Dialog Box

Children's Tumour Foundation

On the NF Journey

NEURO-WHAT NOW?

For many people and their families, the journey begins well before a diagnosis of NF is confirmed.

As a parent you might notice “birthmarks” or café-au-lait spots appearing on your child’s skin and wonder what they are. You may feel that your child is having difficulty with their vision, coordination or is delayed in their achievement of common milestones. You may have raised these concerns with your GP only to have them dismissed not once, but several times.

But still...you feel that something is not right.

Call it intuition, gut instinct or a parents sixth sense. You know something is going on.  

As an adult you might notice that you have lumps forming on your skin or you may have noticed an increase in headaches or some hearing loss. Perhaps you have unexplained chronic nerve pain that your doctors have dismissed or are unable to find the source.  

Then you hear it. Neuro-fibro-ma-to-sis. Your wonder if that is the answer. Could it be Neurofibromatosis? 

It does not matter how many times you hear or say it, it’s not a word that sits comfortably in your mouth. Having entered the doctor’s office looking for answers, you probably leave with more question, and the instruction by the doctor to “NOT GOOGLE IT”. 

What? Why can’t I google it? What will I find?   

If any of these scenarios sound familiar, you are not alone. The path to diagnosis can be a long and complicated one. Sometimes a diagnosis of NF can be made quite easily (see our section on diagnostic criteria), but for others, it could take several years and as many doctors.


SO, WHAT DO WE DO NOW?

It is important for you to feel heard by your GP. You may like to document your concerns and photograph any “birthmarks” (café-au-lait spots) – particularly if they are increasing in number.  

You may like confirmation of your suspicions by undergoing genetic testing - see Causes of NF section of this site. Even though NF may only be suspected at this stage, you and your family are still eligible for support from the Children’s Tumour Foundation.

You can contact our Support Services Team on (02) 9713 6111 or by email at support@ctf.org.au to discuss your concerns and to gain credible and accurate information on Neurofibromatosis or NF. If you would like, we will also provide you with connections to other community members and details of NF specialists in your area. 

Please read through to the Recently Diagnosed section for our suggestion on how to proceed. Even if you do not have a definitive diagnosis of Neurofibromatosis just yet, the Roadmap can still provide guidance for those embarking on the path of medical surveillance and monitoring. 

The CTF in the USA has an information sheet on café-au-lait spots, which can be found here.


ONE FAMILY’S STORY

Belinda, mother of Luke who has NF, is based in Queensland. Belinda has shared her story to highlight the frustration and emotional toll that is typical for a parent who now finds themselves “in limbo”, prior to a definitive diagnosis of NF. The following is an excerpt of Belinda’s detailed portrayal of life over this period.


Acknowledging, however reluctantly at times, the possibility that Luke has NF1 has helped me to help him where he needs it. Even if we don’t get the diagnosis, I have embraced the almost certainty that Luke has NF1 and I feel empowered to move forward in helping him in the areas he needs it. I also recognise that the individual help that we have accessed and done with Luke along the way were the best things we could have done for him anyway – diagnosis or not. Waiting for a diagnosis would not have helped Luke to grow. Helping him every day to learn the way he needs to learn is what has moved him forward.

READ THE FULL STORY 

Donate