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By Samantha Smith, Isabel’s mum (Central West NSW, February 2023)

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Almost 5 years ago, we were looking forward to all the milestones first-time parents expect to enjoy with our new baby girl, Isabel. However, our daughter’s life in those early days was very different to what we’d been expecting.

We started to notice our beautiful daughter blinked a lot, sometimes for up to 20 seconds. Whilst we were assured by our GP that this was normal, my motherly instincts told me that this just wasn’t right.

After 6 months of investigations and many medical tests and appointments, Isabel was diagnosed with TSC (Tuberous Sclerosis Complex) just before her first birthday.  

This was shocking and devastating news to us. We had never heard of TSC and had no known family members with this genetic condition. Even our paediatrician had never heard of TSC before and admitted he had to google it. He advised us not to do the same, as he had found that many articles were outdated and very distressing to read. Thankfully he gave us great advice and suggested we go to the TSA website. He told us that it provided accurate, up-to-date information. We are glad we took his advice and, from there, we connected with the wonderful team at TSA. 

The impacts of TSC on her behaviour and learning are some of the most difficult symptoms of TSC for our family to manage at the moment
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Isabel started school this year. We’ve been a bit nervous about sending her off to kindergarten because her epilepsy is not under control. Despite trying many different medicines, she is having at least 8 seizures every month. We know this could make it a very challenging transition for her but, so far, she is adjusting well. We have an epilepsy action plan in place at the school, so the teachers know what to do if she has a seizure while she is there.

Recently, Isabel was diagnosed with autism. We feel uncertain of what the future may bring in terms of her development. The impacts of TSC on her behaviour and learning are some of the most difficult symptoms of TSC for our family to manage at the moment. It’s been really important for us that Isabel’s educators are aware of these challenges. We’ve found the ‘In Safe Hands’ educational resources for schools that TSA has developed incredibly helpful for both us and Isabel’s teachers.

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We have learned so much about navigating life with TSC thanks to TSA and their excellent resources. I honestly don’t know what we’d do without them! We feel incredibly grateful too for TSA’s advocacy work, fighting for better treatments and more research that, hopefully, one day will lead to a cure.

We don’t know if TSC will cause any other neurological disorders or health issues for our little girl, but we believe she can achieve anything she wants to in life. We are determined that her disability will not stop her. We know that, with support from TSA, we are in a good position to navigate whatever may lay ahead.  

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