A personal story of living with neurofibromatosis

Not long after my first born, Ishq’s, first birthday, she was diagnosed with Neurofibromatosis Type 1 – or NF1 as it’s commonly referred to.

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I was visiting the doctor for a routine check up when I asked her to observe her nappy rash which seemed to be persistent. Little did I know that I would walk out of that clinic with a post-it note and the word neurofibromatosis. 

What the doctor saw when I opened up her nappy, was a lot of freckling in the groin area. She asked if they had been growing in number – which they had. After checking over the rest of her little body, she found several Cafe Au Lait spots which I had always assumed were innocent birthmarks. I was a first time mum, after all.

We were referred to a skin specialist who performed a clinical examination and confirmed the previous doctor’s suspicions. Our daughter had something that I couldn’t pronounce and again, she told me to try not to Google it and worry too much but that I would need to go through the hospital for further investigations. I immediately called my husband who had already gone into a rabbit hole, Googling what we were told not to. And of course, fearing the worst. How could this precious and gorgeous little baby potentially have this ‘thing’ that they were talking about? She was perfectly normal in our eyes.

After visiting the NF clinic at Westmead Hospital which is funded by the Children’s Tumour Foundation, we spoke with a Professor who was extremely reassuring in that there is a good chance that she will live a somewhat normal life, but of course there are never any guarantees. Because NF1 is a progressive and lifelong condition with many variable outcomes.

Over the next few months we tried to process all of this information while dealing with the uncertainty of what may lie ahead. We were told to do a number of other tests, including eye testing for us all to eliminate us having Lisch Nodules. We didn’t have any markings or concerns in line with her diagnosis, so they ruled it to be a spontaneous mutation. Luck of the draw I guess, and we just happened to draw that straw.

So, what is Neurofibromatosis? 

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Neurofibromatosis (NF) refers to a group of rare and complex genetic conditions that cause tumours to form in the body, including the brain and spine. 1 in 5 children will develop a brain tumour and without careful monitoring, these children could become vision impaired, blind or something far worse.

NF affects 1 in every 2,500 people in Australia, with millions impacted globally. Unfortunately, no two cases of NF are the same, which is why you have to take a personalised approach when it comes to care.

As well as deafness and blindness, NF can also lead to a range of significant health issues such as physical differences, bone abnormalities, learning difficulties, chronic pain and in 10 percent of cases, cancer. Like us, roughly half of the cases arise in families with no history of NF.

NF is unpredictable, progressive and there is no cure, but there is hope.

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Monitoring the signs and symptoms of NF

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We started going for yearly check ups at the NF clinic (before Covid of course) and continued to monitor her for any symptons. As a first time parent it’s really hard because you just don’t know when something might be ‘abnormal’. Every stomach pain, every headache, every strange little reaction… left us wondering if it was something more sinister.

I recall her having weird stomach pain a few times where she would go pale, throw up (on occasions) and then all of a sudden come good. It wasn’t until many years later that I happened to mention this to the Children’s Tumour Foundation and they raised the possibility of stomach migraines which seem to pop up with NF kids. There was another trip to the doctor to discuss this but, of course, there really wasn’t much we could do.

I often think back to the time that I took her to emergency because I just wasn’t sure how bad the stomach pain was. When I told them she had Neurofibromatosis, at least 3 different medical professionals looked at me blankly. It was crazy to me that so many health professionals were still unaware of NF when there is one child born every three days with it.

Due to the variable signs, symptoms and outcomes for each person living with NF, it becomes a very hard concept to explain. We have been very lucky to have the support of the Children’s Tumour Foundation who have shared support material that we have given all of her educators. This has really helped her teachers understand her needs from a learning and behavioural perspective.

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Learning & behaviour associated with Neurofibromatosis 

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We were always told that our daughter may experience challenges once she reached her school years and I am so glad we knew what to look out for. With 80% of our little NF warriors experiencing learning difficulties, there was a very good chance she would present with some.

From as early as kindergarten we could see some impulsive traits coming through, along with sensory issues and anxiety at school drop off. To others she would just seem like a very energetic and friendly little thing who might not be wearing socks that day, but as she got older her unique traits and social struggles started to shine through.

They say a lot of kids with NF can experience isolation, bullying and that feelings of exclusion are common due to physical and social limitations. This really became prevalent last year as her earlier school friendships started to drop off. I always blamed myself for not setting up enough playdates but it became evident that she struggled with social interactions and knowing her place within a ‘game’. For someone who was a beautiful little performer at home, she struggled with physical activities like playing handball and said she certainly ‘didn’t want to spend her lunch running around the playground’. She favoured the library or drawing, because it seemed like this was something she felt she had control of and didn’t need to ‘keep up’.

While she is a pretty good reader of people and knows if something doesn’t feel right, she still struggles to know her place in friendships. She told me recently that her favourite group of girls told her that she needed to ‘plan ahead’ if she wanted to join them during lunchtime because it takes her too long to understand the rules of the game. That is a really hard thing to hear as a parent but it explains why some days seem harder than others when she walks back in the door.

She is also the kid that has to slip out to medical appointments and leaves earlier on a Monday to ensure she can make all of her therapy appointments. Our week days are spent doing speech therapy, occupational therapy, gymnastics & movement and psychology (fortnightly) – and then there is her swimming lesson, singing lesson and musical theatre. It sounds like an awful lot but there has been a significant amount of time spent getting this all in place and balancing it out to ensure she doesn’t feel overwhelmed.

ADHD & ASD diagnosis 

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Approximately 38% of children with NF1 will have attention-deficit/hyperactivity disorder (ADHD) and some studies have reported that 29% of children with NF1 have autism spectrum disorder (ASD). So, we were lucky in some ways that we knew to look out for this once she started school and were able to get her tested and supported as early as possible. And when I say ‘lucky’ it’s because you still hear of so many girls who go undiagnosed because of their ability to ‘mask’ their symptoms.

Once Ishq started school we noticed that she was getting more restless in class and was having a hard time keeping up with her peers when things started to get harder. For a child that was always the ‘first’ to do things when climbing milestones, she suddenly seemed to be stalling and it was clear that she was unable to process things the way others did.

I have since learnt that the learning and behavioural challenges that kids with NF face, overlap with a lot of what you see in a kid with ADHD/ASD. A psychologist told me recently that the type of Autism we see in an NF kid is slightly different to a child who has it outside of NF, however they still meet the criteria for Autism. A lot of people like to say ‘why do we have to label everything?’ and ‘Aren’t we all on the spectrum somewhere?” but what they fail to understand is that it means that her brain is built differently! It isn’t broken – but it is different – and we can’t expect the same from her as you would a neurotypical child. Whilst she has incredible gifts that I wouldn’t trade for the world, she also finds some of the more simple and practical things challenging. I love that by getting her an ADHD diagnosis, we are able to have open conversations with her about her ‘Ferrari brain’ and work together to ensure she knows what she needs to look after her unique brain.

When we recently found out she was also level 1 Autism, this didn’t come as a complete shock but we had always put her sensory needs and quirky behaviour down to the NF and ADHD. It wasn’t until I started tracking back through her earlier years and watching old videos to see if there were any other signs.

I suddenly found myself recalling her cute little flapping hands and bird squawks, her reaction to the loud noise the blender made, the dancing with her spinning hands and the way she reacted when knocking her head badly at the park – it was like nothing happened.

More recently, it was the super hot showers, the need for seeking sensory stimulation and the avoidance of certain clothing items. All things that seem ‘normal’ throughout the toddler stage but she just didn’t seem to grow out of it.

Getting her Level 1 Autism diagnosis was hard to process. Not because it changed anything in the way we supported her, but because it just felt so much bigger. Maybe because of the stigma that goes along with it, or the fact it receives much more support than something like ADHD (which is ridiculous).

Neurofibromatosis Awareness Month

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May is Neurofibromatosis (NF) Awareness month and an important time for the Children’s Tumour Foundation to improve understanding of the signs and symptoms of NF, to share the stories of real people affected by the condition and to educate Australians on the diagnosis and treatment.

You might be surprised to know that in terms of prevalence, it stands with other genetic conditions like cystic fibrosis, yet receives minimal funding for support and research.

Let’s Bring NF Out of the Shadows this May! 

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The Children’s Tumour foundation has been a huge support for our family. While we believe we are ‘lucky’ to be impacted minimally at this stage, we know there are so many who are worse off and facing far greater challenges. The CTFA have been a knowledgeable ‘ear’ to call on for guidance and almost feel like our extended NF family.

By talking more about NF we generate greater awareness of the signs and symptoms which can lead to earlier diagnosis, interventions and treatment.

By contributing to NF, you are helping us work towards the medical advancements needed to make life more comfortable for those living with NF, and ultimately work towards finding a cure!