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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

What you need to know

Navigating Neurofibromatosis Type 1 (NF1) can be challenging, especially as the condition is still not widely understood among healthcare professionals. Because of this, it is often essential for patients and their families to take an active role in advocating for the right care and support. Here are some key points to help guide you through the process:

Be prepared to advocate

As a patient or caregiver, you may need to frequently advocate for yourself or your child to ensure they receive the attention and appropriate care they need. It’s not uncommon for doctors to be unfamiliar with NF1, and clear, consistent communication can make a big difference.

Know the right resources

Our website includes a dedicated section for healthcare professionals, covering key best practices for managing NF1. By guiding your doctors to this section, you’re helping to bridge the knowledge gap and empowering them to make the best care decisions.

Educate healthcare providers

Directing your healthcare professional to reliable resources is vital. Encourage them to visit our website, where they can find in-depth information about NF1 and practical guidance on treatment, monitoring, and supportive care. With this information, they can provide a better-informed approach to managing NF1.

Stay informed and connected

Knowledge is power. Staying informed about NF1 and connecting with others in the NF1 community can equip you with resources, support, and the confidence to advocate effectively. Remember, you’re not alone, and our online support group is there for you to ask any questions to help you on your journey.

10 things you should remember about neurofibromatosis type 1 (NF1)

  • 1.

    NF1 is a condition that affects approximately 1 in 3000 individuals.1

  • 2.

    Early diagnosis allows  patients and carers access to help, resources and support.

  • 3.

    NF1 causes tumours to grow on nerves and affects everyone in a different way.  NF1 can lead to  learning difficulties – sometimes needing extra support at school – and problems with bones, eyes and the nervous system.1, 2

  • 4.

    Having multiple birth marks may be a sign of NF1; 95% of those with NF1 will have 6 or more brown-coloured marks (Cafe au Lait marks).

  • 5.

    NF1 can affect anyone:  Half of those with  NF1 will have inherited the condition from a parent with NF11, 2 The other half will be the first in the family with no previous family history.1

  • 6.

    Symptoms and severity of NF1  can change over time. making life-long monitoring important.

  • 7.

    Mosaic (also called localised or segmental) NF1 affects specific  areas of the body, leaving the rest of the skin unaffected. Mosaic NF1 is far less common than  ‘generalised’ NF1, which affects the whole body.

  • 8.

    While  everyone  should take precautions to reduce the risk of  cancer, individuals with NF1 need to be especially careful. They should take actions  such as minimising exposure to radiation and use high-protection sunscreen, to reduce their risk.

  • 9.

    Patients, parents and caregivers are encouraged to reach out to networks and relevant organisations to access help, support and resources.

  • 10.

    With proper support those living with NF1 can lead fulfilling lives.

Reference

  • 1
    Hernandez-Martin A and Duat-Rodriguez A. An update on neurofibromatosis type 1: not just cafe-au-lait spots, freckling, and neurofibromas. An update part L dermatological clinical criteria diagnostic of the disease. Actas Dermosifiliogr 2016;107:454-64.
  • 2
    Choi J, An S and Lim SY. Current concepts of neurofibromatosis type 1: pathophysiology and treatment. Arch Craniofac Surg 2022;23:6-16.