Based on an interview with Chris Pollard, Olivia’s dad (NSW, September 2023)
Olivia, fondly known as Livy, is 11 years old and lives in Newcastle NSW. Olivia is in Year 6 and was recently diagnosed with TSC (Tuberous Sclerosis Complex).
About 2 years ago Olivia noticed some unusual bumps on her face which made her feel quite self-conscious. The local family GP didn’t know what they were and referred her to a dermatologist for further investigations. Right away, the dermatologist knew that the lumps on Olivia’s face were angiofibromas and told Chris that it was very likely Olivia had a rare genetic disease called TSC.
This news came as such a shock to Chris as Olivia had always been so healthy and happy. Also, Chris had worked in health care as an emergency intensive care nurse and paramedic for nearly 20 years but had never heard of TSC.
Chris says the diagnosis was a terrible process: ‘The dermatologist shared this shattering news in such a matter-of-fact way, without providing any information on the disease, what it meant for Livy or what would happen next. I was just told to go and get a special cream that would help with the bumps and referred back to our GP. There was no good case scenario here. All the information provided was doom and gloom and we were left to read the worst case scenarios online. If only we had been introduced to TSA at that time, the new diagnosis parachute pack resource would have helped so much. I now know where to go for balanced information on TSC and I wish we had been given this information that day at the dermatologists. I was left feeling helpless as a parent because I didn’t know what to do for my child. It was dreadful being on the other side. I was used to taking care of patients and now I didn’t know what I was supposed to do to take care of my own daughter.’
If only we had known about TSA and had their support at the time of our TSC diagnosis, we could have been spared so much energy worrying about all the frightening possibilities that we came across online. We could have focused on being present and showing our daughter that the only thing that matters is that we will do it together no matter what lies ahead. We are sharing our story to highlight that there is a huge spectrum of severity with TSC. Our daughter Olivia is living a very normal healthy life. She hasn’t let her diagnosis stop her
from doing all the things she loves, like playing basketball, riding motorbikes, hanging out with her friends and playing with her dog, Jeff the chocolate Labrador.’
When the family returned to visit their GP, they found their doctor had never heard of TSC either. What followed was a series of specialist appointments and tests, none of which were easy to access. ‘I had just been told our daughter had a very complex rare disease but we were going to have to wait 8 to 12 months for an MRI or to see an expert in TSC to know for sure. It was a frustrating experience not being able to easily access the tests I knew my daughter urgently needed.’
Chris became Oliva’s very vocal advocate and used his experience working in health and hospitals to ‘make some noise’. It worked and within 8 weeks Olivia had a brain MRI, kidney CT scans, genetic blood tests and an appointment with the experts at Sydney Children’s Hospital (SCH) in Randwick.
‘Once we were seen by the multidisciplinary TSC clinic team at SCH, we knew we were in the right place to get the care we needed. We were finally given the right dose of the miracle cream Sirolimus and, thankfully, Livy’s facial angiofibromas have now virtually disappeared.’
Genetic testing showed that Olivia has mosaic TSC and neither Chris nor Livy’s mum Melissa has the disease. The scans showed that Olivia has TSC tumours on her brain and kidneys, although right now they are not causing any significant health issues. ‘We are incredibly thankful that it looks as though Livy is mildly impacted by TSC at the moment, although she does have some learning difficulties which we now know are likely due to the jellybean-sized tumour in her brain. We will keep a close eye on her brain and kidney tumours with annual checkups and surveillance.’
Just recently Olivia needed an urgent review. Thanks to the team at the TSC Clinic in Sydney and in particular the Clinical Nurse Specialists, Josie and Eleanor, this has now taken place. Chris says that, as a parent and a health care professional, he understands the frustration of dealing with a rare disease and navigating the health care system. He encourages other parents to do what he has done and keep loudly and proudly advocating for their child.