Neurofibromatosis? what? I had no idea and had never heard of this before.

My daughter was around 3 months old when I noticed two little brown marks on her tummy. I didn’t really think much of it but thought I would speak to my health nurse as we were due to see her the next day. She looked concerned when she saw them which I was surprised about. She said to take her to the GP to get a referral to a paediatrician. She was not 100% but it could be something called NF1 or neurofibromatosis type 1.
Of course when I got home I googled it, which was the worst thing I could do!
It came up with ALL the possible symptoms including but not limited to –
learning difficulties, café au lait marks, freckling under arms and groin area, tumour growths all over the body inside and out and brain and eye tumours.
I was beside myself (still am most days)
After seeing the paed we were sent to The Royal Childrens hospital to see a genetics specialist. Who told us we would have to wait and see if more symptoms arise to give a diagnosis. She goes to the eye specialist once a year and to her paed every 6 months. We were told that it is a genetic disease but because nether my husband or I had it she was a genetic mutation (just what you want to hear about your daughter)
In the following days, months and then years she continued to get the café au lait marks all over her body, she then got the freckling under the arm and a small tumour growth on her back.
We returned to the hospital before her 3rd birthday and not long after our second child was born and were given the ”official” diagnosis of NF1. I cried which was silly as I had already known deep down she had it.

We have no idea how our daughters future may go, but we DO know this, we have a very beautiful, happy and smart little 4 year old who can and will be anything she wants to be. Many friends we have met along the way with children that have NF have not been so lucky as we have so far and for that I am grateful.

I guess I would like you to take away three things from my story.

That you now know what Neurofibromatosis is! the more we get recognition out there the more research and hopefully one day a cure.

And to trust in the professionals you have around you. I am forever grateful to my maternal health nurse for her guidance in the early years and now to our fantastic paediatrician.

and finally trust your instincts and fight every day to ensure a better future for your child no matter what the circumstances.

Posted anonymously, 10th January 2015

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  • best of luck to you with your daughter and her health. I wish you both a life filled with love and happiness


  • I have a young friend … now 19 that has NF2… what he lacks in Mobility he makes up for it with his huge personality and caring nature.


  • nice story for read


  • Thank you for sharing. I had not heard of NF1 before so your article has certainly helped there. With a strong mum by her side your daughter is one lucky girl.


  • wow you are a wonderful person and it is sad that these things happen. at least your child is loved and wanted.


  • I also have NF1 and have gone through life with only a few growths that have needed removing. I have had MRI on brain to make sure they are not growing in there. The freckling and Café spots are just part of my character now


  • I also have a child with a disability – you love them madly but some days are scary.


  • Sending much love and positive vibes your way. Thank you for sharing your story and raising awareness.


  • By sharing your story, you’re raising the awareness of Neurofibromatosis. It’s fortunate you have medical professional you trust and you are taking each day as it come.


  • I wish your daughter the very best for her future growth and development. I had never heard of this condition so good on you for informing others. You’re absolutely right, trust your instincts where your children are concerned and always follow up if you think something is wrong or just not quite right.


  • Thank you sooo much for spreading the word and sharing your heartfelt story. I am sending much LoVe and gentle hugs your way and pray that the coming years will improve.
    All the very best wished for you all.


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