Alex's Story
When Something Didn't Feel Right...
From a young age, we knew something wasn’t quite right for Alex. His speech milestones were on track, but he didn’t walk until 20 months. From around one year old, he had freckling and café-au-lait spots. We raised these with our doctor at the time and were told they were nothing to worry about.
By age four, Alex was seeing a physiotherapist for low muscle tone. Then, around six or seven, he began complaining of pain in his jaw. We saw multiple health professionals trying to find the cause and ease his discomfort, but nothing helped. A dentist noticed something unusual on an x-ray and referred us on, but after repeated GP visits with no clear answers, we were left with a choice: an MRI or a referral to a maxillofacial surgeon.
The surgeon felt an MRI would be too much for Alex at his age. She suspected the issue might be linked to a small, previously undetected fracture and decided to monitor it. Alex still had pain, but only when the area was touched, so we trusted the doctors and carried on.
A Casual Comment That Changed Everything
When Alex was nine to ten, he went through precocious puberty. Not long after turning ten, he became unwell with what we thought was a vomiting virus. By this point, we had started seeing a new doctor. During the appointment, as Alex lifted his shirt so the doctor could examine his stomach, the doctor noticed his freckling and café-au-lait spots.
Almost casually, he mentioned that Alex might have NF1, but his focus that day was on what was causing the vomiting. I went home and Googled NF1 and, like any parent, completely panicked.
Over the next few days, Alex’s condition worsened. By day four, he could barely move, and when he did try to walk, he was bumping into doors and walls. When I rang the doctor again, he told us to go straight to emergency. That was the day our lives changed forever.
Alex was diagnosed that afternoon with NF1. We were told he had a tumour in his brain stem that was causing hydrocephalus and that he needed emergency surgery that night to insert a shunt to relieve the pressure on his brain.
We then learned there was more. Alex also had an optic pathway glioma, a plexiform neurofibroma in his jaw, and another small tumour in his brain that doctors still aren’t sure about. Four tumours in total.
The following six weeks were agonising. Alex needed surgery to debulk the brain stem tumour, but because of its location and the risk of severe damage, it was difficult to find a neurosurgeon willing to operate. If they went ahead, there was a real chance Alex might never walk or talk properly again. If they didn’t, he might not survive.
Eventually, an incredible surgeon agreed to take on the surgery and was able to remove 80 per cent of the tumour.
“If they operated, there was a chance Alex might never walk or talk properly again. If they didn’t, he might die.”
Life After Diagnosis
Since then, Alex’s life has been filled with appointments. These days, we are ‘down to’ six-monthly check-ups including MRIs, ophthalmology, oncology and visits with a maxillofacial surgeon. Everything is currently stable, and we are deeply grateful for that.
Despite everything, Alex has managed to live a fairly normal life. The constant appointments take their toll, and he does struggle socially with peers his own age, but older people seem to gravitate towards him. He has also been diagnosed with ADHD, and since starting medication, his overall daily health and wellbeing have improved.
Alex has recently graduated from school, an achievement we weren’t always sure would be possible when he was younger. He is now enrolled in a Diploma of Music at TAFE. To say we are proud of what he has overcome would be an understatement. He has faced every challenge with a smile, and plenty of bad jokes along the way.
Alex is an inspiration to everyone lucky enough to cross his path.
“When Alex was first diagnosed with NF1, it was completely terrifying. I called the Children’s Tumour Foundation and they were amazing. After talking for 40 minutes, I felt like we didn’t have to carry this burden alone anymore. I knew there would always be someone just a phone call away to help me navigate this journey.” - Angela, Alex's Mum
Stepping Up Again
Last year Alex's Mum, Angela, participated in Step Up for NF, raising over $2,000. “I love Step Up because it’s a great way to start conversations. Those conversations help raise awareness and funds for children and adults alike who are living with NF.”
And she is gearing up to do I all again this March - thank you Angela and Alex for supporting CTF by sharing your story and stepping up!
Share this story