Alexandra's Story
As the mother of two girls, I have my hands full. They have such wonderful, yet different personalities, but the thing that separates them the most is that my youngest, Alexandra who is now 6 (Alex) was born with neurofibromatosis type 1 (NF1). A condition, I have lived with my entire life too.
Passed down from my father, I was aware from a relatively young age that I had NF1. I had the characteristic café-au-lait spots and some learning difficulties, but it was the plexiform neurofibromas on my neck, shoulder and back that have caused the most pain and concern well into adulthood. Tumours I know to keep a very close eye on, as they have the most potential to become malignant.
I married my husband, Ivan when I was 29 and we had our first daughter Georgie a few years later.
Knowing there is a 50 per cent chance of passing the NF gene to any children, we were relieved that she showed no signs of the condition.
Almost six years later, we welcomed another little girl – Alex. She was born at 30 weeks and spent a couple of months in hospital, but we knew immediately she carried the gene as she was born with a large café-au-lait spot on her stomach. This was joined by many others as the months went on.
Concerned, we kept a close eye on her development, but at 12 months she was still not eating well and had persistent and ongoing fevers. She was classified as “failing the thrive” and was given a nasal gastric tube and peg to ensure she started to get the nutrients and calories she needed to grow. At the time she was in the 10th percentile for weight.The tube remained in place for almost a year and a half.Despite this, she was a good sleeper and moved around A LOT.
She started day care (where I work) at about 10 months, but by the time she was 18 months a plexiform neurofibroma (PN) had started to develop on her jaw. It was visible but was not causing too many issues at this point.
She did undergo fortnightly speech therapy, OT and physio to help with delays in her fine and gross motor skills – also common amongst kids with NF. She also underwent frequent MRIs to monitor the growth of her tumour, which continued to grow. It is heart-breaking to watch someone so small go under general anaesthetic each time.
Due to it’s location and potential impact, Alex was fortunate to spend two years on a clinical trial for Trametinib, a MEK inhibitor that has shown promise in stabilising and reducing the size of PNs. It was amazing the impact that it had on her tumour, reducing the size by 50% in two years.
It required monthly check-ins at the Royal Children’s Hospital in Melbourne at the NF Clinic – a drive that takes us around an hour each way from Geelong. Now that she is in school, this takes her away from friends she has developed and sport she likes to play. We are fortunate to be able to access this service that is funded by the Children’s Tumour Foundation and ensures Alex’s condition is managed well by the many specialists we need to see regularly, including neurology, oncology, and paediatrics. This is in addition to occupational therapy, speech therapy and physio.
Alex loves soccer, swimming, and dancing, despite experiencing some balance issues. She is also a huge Tay-Tay fan and carries her Barbies with her just about everywhere.
As a mum, it is tough to be away from the rest of our family to travel to her many appointments in Melbourne, .
As well as frequent sessions with allied health. All of which would be completely out of reach financially without NDIS – something we had trouble accessing, without the support of the Children’s Tumour Foundation
My other daughter Georgie is 12 and struggles with me being away so much and is concerned for her sister. I am managing all of Alex’s appointments, as well as my own, but that is simply the hand we have been dealt and we make the most of every moment together
I could not be prouder and know that raising awareness is important to ensuring greater access to care is made available to both kids and adults.
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