Written by Thomas' mum, Amanda
Thomas's NF journey began at a young age. From before he was born through the early stages of infancy, I felt like there was something 'not right'. He was an unsettled baby, unhappy and challenging, a terrible sleeper and he disliked being laid down, even on the change table, but other than that, there were no other obvious symptoms, but deep down I just knew there was something I couldn't quite put my finger on. Mother’s instinct led me to many doctors and practitioners.
One day someone mentioned his café au lait spots and how they could potentially mean he has a condition called 'neurofibromatosis'. A word I had never heard before, but one I have learnt a hell of a lot about along the way. As well as the birthmarks, Thomas had developed a bit of a lazy eye. Not uncommon for children, but I kept pushing for an answer.
Through social media, I met an amazing mother of a young boy who also has NF and is in Darwin and she put me in touch with a doctor who not only understood NF but took my concerns seriously when all the others had not.
It took 14 months to find this GP, who referred us to an Ophthalmologist. We were so lucky that there happened to be a visiting Paediatric Ophthalmologist in Darwin from Sydney that same week, and she referred us for an MRI. Within one month we had an MRI and found Thomas had bilateral optic gliomas involving the optic chiasm and hypothalamus and pituitary glands.
Thomas was 15 months old when he was clinically diagnosed. I remember the phone call to say he had optic gliomas and how I felt a strange sense of relief. I knew there was something not right and there it finally was in black and white. Now I had to do everything in our power to give him the best chance at an amazing, normal life after this newly discovered diagnosis, as scary as it seemed.
We have a great Paediatrician although living in the Northern Territory unfortunately comes with the challenge of lack of resources and specialists, so we began seeing a Paediatric Neurosurgeon and Oncologist at the Women's and Children's Hospital in Adelaide. I also reached out to the Children's Tumour Foundation around this time, and they have been amazing at offering support, answering my questions, and pointing me in particular directions, in regards to contacts, resources, even NDIS funding.
From July 2021 Thomas had three-monthly MRIs to monitor the tumours. MRI days are a stressful time, not only for obvious reasons, but being so young he needs to be put under general anaesthetic. Full bloods are done at the same time to monitor hormones, which can potentially be affected also.
In July 2022, a routine MRI showed the tumours had caused a blockage to the ventricles in his brain and he required surgery to insert a shunt to drain the built-up fluid. We had to travel to Adelaide, and seeing my youngest baby go in for this surgery was a difficult experience. To our surprise, he came out of surgery amazingly well and was running around the Children's Ward the very next day. Back to his normal self.
Three months later, we travelled back to Adelaide for our first postoperative MRI and found that while the shunt was working, the other side of the ventricle was now blocked and he required a second shunt. He went back into surgery the very next day. This was so unexpected and such a shock but thankfully, once again, he bounced back and by the very next day, was nearly back to his normal self. With some pretty impressive scars on either side of his head to show for it.
Whilst the next few MRI’s remained relatively stable, his vision was always questionable, and his hormones levels were continuing to be elevated. He even started experiencing seizures. In December 2023 we travelled back to Adelaide for another MRI which showed fluid on the right side of his brain had built up once again. We were admitted that night and the setting of the shunt was changed to see if that resolved the issue. Unfortunately, it did not and he went in for another surgery the next day. It was found that the ventricular tube that sits inside the brain was blocked and needed to be replaced.
The invention of the shunt back in the 50's has saved many lives but the unfortunate thing is, it is still a mechanical device so of course has the risk of failure.
For Thomas having two shunts, we have double the risk. Thankfully, once again Thomas recovered from that operation remarkably well and quickly and has not had the hydrocephalus issue since.
Late December 2023, we travelled to Perth for a family Christmas and managed to get an appointment with a Neuro Oncologist at the Perth Children’s Hospital (PCH). Seeking a second opinion on Thomas’s situation, we were referred to Dr Nick.
We met Dr Nick on a Wednesday afternoon and were drawn to his incredibly friendly and caring nature. His genuine concern as well as vast experience was evident and his enthusiasm for his patients made us feel as though we were in the right hands.
The next day, I received a phone call. Dr Nick had been thinking more about Thomas and revisited his scans, bloods and reports and he believed he had shown enough progression to warrant starting treatment.
Knowing this has always been a possibility after each MRI, you try to prepare yourself and come to expect today might be the day you hear your child needs treatment. However, when that time does come, hearing those words still hits you like a tonne of bricks.
When you have to put your child’s future in the hands of a medical professional you need to be confident not only in them but the decision they make and we feel meeting Dr Nick and having him validate our concerns in regards to the NF progression Thomas was showing, was reassuring and that starting treatment was in fact what was in Thomas’s best interest. Instead of celebrating the New Year, we began preparing to start treatment. More consults with Oncology, ECG, Echo, blood test and changing flights yet again, Thomas started treatment on the 3rd of January 2024. Trametinib was the preferred choice for Thomas, it wouldn’t necessarily shrink the tumours, but it would stabilise where he was at in the hopes of preventing further damage to his eyesight.
Trametinib is a MEK Inhibitor. A relatively new medication it is an oral molecularly targeted therapy that works by blocking the pathway to prevent tumour growth. It does not kill the cells in the way traditional chemotherapy works therefore is not an immunosuppressant drug and has less severe side effects. Trametinib has been showing great potential in clinical trials and although is not yet approved in Australia (so needs to be obtained through the pharmaceutical company) we had hoped it was the best option for Thomas to continue living a relatively normal childhood.
One of the biggest side effects associated with this MEK Inhibitor is skin infections. Around the 3-week mark Thomas started showing signs of this with some issues, that looked a bit like school sores. At 6 weeks he suffered an allergic reaction, breaking out in hives all over his body. The decision was made to stop the treatment to get on top of this, not knowing if it was purely a reaction to the Trametinib or a combination of unfortunate circumstances – the sores becoming infected with staph and being back in Darwin with the extreme heat and humidity contributing to the itchiness which meant spreading of the skin infection.
We returned to PCH after a couple or weeks to ‘rechallenge’ him with the medication. This was done at the hospital in a way they hoped would desensitise him. Unfortunately, a few days in we suffered another unfortunate setback where he became unwell and was hospitalised with RSV so the treatment was postponed again to ensure we would not have an issue differentiating between the RSV or a possible allergic reaction. Once Thomas was free of fevers, we restarted the Trametinib again. It is only early days but we can only hope, third time lucky, we will see Thomas benefit from the treatment.
While our start to treatment has not been the smooth sailing we had hoped for, the care and support from PCH has been unwavering. From Oncology to Dermatology, even the Endocrine and Ophthalmology services have been wonderful and we are incredibly grateful to be given the opportunity to try this treatment for Thomas.
The uncertainty and unpredictability of Neurofibromatosis has caused many sleepless nights. It has been quite the rollercoaster so far, with Thomas suffering many complexities of NF and seeing as the condition is so variable, we don't know what his NF journey has in store for Thomas further down the track. Genetic testing has shown that Thomas did not inherit this condition, it was a spontaneous mutation of the gene and there is no way of telling what the future holds for him. Funding will always be needed to conduct highly important research, to help these children who suffer from this progressive condition.
Meanwhile, Thomas is a very typical 4-year old. He is wild and cheeky, very loving, and so sweet. He is energetic and smart and quite the character and to look at him you couldn't tell he has such a complex health condition or what he has gone through in his short little life. He was very excited to be starting Preschool this year, but unfortunately he has not been able to attend many days yet.
Advocating for Thomas has become a huge part of my life. I hope to bring awareness so other Mums and families know they are not alone, educating people about his condition and why he is the way he is and the huge importance of funding and research.
More effective treatments, clinical drug trials, all of this will be of benefit to Thomas in the future, not to mention the other 13,000 Australians living with the condition. The more research being done, means the more we can learn about NF and the more we can help Thomas to live his absolute best life, that's what is important to our family. He deserves the very best.