For the first year of her life, Macy suffered badly from ear infections and constant fevers. During one of our appointments with the GP, we mentioned in passing that she did not seem interested in walking, which I had initially put down to the fact that her older sister was more than happy to bring her anything she wanted.
She was around 18 months old at the time and I was surprised at how alarmed he was by this. Enough to send us to a paediatrician that afternoon who examined her very closely. He noticed some spots that I had always thought were birthmarks but were in fact cafe-au-lait marks.
Her inability to walk or crawl very far was put down to low muscle tone and we left his office with a diagnosis of Neurofibromatosis Type 1 (NF1) and strict instructions not to consult "Dr Google" about it.
A few weeks later she walked, but we continued to see the paediatrician, as well as an ophthalmologist regularly.
For the next 18 months, we saw very little change in her condition. She was just a regular, active two-year-old.
On her third birthday, Macy broke her left arm, but when the cast came off, I noticed that she hadn’t started to use it again.
She was referred to an orthopaedic surgeon who suggested that her gross motor development could be signs of Cerebral Palsy. I was shocked, how does a healthy three-year-old go from a broken arm to having Cerebral Palsy? We booked the next available appointment with her paediatrician, but that was not soon enough.
Over the next few days, something didn’t feel right. As a swaddled baby who never fell asleep on the floor while playing with her toys, I became highly alarmed when she started falling asleep in random places around the house. The temptation not to Google NF became too much, and I was shocked by what I read.
We could never have predicted how NF would tear our lives apart
I called the paediatrician and told the receptionist I was on my way there to demand someone see her immediately. She was booked in the next morning for an “urgent MRI for a suspected tumour.” Suddenly the frightening seriousness and reality of NF1 became all too real. Within the week, Macy was diagnosed with cancer. She had multiple Pilocytic Astrocytoma’s (brain tumours) as a result of her NF.
At just three years of age, Macy had lost partial mobility down the left side of her body and was scheduled to have brain surgery. We were terrified.
Unfortunately, one tumour in particular could not be completely removed, only de-bulked. The risk of her going blind or even becoming paralysed was too great. Our only other option at that point was chemotherapy.
For two years Macy received IV chemotherapy and had an MRI every 6 weeks. After an allergic reaction, her oncology team recommended taking a break from chemo, which coincided with her annual ophthalmology appointment. The results were not promising, her vision had declined significantly.
We were devastated. In 2014, she was diagnosed “legally blind” which signalled to her doctors that her tumours were no longer stable. After another two years of chemotherapy, it became clear that her tumours were not responding to the treatment. At this stage, after trying various different chemotherapy treatments, there was nothing else available. We were left to "watch and wait".
Hearing those words broke my heart. Fortunately, Macy qualified to be part of an international clinical trial through the Royal Children’s Hospital in Melbourne, which extended for two years. Her treatment with the MEK Inhibitor Trametinib finished in March 2018 and her tumours were initially stable. We were thrilled, but her next MRI showed worrying changes. Treatment with two different types of chemotherapy drugs began again in September.
Treatment seemed to be going along smoothly until she suddenly developed pneumonia and an infection under her big toenail.
Initially, no connection was made between the infection and her treatment until a second toe became infected...and then a third and fourth. She was scheduled for surgery the following week.
It was at this point that her oncology team decided her port (where the IV for chemo is infused into her bloodstream) should be removed. It had been there for seven years and her chemo was now taken orally, so it was no longer needed.
Routine surgery quickly turned into major surgery after the central line snapped off inside her chest wall and travelled through her heart, into her lung and lodged itself in her pulmonary artery.
Many attempts were made to retrieve it without success, so she was flown out of Hobart on an emergency flight to Melbourne for open-heart surgery. It seemed Macy had no luck at all.
Fortunately, a cardiologist in Melbourne was able to retrieve the 4 cm central line by another incision in her groin, narrowly avoiding another major operation. Unfortunately, she still needed surgery on her toes and was flown back to Royal Hobart Hospital for the operation she was initially booked in to have.
Still on her daily chemo, she developed a skin toxicity from the treatment and became unable to fight off infections. With yet another roadblock in her way, the decision was made to give her a break from any treatment to give her body the chance to heal itself.
It has been eight years since her diagnosis, effective treatment options are limited and there is no cure.
She is now 11 years old, two years into a second clinical trial (accessing the MEK Inhibitor, Trametinib) and her tumours are stable. Finally.
She fatigues very quickly but is attending school on most days. She is determined to take back some control and enjoy just being a kid.
So much of Macy’s childhood was taken from her because of Neurofibromatosis…but we are still hopeful and we are still fighting!