baby, Oskar had TSC2.  It was a random spontaneous gene mutation.  Neither of us has the gene and there is no history in our family of TSC.

TSC has impacted every aspect of our life. Our world has been turned upside down. But just knowing TSA is there helps us feel less alone.

When our neurologist, Dr John Lawson, recommended we get in touch with TSA we knew we could trust them. Having access to the information on TSA’s website, and the stories of what life with TSC is like for others really gave us hope and comfort.

Oscar EEG

In the early days we felt so fortunate.  Oskar only had one seizure at about 6 months old and the very next day he was started on Sabril which stopped his seizures for 2 years.

Despite the shock of seeing our baby boy have an infantile spasm, we felt fortunate to have the expert team at Sydney Children’s Hospital on hand to quickly respond to Oskar’s TSC symptoms. The doctors and nurses are all incredibly knowledgeable and helpful. I don’t know what we would have done without them. We feel confident the early diagnosis and intervention Oskar received has helped him have the very best start to life with TSC.

Unfortunately, after 2 years of being seizure free, things took a turn for the worse. Oskar began having more and more seizures and despite trying 15 different treatments we cannot get good seizure control. He is now having up to 8 seizures every day. His little brother, Archer who is 20 months younger, already knows how to pick when Oskar is about to have a seizure and runs to tell us. It’s pretty frightening for everyone.

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While Oskar has a global developmental delay, he is doing really well.  Although Archer has now overtaken him in most areas, he is still not as tall as his big brother!  Archer’s abilities also help encourage Oskar to keep up with him. We can see this brotherly competitiveness is going to be a very good thing for Oskar’s ongoing development.

Oskar now goes to kindy 3 days each week and loves it. He is starting to string words together, but then he has a seizure and it wipes his brain and we have to start over. We see speech therapists and occupational therapists which helps rebuild his vocabulary and gross motor skills.

A recent EEG showed a tuber on Oskar’s right frontal lobe is kicking off his seizure activity.   Brain surgery may be our only option to stop the seizures.

We feel incredibly scared.  Life with TSC is so unpredictable. Just when you think things are going along well, seizures kick off again and you don’t know what lies ahead.

We are moving ahead with testing next year to see if surgery will help Oskar. We feel good knowing we have a plan but it will take a lot of time and patience before we know if this is the right option.

Our Oskar is a loving, caring and affectionate boy and while we can see stark difference in his development when he is playing with kids his own age, he is learning new skills and enjoying life.

We know we are the right parents to have a child with TSC. We won’t give up. We will fight for him to make sure he has the chance to live the best possible life.

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