Not long after my firstborn’s first birthday, she was diagnosed with Neurofibromatosis Type 1 (NF1).
We had a wonderful (and very thorough) doctor who was examining her nappy rash and saw what I always thought were birthmarks. The markings turned out to be Cafe-au-lait spots which became surrounded by a cluster of freckles in her groin area.
We were referred to a skin specialist who performed a clinical examination which resulted in her writing down a word I had never heard before. I was told not to google it – but of course, I did!
What I saw was terrifying. I had no idea what this meant for her and thankfully managed to fast track an appointment with the NF clinic out at Westmead Hospital which is funded by the Children’s Tumour Foundation.
It was an extremely confusing thing to process because she seemed perfectly ‘normal’. Since then, we go for yearly check-ups and eye examinations. So far nothing of concern has presented itself (her glasses are unrelated to her NF but was picked up during testing).
As anyone with NF knows, there are so many unknowns. You will never truly know when or if something will happen.
They say that from five years onwards things like social and developmental challenges can pop up and we’ve certainly been navigating our way through some of these over the last year.
Knowing there are so many other children dealing with more severe symptoms, you sometimes don’t feel justified in worrying. It doesn’t make it any easier though.
We just need to be vigilant and stay positive for both her and us.
We don’t talk about it a lot with her because we don’t want her to feel any different. She is aware she has special markings on her body that we get checked, but that is really the extent of it.
It’s crazy how many people have never heard of it when it’s more common than you realise.
I think it is important to bring NF out of the shadows because whilst it is a relatively common condition, nearly everyone we have spoken to has never heard of it. Even some medical professionals! I think it is important for anyone living with NF to feel understood.
Due to the varying outcomes for each person living with NF, it becomes a very hard concept to explain and process. We have been very lucky to have the support of the Children’s Tumour Foundation who have shared support material we could give to her educators. This has really helped her teachers understand her needs from a learning and behavioural perspective.
We really feel like we are just at the beginning of this journey and need to stay vigilant of any symptoms that may signal a change in her condition. My husband and I often look at each other when she complains about pain or discomfort and wonder if it’s something we should be concerned about. Her spots and freckles are a constant reminder that there is an underlying condition that could surprise us at any time.
For now, we are grateful to have a happy little girl and try to stay positive – because worrying is never going to change the outcome! Instead, we focus our energy on supporting her individual needs as they arise, whether developmentally, academically or socially.
Ultimately, we want to raise a resilient child that won’t measure her worth on her ability or physical appearance, because we just never know how that may change over time.
For more information on NF and the incredible work done by the Children’s Tumour Foundation supporting families and raising awareness and much-needed funds visit ctf.org.au.