Aussie mum Claudia Hobday opens up to Yahoo Lifestyle about her daughter Zoe’s journey with Neurofibromatosis, a genetic disorder that causes tumours to form on nerve tissue, bone, or skin, and the signs every parent should look out for. These are her words:
Growing up I had no idea I had NF1. I went my whole life not even knowing there was such a condition as Neurofibromatosis Type1, nor had I ever heard the words uttered until 8th May 2019.
Our story starts only a couple of weeks earlier on Zoe’s 4th birthday. After a day of celebrations, I had tucked the children into bed and looked through the photos I had taken that day. I noticed in every photo her left eye seemed crossed. I dismissed it and thought she was probably just excited and tired.
My husband Ben and I monitored her eyes over the next couple of days, then decided to make an appointment to have them tested. It was the Thursday before Easter and very late in the day. The first half of the appointment went well, but after a long day at daycare, Zoe was exhausted.
We decided it would be worth having her brother Arthur’s eyes tested too, so I made an appointment with the same optometrist after the long weekend. His eyes were perfect, but it was recommended Zoe see a paediatric ophthalmologist.
On May 8 2019, Zoe and I caught the train down from the Central Coast to Gordon for the appointment with the ophthalmologist. After hours of seemingly benign tests, I was completely unprepared for what was to come next.
'Straight to hospital'
We were advised to go straight to the Children’s Hospital for an MRI of Zoe’s head as she suspected something was pushing up against her eye. The ophthalmologist called the emergency department herself and handed me a referral with instructions to have Zoe start fasting.
I was frantic with the news I had just heard. Ben was in Melbourne for work but called his Mum to come drive us to the hospital and for his grandmother to collect Arthur from school. When we finally got to hospital, Zoe was seen by several doctors including the emergency department doctor, an eye doctor, neurologist and an oncologist. We were exhausted, hungry and thirsty.
At 8pm we were told they suspected Zoe has NF1 and that possibly, I have it too.
Zoe was admitted and an MRI scheduled for the following morning. Ben had flown back from Melbourne to meet us at the hospital in time to be told she had an Optic Pathway Glioma. The neurologist came back to see us the following day and diagnosed both Zoe and I with NF1 and suggested Arthur come and see him to be assessed too.
Just three weeks after her diagnosis, Zoe started chemotherapy as a second MRI showed that her OPG had already grown. There was no “watching and waiting”, just treatment.
As we started to learn more about the condition and its potential impact, some pieces of my own story started to fall into place. In 2017, I had discovered a lump in my left breast but was told it was nothing serious. In August 2019, another lump appeared in my right breast.
Considering my new NF diagnosis, I had a scan and two biopsies to check for malignancies. I was told that they were intraductal papilloma [develops in one or more of the milk ducts] and I had the lumps surgically removed.
In September 2019, Arthur was seen by the neurologist and has also since been clinically diagnosed with NF1. So far, he has not been seriously affected, but has been diagnosed with ADHD.
In March 2020, I felt another lump in my left breast, but after having both breasts scanned, discovered another in my right too. Once again these were biopsied, and I was told that they were intraductal papilloma. The following month I had them surgically removed as a precaution.
While this was happening, Zoe completed her chemotherapy treatment, and her port was finally removed. We are now monitoring Zoe with regular MRIs and eye appointments every three months.
Every day we learn new things about NF. What was initially quite overwhelming has simply become a part of who we are now, but that does not mean we are not vigilant of how quickly things can change.
As a family we are learning and evolving. We know that even though we have NF1 we will not let it define who we are, it is simply just a part of who we are.
As told to Kristine Tarbert.
May is Neurofibromatosis (NF) Awareness Month
NF refers to a set of three genetic conditions that cause tumours to form on nerves in the body, including the brain and spine. Progressive and unpredictable, it can cause cancer, blindness and deafness, as well as bone abnormalities, learning difficulties, chronic pain and visible skin tumours.
Despite being one of the most common genetic neurological conditions, awareness of NF is low, often misdiagnosed or dismissed, even amongst medical professionals.
For the 1 in 2,500 Aussies living with the condition this can make the path to diagnosis long and complicated and can cause intense emotional turmoil for families, irreversible damage to a person’s health, and in some circumstances, can be life-threatening. More information at Children's Tumour Foundation.
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