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Supporting children, young adults and their families up to the age of 30

Supporting children, young adults and their families up to the age of 30

Your child’s been
diagnosed with

NF1

(Neurofibromatosis Type 1)

What now?

If your child has been diagnosed with NF1, you’re probably thinking, “What now?”. This website has had input from parents of children and young people with NF1 with the aim of answering some of the questions you may currently have, and – just as importantly – to let you know you’re not alone.

Your child’s been
diagnosed with

NF1

(Neurofibromatosis Type 1)

What now?

NF1

If your child has been diagnosed with NF1, you’re probably thinking, “What now?”. This website has had input from parents of children and young people with NF1 with the aim of answering some of the questions you may currently have, and – just as importantly – to let you know you’re not alone.

We know that appointments with your doctor can go by really quickly and that later on you may struggle to remember all that’s been said. Plus, you may still have a lot of questions about NF1 that you didn’t get a chance to ask during the appointment, such as…

What is NF1?

NF1 is a genetic condition that occurs in around 1 in 3,000 people.1 NF1 isn’t spread like a cough or cold, it’s decided by DNA. DNA determines all kinds of things about us, such as how tall we are, and what colour eyes and hair we have. People with NF1 have differences in their DNA that can’t be controlled by factors outside of their body. NF1 can be passed down through the DNA of a child’s mother or father. However, in up to 50% of cases, the condition is the result of a spontaneous genetic change in the child’s DNA, meaning they are the first in the family to have it.2, 3

General symptoms of NF1

These are the things you might see in your child that can be associated with NF1, but having any one or two of these symptoms alone does not necessarily mean your child has NF1.
Some common symptoms include:

Café-au-lait Spots:   Light brown skin spots that look like birthmarks.

Freckling:   Freckles in unusual places, such as the armpits or groin.

Lisch Nodules:   Tiny bumps on the iris of the eye, which usually don’t affect vision.

Neurofibromas:   Soft, benign (non-cancerous) tumours that can develop on or under the skin.

Learning Disabilities:   Some children with NF1 may have learning challenges or ADHD.

Bone Abnormalities:   Some may have issues like scoliosis (curved spine) or bowed legs.

Diagnostic criteria for NF1

To diagnose NF1, doctors use specific criteria. A child must have two or more of the following features (hover over image to read):

Six or more café-au-lait spots*

Larger than 5 mm in pre-pubertal children or larger than 15 mm in post-pubertal individuals.

Tumours

Two or more neurofibromas (benign tumours), or one plexiform neurofibroma (a larger, more complex tumour).

Freckling

In the armpits or groin.

Two or more Lisch nodules

Lisch nodules are yellow brown dots on the iris of the eye.

Or two or more abnormalities in the choroid

The layer of the eye containing blood vessels.

Optic glioma

A tumour on the optic nerve, which may affect vision.

Bone abnormalities

Such as thinning of the long bones or a specific bone abnormality called sphenoid dysplasia.

A first-degree relative with NF1

Such as a parent, sibling, or child who meets the criteria.
*Café-au-lait marks should affect both sides of the body, when only one side has these marks it may be a sign of mosaic Nf1, which only affects part of the body. There are also conditions other than NF1, such as Legius that present with café-au-lait marks.

Understanding the difference

Symptoms

Symptoms are things your child may have that could be related to NF1. For example, your child might have a few café-au-lait spots, but this alone doesn’t confirm the diagnosis. Many symptoms of NF1 can also be found in people who do not have the condition which is why it is important to see a medical professional for advice.

Diagnostic criteria

Criteria are specific features that doctors look for to officially diagnose NF1. Your child needs to meet two or more of these criteria to be diagnosed with NF1.

Understanding the pathway of the NF1 gene

Understanding the pathway of the NF1 gene

A parent with NF1 based on diagnostic criteria

Genetic tests are not always required, but they may be suggested when there is no clear diagnosis, possibly becuase visible symptoms are not obvious or have yet to develop.
Genetic analysis is used to support other diagnostic criteria. This means that there must be at least one other diagnostic feature present to confirm NF1.

What should I tell my child about their diagnosis?

Be honest with your child from the start and be open about the condition with them and those around them. Childhood Tumour Trust have a booklet for children, using their mascot Patches, to help explain their diagnosis and a video for other people such as family and friends.

What happens after Diagnosis?

Now that your child has been diagnosed, you may be wondering what happens next. Your child might not be prescribed any treatment in the first instance. Instead, you may be asked to keep a close eye on your child’s health and behaviour, to monitor for any changes. Such changes can include:

  • New lumps or bumps, or changes to existing ones
  • Headaches
  • Alterations to speech
  • Changes in their ability to move around
  • Difficulties with social interactions
  • Sensitivity to light, noise, touch, tastes, or smells
  • Changes in eyesight

Quite often families of children with NF1 will hear the phrase, ‘watch and wait’ or something similar. What this means and how to deal with this period of uncertainty is a challenge many parents and caregivers struggle with as it feels vague in a time when all you really want is answers and clarity.

Watch and wait basically means, ‘Let’s wait and see how things develop’ with the child, their symptoms and any associated medical concerns. For some this increases anxiety and questions of ‘What am I waiting for?’ – for others it’s a relief that there’s nothing so concerning that it needs immediate treatment or interventions.

Our advice to anyone in this situation is to ask your medical professional if there’s anything specific that you should be watching out for (the list above should help) and ensure you know who to contact if there any changes in your child’s symptoms or condition that cause you concern – that could be your GP, your child’s paediatrician or one of the various specialists that your child may be referred to.

What should I tell my child about their diagnosis?

Be honest with your child from the start and be open about the condition with them and those around them. Childhood Tumour Trust have a booklet for children, using their mascot Patches, to help explain their diagnosis and a video for other people such as family and friends.

What happens after Diagnosis?

Now that your child has been diagnosed, you may be wondering what happens next. Your child might not be prescribed any treatment in the first instance. Instead, you may be asked to keep a close eye on your child’s health and behaviour, to monitor for any changes. Such changes can include:

  • New lumps or bumps, or changes to existing ones
  • Headaches
  • Alterations to speech
  • Changes in their ability to move around
  • Difficulties with social interactions
  • Sensitivity to light, noise, touch, tastes, or smells
  • Changes in eyesight

Quite often families of children with NF1 will hear the phrase, ‘watch and wait’ or something similar. What this means and how to deal with this period of uncertainty is a challenge many parents and caregivers struggle with as it feels vague in a time when all you really want is answers and clarity.

Watch and wait basically means, ‘Let’s wait and see how things develop’ with the child, their symptoms and any associated medical concerns. For some this increases anxiety and questions of ‘What am I waiting for?’ – for others it’s a relief that there’s nothing so concerning that it needs immediate treatment or interventions.

Our advice to anyone in this situation is to ask your medical professional if there’s anything specific that you should be watching out for (the list above should help) and ensure you know who to contact if there any changes in your child’s symptoms or condition that cause you concern – that could be your GP, your child’s paediatrician or one of the various specialists that your child may be referred to.

Will my child grow tumours?

We understand that the word ‘tumours’ can be scary, but not all tumours are harmful. There are a number of different tumours associated with NF1, of which your child may have some or none.

Subcutaneous and cutaneous neurofibromas are small bumps that appear on or under the skin, and usually appear at puberty, but can be seen in younger children. These appear in almost everyone with NF1 at some point, but can be relatively few in number.4

Plexiform Neurofibromas can be more symptomatic. They develop in around 30-50% of those with NF1. Early signs may be an unexplained lump, or a very large café-au-lait mark that becomes thickened and may have excessive hair growth.4 It is important that these are monitored by an NF1 specialist, and an appointment is made if there is any rapid increase in growth or pain. If they become symptomatic, surgery is often the first option.4

Optic pathway gliomas (OPGs) (sometimes described simply as “brain tumours”) are lumps that grow on the optic nerves. They can cause problems with vision, so it is essential to have regular check-ups with an ophthalmologist, and they usually appear up to the age of 7. These are slow growing tumours and there is often no treatment needed other than regular monitoring. If any issues arise prognosis is normally good with the appropriate treatment.4

What can I do to help my child?

It’s crucial that you and your child attend all their appointments, such as eye tests, scans in hospital and check-ups with the paediatrician, which should include a blood pressure check.

It is common for children with NF1 to have disrupted sleep patterns, which you should discuss this with your medical team. Options are available including prescribed medication such as melatonin.

As with all children, your child should be encouraged to eat a health balanced diet, which is not always easy. They might need additional supplements such as Vitamin D, which your healthcare practitioner may want to discuss with you after a blood test.

You might want to find out if there are any clinical research studies currently enrolling that may be suitable for you and your child. Search ClinicalTrials.gov to see what’s out there. Always ask your doctor if you’re unsure about anything.

You may also find your child needs more help at school, ensure your child’s educational placement is informed, including the school nurse, of the possible learning and health implications of NF1.

Who could be in my child’s healthcare team?

After diagnosis, your child may be seen by several specialists depending on how NF1 affects their health. Your child’s experience may be different from someone else’s, but here are some healthcare practitioners you might meet:

Paediatrician

Paediatricians treat children, so you’ll probably get to know this team member quite well.

Ideally, your child’s paediatrician should have experience in NF1 and should know when to bring in other experts to give your child the best possible care.

Ophthalmologist /Optometrist

Ophthalmologists specialise in the examination and treatment of the eyes. They should perform check-ups annually until the age of 8.

After that, there should be annual checks by an optometrist or an optician who can test for any changes in your child’s vision.

School Nurse

The school nurse is to ensure that your child gets the right support around their medical needs in school.

Physiotherapist / Occupational Therapist

They will help with fine and gross motor skills, mobility and function and emotional regulation.

These aren’t the only specialists your child may get support from, but they are likely to be a part of your core healthcare team. If you’re not sure about the role of any members of the team, please ask your paediatrician to explain it to you.

What tests are used to monitor a child?

There are several tests that your child may have, click here click here for an explanation of the most common.

What can I do to help my child?

It’s crucial that you and your child attend all their appointments, such as eye tests, scans in hospital and check-ups with the paediatrician, which should include a blood pressure check.

It is common for children with NF1 to have disrupted sleep patterns, which you should discuss this with your medical team. Options are available including prescribed medication such as melatonin.

As with all children, your child should be encouraged to eat a health balanced diet, which is not always easy. They might need additional supplements such as Vitamin D, which your healthcare practitioner may want to discuss with you after a blood test.

You might want to find out if there are any clinical research studies currently enrolling that may be suitable for you and your child. Search ClinicalTrials.gov to see what’s out there. Always ask your doctor if you’re unsure about anything.

You may also find your child needs more help at school, ensure your child’s educational placement is informed, including the school nurse, of the possible learning and health implications of NF1.

Who could be in my child’s healthcare team?

After diagnosis, your child may be seen by several specialists depending on how NF1 affects their health. Your child’s experience may be different from someone else’s, but here are some healthcare practitioners you might meet:

Paediatrician

Paediatricians treat children, so you’ll probably get to know this team member quite well.

Ideally, your child’s paediatrician should have experience in NF1 and should know when to bring in other experts to give your child the best possible care.

Ophthalmologist /Optometrist

Ophthalmologists specialise in the examination and treatment of the eyes. They should perform check-ups annually until the age of 8.

After that, there should be annual checks by an optometrist or an optician who can test for any changes in your child’s vision.

School Nurse

The school nurse is to ensure that your child gets the right support around their medical needs in school.

Physiotherapist / Occupational Therapist

They will help with fine and gross motor skills, mobility and function and emotional regulation.

These aren’t the only specialists your child may get support from, but they are likely to be a part of your core healthcare team. If you’re not sure about the role of any members of the team, please ask your paediatrician to explain it to you.

What tests are used to monitor a child?

There are several tests that your child may have, click here for an explanation of the most common.

Where can I find support?

Childhood Tumour Trust Facebook Group

A closed Facebook group providing NF1 support and information.
Visit group page

Tumour Support Scotland

A charity based in Scotland that provides advice on supporting children with NF1 who have learning difficulties.
Visit website

Nerve Tumours UK

A charity that offers in-depth guides to every aspect of NF1, including a booklet for teachers to learn more about the condition. They have also created a network of specialist NF1 nurses who work at NHS trusts around the UK.
Visit website

NF Patients United

Neurofibromatosis Patients United (NFPU) is the European Neurofibromatosis umbrella patient association.
Visit website
Remember to look after yourself and take time out to recharge. You can’t look after your child if you’re suffering from burn-out. It’s normal to go through a range of emotions at diagnosis – including grief. It is important to discuss how you’re feeling and get the support you need. Childhood Tumour Trust has a counselling service as well as workshops to help you through diagnosis and beyond.

Will my child need help at school?

Living with special educational needs

The majority of children with NF1 will have an average or above average IQ; they often just need different teaching methods to help them fully engage with learning. Common associated conditions include:

  • Autism and ADHD traits
  • General learning difficulties
  • Specific learning difficulties such as dyslexia or dyscalculiaSpecific learning difficulties such as dyslexia or dyscalculia
  • Sensory processing difficulties
  • Speech / language / communication difficulties
  • Memory difficulties
  • Difficulties with processing

Some children and young people will need additional help in school and will be placed on the SEN register, meaning the school will have an individual learning plan for them to ensure they get the help they require. If additional support is needed, the school or parents can apply for an Education, Health and Care Plan (EHCP) to ensure all their needs are identified and met.

What an EHCP can do to help…

Ewan really struggled in mainstream education and was falling behind and finding it hard to make friends. His parents requested assessments and applied for an EHCP. Now Ewan is thriving in a specialist dyslexia school where he has lots of friends and feels he fits in.
George has an EHCP but couldn’t cope in a school environment. They are now home educated and attend a number of activities including Forest School. They are learning in their own way at their own pace and are so much happier.
Sage now attends a school for children with physical and mental health difficulties. They now feel able to learn. Clare supported our EHCP application and helped us get an appropriate placement for Sage. We are both so grateful.
Get more info about school and education
 

Frequently asked questions

1. Is NF1 life limiting?

NF1 is not life limiting for most children but some of its rare complications can cause serious – possibly life-threatening – health problems, which is why we emphasise the importance of getting every symptom checked.

2. What are the serious signs I should look for?

The key symptoms to watch out for are unusual posture, vision changes, frequent persistent headaches, an increase in pain, or unusual lumps.

3. Will my child develop tumours?

Tumours occur in most children with NF1, but they are usually harmless. Around 1 in 3 children with NF1 develop “plexiform” tumours that may cause more complications.

4. Will they be in pain?

NF1 can cause pain if tumours grow in sensitive areas of the body and some manifestations can be uncomfortable. If your child is in pain, ask your paediatrician to refer you to a pain specialist who can provide the help you need.

5. What do I tell my child about the diagnosis?

It’s important to be honest with your child right from the start. Use our Patches Diagnosis book to start the conversation and then take them out for a fun activity so they don’t get worried that something is wrong. Make sure they know that there are lots of other children with NF1.

6. Who can I talk to?

The first step is to go to the Childhood Tumour Trust website and join our Facebook group – we’ll try to answer any questions you have. Other charities like Nerve Tumours UK also offer a helpline you can call during the day.

7. Will my child need help in school?

Many children with NF1 do have learning difficulties such as ADHD or autism, but with proper support they can still succeed at school. Your local SEND coordinator will be able to help you.

8. Can my child still live independently when they grow up?

As long as your child is healthy and keeps seeing the doctor for regular checks, there’s no reason that NF1 should stop them being independent as they get older. They might take a little longer to leave the nest, but they can still fly.

References

  • Tamura R. Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis. Int J Mol Sci. 2021;22(11).
  • Cancer Research UK. Genes, DNA and cancer. Available at: www.cancerresearchuk.org Last accessed March 2022.
  • University of Alabama at Birmingham: School of Medicine Neurofibromatosis Program. Inheritance and Genetics of Neurofibromatosis Type 1 (NF1).
    Available at: https://www.uab.edu Last accessed March 2022.
  • Ferner RE, Huson SM, Thomas N, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet. 2007;44(2):81-8.

Our stories of living with NF1

Austin

Our son Austin is 8 years old. He was diagnosed with NF1 aged 3 after we noticed many café-au-lait marks and freckling. The journey to diagnosis was a struggle, but was confirmed after genetic testing. No-one in the family carries the gene. Austin is hypermobile, has speech and language difficulties and some mild learning differences. He is currently classed as ‘mild’.

Nicole

When my daughter Nicole was born, her café-au-lait marks were dismissed as birth marks. When she was 3 it was suggested that she had NF1 due to the café-au-lait patches and delayed speech. Nicole was the first in the family to be diagnosed with NF1 and it has been a learning curve. She has a large plexiform wrapped around her sciatic nerve, scoliosis and ASD. Despite most of her childhood going in and out of hospital for scans, surgery and appointments, and struggling through school, she is finishing her degree in Design Engineering living independently and travelling the world. She is proud of who she is and wants to advocate for others. In her words, she can do almost anything anyone else can – just sometimes a bit differently. Learning to live with NF1 will take time, and nobody can predict the pathway ahead but the important thing as a parent/carer is to be aware of changes in the condition, who to see and when, to recognise that NF1 is part of your child and everything else will follow.

Dan

I know I don’t look like there’s anything “special” about me, but I was born with a rare disease called Neurofibromatosis type 1 (NF1). NF1 is a genetic condition. It can be passed down from parent to child, or, as in my case, it can be a spontaneous genetic mutation. NF1 causes tumours to grow along nerve routes. Some people will have lots, other will have very few. They can grow internally or externally. My tumour grew internally on my optic nerve. I underwent 18 months of chemotherapy, which so far has stopped my tumour from growing. NF1 can also cause learning difficulties, autism and ADHD, all of which I have.

Clare

My Mum first noticed my café-au-lait marks when I was a baby but her concerns were brushed off by medical professionals. Thirty years ago even fewer professionals really knew about neurofibromatosis. It wasn’t until my 3-year check that a doctor picked up on the way I walked (turning my feet inwards) and my café-au-lait marks, that I was referred and diagnosed. I went through school, college and university with very little support. Looking back now I should have had a lot more help, including assessments for learning difficulties and ASD/ADHD. Despite that I achieved good grades at GCSE and A Level, I went on to qualify as a children’s nurse and worked in the NHS on NICU and PICU for 17 years. I have a facial plexiform tumour for which I’ve had multiple surgeries but I don’t let NF1 hold me back.

Alfred

Our son, Alfred, was diagnosed at around 18 months after more than a year of medical professionals suggesting (or discounting) NF1 as a possible underlying condition. Alfred also has glaucoma, which was confirmed when he was just 3 weeks old and he had four operations in his first year of life to safe his sight. It is down to his eye consultant’s tenacity that we saw several different doctors and eventually a geneticist. The jigsaw of different medical views suggested that NF1 wasn’t likely but the genetic tests showed otherwise. No-one else in the family has NF1 and his condition is down to a spontaneous mutation. Alfred has a plexiform neurofibroma that is growing around his right eye. He’s had two operations to ‘debulk’ the tumour but each time it has grown back and a third operation is due soon. Thankfully, other symptoms are mild at the moment. He has just a few small café-au-lait patches and no other associated problems. However, we live in constant fear that this could change at any moment. Finding Childhood Tumour Trust has given us a sense of family and perspective. Alfred’s been able to meet other children with NF1, and joins in lots of activities that are accessible and inclusive, while parents can share their concerns or experiences knowing others will understand. It’s changed our journey and has helped us through some difficult times.