'I remember the phone call letting me know, I felt a strange sense of relief'

When Amanda's toddler was diagnosed with a genetic condition that caused a brain tumour, she was grateful that the agonising uncertainty was over.   

Thomas's Neurofibromatosis journey started 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 changing table; 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 took me to many doctors, many specialists and even alternative practitioners.

One day someone mentioned his cafe 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. 

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'There it finally was in black and white'

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 understood NF very well.

It took 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.

May is Neurofibromatosis Awareness Month, and on May 17, Australian landmarks will light up blue and green in support of this amazing cause. To donate or find out more, click here. 

We have a great Paediatrician although living in the Northern Territory unfortunately comes with the challenge of lack of resources and specialists, so our Neurosurgeon and Oncologist are 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 regard to contacts, resources and 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. 

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'The uncertainty and unpredictability has caused many sleepless nights'

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. 

In February 2023, Thomas underwent his seventh MRI. The hydrocephalus (fluid on the brain) had resolved and the tumours were unchanged since November, so we can now go to six-monthly scans - an awesome result! 

We now face new challenges with Ophthalmology, which we also do every three months as he requires additional neurological testing for his vision. Again, we will be required to travel to Adelaide to utilise the WCH resources. 

Genetic testing has shown that Thomas did not inherit this condition. It was a spontaneous mutation of the gene and as I mentioned, we had never even heard of NF, most people haven't. 

The uncertainty and unpredictability of the condition has caused many sleepless nights. The condition is so variable, and we don't know what his NF journey has in store for him down the track.

'You couldn't tell what he has gone through'

On the other hand, Thomas is a very typical three-year-old. He is wild and cheeky, very loving, and so sweet. He is energetic and smart and quite the character and when looking at him, you couldn't tell he has such a complex health condition or what he has gone through in his short little life. 

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 and clinical drug trials will all be of benefit to Thomas in the future, not to mention the other 10,000 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.

Originally published as 'I remember the phone call letting me know, I felt a strange sense of relief'