For the first year of her life, Macy suffered badly from ear infections and constant fevers. During one of our appointments with the GP, I 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 things.
She was around 18 months old at the time. I was surprised at how alarmed he was by this. Enough to send us to a paediatrician that afternoon who examined her closely and noticed some spots that I had always thought were birthmarks, but were in fact cafe-au-lait spots.
Her inability to walk or crawl very far was put down to low muscle tone and we walked out of his office with a diagnosis of Neurofibromatosis Type 1 (NF1) and instructions not to Google it.
A couple of weeks later she walked, but we continued to see the paediatrician and ophthalmologist regularly.
For the next 18 months, we saw very little change in her condition or signs of any of the symptoms we had been told to look for.
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?
Something didn’t feel right and things became progressively worse when Macy began to fall asleep in random places around the house home a few days later.
We could never have predicted how NF would tear our lives apart
I rushed her to the paediatrician and demanded someone examine her. The next thing I knew, an “urgent MRI for a suspected tumour” was organised for the next morning. Suddenly the frightening seriousness and reality of Neurofibromatosis became all too real. Within a week for Macy to be diagnosed with multiple Pilocytic Astrocytoma’s (brain tumours).
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, else risk her going blind or even becoming paralysed. And so, Macy’s chemotherapy journey began.
For two years Macy received chemotherapy and had an MRI every 6 weeks. During a break from chemo due to an allergic reaction, Macy had her annual ophthalmology check-up which revealed that her vision had declined significantly.
We were devastated. In 2014, she was diagnosed “legally blind” which signalled to the doctors that her tumours were no longer stable. After another two years of chemotherapy, it became clear that they were not responding to the treatment and at this stage, there was nothing else available.
Fortunately, Macy was included in a clinical trial at the Royal Children’s Hospital in Melbourne which was completed in March 2018. Following the treatment, Macy’s tumours were initially stable, but her following two MRIs showed worrying changes. Treatment with two different types of chemotherapy began again in September.
Treatment was going along smoothly until she suddenly developed an infection under her big toe nail, as well as pneumonia.
Initially, no connection was made between the infection and her treatment until a second toe became infected...and then a third. 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) could be removed at the same time. It would seem that she had no luck at all!
The central line snapped off inside her chest wall and travelled through her heart, into her lung and lodged itself in her pulmonary artery. Attempts were made to retrieve it without success and she was flown out of Hobart on an emergency flight to Melbourne for open heart surgery.
Fortunately the 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 which was scheduled for two weeks later.
It is hard to believe that another roadblock was thrown up in front of her, yet again. She developed a skin toxicity from the treatments she was receiving and became unable to fight off infections while still receiving her daily chemo. Her medical team decided on a 6 week break from any treatment was required to allow her body the chance to heal itself.
It has been seven years since her diagnosis, effective treatment options are limited and there is no cure.
She is now 10 years old, on a second clinical trial (accessing the MEK Inhibitor, Trametinib) and only 8 weeks into her new protocol. And yet, in spite of everything Macy is determined to return to school and take back some control. Sometimes it is just for an hour, but during that hour she can forget about treatments, surgeries and MRIs and just focus on 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!