NF1-PN Care

Real Patient Living with NF1-PN

NF1-PN can impact your life in many ways

NF1-PN has presented some challenges, especially as I’ve gotten older.

– Krista, living with NF1-PN

What people don't know about NF1-PN

People who aren’t living with or caring for someone with neurofibromatosis type 1 with plexiform neurofibromas (NF1-PN) don’t always understand its impact. Below are some ways you can explain the effects of the condition to those who have never heard of it.

The physical impact of NF1-PN

The tumors associated with NF1 are known as plexiform neurofibromas (PNs). Because the size, number, and location of tumors vary, they can affect the body in different ways. Common symptoms that people with NF1-PN experience include1-3:

Pain on and around the tumor

While sensation and severity vary, many people living with NF1-PN report pain when their tumor is touched.

Difficulty moving around

If a joint or limb is impacted, NF1-PN can cause issues with how you walk.

Changes in appearance

Since tumors are most often found on the head, neck, and face, they can cause noticeable changes to how you look.

If you have pain, you are not alone

In one study, 93% of adolescents with NF1-PN and 100% of their caregivers reported pain as interfering with their daily functioning.4,*

The effects of NF1-PN can be serious

Depending on the location of PNs, some people may also have problems with their hearing, vision, or breathing. It is possible for PNs to become cancerous in up to 16% of people living with NF1.1,5-8

NF1-PN can be unpredictable

There may be times when PNs are growing quickly and other times when they don’t grow or change. Even if symptoms aren’t bothering you or the PNs don’t appear to be changing, it’s important to see a healthcare provider who can keep an eye on things and help make sure the condition doesn’t get worse.9-11

Owning your care​

See Antwan talk about how he stays motivated even on tough days.

Watch Video
Transcript

As far as what does owning your own care mean to me is one, knowing your body, knowing when something’s wrong, knowing when something’s off, and being able to communicate that to your doctors.

Like definitely when you live life with, with NF, you never know when something debilitating can happen to your body.

Really knowing when something’s off and having the discipline to contact your doctor and let them know.

And not like just thinking, like, well, I’m being a baby. It’s not that big of a deal.

Even if it’s small, it can turn into a big deal.

So when a doctor appointment is scheduled, you know, go to it.

Even if you think nothing’s wrong with you, you know, make sure you go to your follow up appointments.

I just love life too much not to take care of me. Cause you are your best asset. You are your best asset. Nobody can take better care of yourself than you.

Want more stories? Stay connected to hear from other people living with NF1-PN. Sign up now.

Mental and emotional impact of NF1-PN

People who don’t have NF1-PN, including family, friends, strangers, and even your doctor, may not realize the toll it can take on your mental and emotional health.

The Children’s Tumor Foundation has created A Guide for Adults Living With
NF1, a downloadable resource that explains all the different ways the condition can impact your life.†

Memory and ability to focus

NF1 can hurt your memory. Having less ability to remember things or focus can make school or work challenging.12,13

“Although I spent a lot of time studying, I did not learn anything. I am still the same way. I go through some material over and over again, but after a few minutes I totally forget it. I can’t remember anything.”

– Real person living with NF113

Anxiety and depression

In a study of 82 people with NF114,‡:

53.7%

HAD ANXIETY

76.8%

HAD DEPRESSION

How you socialize

NF1-PN can affect your self-esteem and desire to spend time with others. This can be particularly stressful as you get older and are expected to participate in social activities with other people your age.13,15
“When I was younger, I wondered what people thought when they saw the PN on my leg because it’s visible when I’m wearing a bathing suit and it was kind of embarrassing.”
– Lindsey, living with NF1-PN
Download the Diagnosed with Neurofibromatosis Type 1 (NF1) guide by the Children's Tumor Foundation.

Learn more about NF1 signs and symptoms

One of the first signs of NF1 is the appearance of brown spots on the skin, often called café au lait spots.16,17 Diagnosed with Neurofibromatosis Type 1 (NF1), created by the Children’s Tumor Foundation, can help you learn more about how the condition is diagnosed.†
DOWNLOAD

Staying engaged in your care

Having NF1-PN changes things. Taking an active role in your health can help you stay in control of what you can.

See How

*

Based on a questionnaire completed by the caregivers of 59 NF1-PN patients, 6 to 18 years of age, and 41 NF1-PN patients, 10 to 18 years of age, who were enrolled in an NF1 natural history study at the National Cancer Institute.4

†

SpringWorks Therapeutics is providing these websites and resources to help patients find more information about NF1-PN, but their inclusion does not represent an endorsement or a recommendation from SpringWorks Therapeutics for any group or organization. Any organization listed is independent of SpringWorks Therapeutics.

‡
Based on a study of 82 NF1 patients with a comorbid diagnosis of depression, anxiety, and/or attention deficit hyperactivity disorder.14
  1. Darrigo LG Jr, Ferraz VEF, Cormedi MCV, et al. Epidemiological profile and clinical characteristics of 491 Brazilian patients with neurofibromatosis type 1. Brain Behav. 2022;12(6):e2599.
  2. Lai J-S, Jensen SE, Patel ZS, Listernick R, Charrow J. Using a qualitative approach to conceptualize concerns of patients with neurofibromatosis type 1 associated plexiform neurofibromas (pNF) across the lifespan. Am J Med Genet A. 2017;173(1):79-87.
  3. Wise JB, Cryer JE, Belasco JB, Jacobs I, Elden L. Management of head and neck plexiform neurofibromas in pediatric patients with neurofibromatosis type 1. Arch Otolaryngol Head Neck Surg. 2005;131(8):712-718.
  4. Wolters PL, Burns KM, Martin S, et al. Pain interference in youth with neurofibromatosis type 1 and plexiform neurofibromas and relation to disease severity, social-emotional functioning, and quality of life. Am J Med Genet A. 2015;167A(9):2103-2113.
  5. Rance G, Zanin J, Maier A, et al. Auditory dysfunction among individuals with neurofibromatosis type 1. JAMA Netw Open. 2021;4(12):e2136842.
  6. Gross AM, Singh G, Akshintala S, et al. Association of plexiform neurofibroma volume changes and development of clinical morbidities in neurofibromatosis 1. Neuro Oncol. 2018;20(12):1643-1651.
  7. Higham CS, Dombi E, Rogiers A, et al. The characteristics of 76 atypical neurofibromas as precursors to neurofibromatosis 1 associated malignant peripheral nerve sheath tumors. Neuro Oncol. 2018;20(6):818-825.
  8. Miettinen MM, Antonescu CR, Fletcher CDM, et al. Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1—a consensus overview. Hum Pathol. 2017;67:1-10.
  9. 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):81-88.
  10. Stewart DR, Korf BR, Nathanson KL, Stevenson DA, Yohay K. Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018;20(7):671-682.
  11. Fisher MJ, Blakeley JO, Weiss BD, et al. Management of neurofibromatosis type 1-associated plexiform neurofibromas. Neuro Oncol. 2022;24(11):1827-1844.
  12. Crow AJD, Janssen JM, Marshall C, et al. A systematic review and meta-analysis of intellectual, neuropsychological, and psychoeducational functioning in neurofibromatosis type 1. Am J Med Genet A. 2022;188(8):2277-2292.
  13. Foji S, Mohammadi E, Sanagoo A, Jouybari L. How do people with neurofibromatosis type 1 (the forgotten victims) live? a grounded theory study. Health Expect. 2022;25(2):659-666.
  14. Houpt AC, Schwartz SE, Coover RA. Assessing psychiatric comorbidity and pharmacologic treatment patterns among patients with neurofibromatosis type 1. Cureus. 2021;13(12):e20244.
  15. Rosnau K, Hashmi SS, Northrup H, Slopis J, Noblin S, Ashfaq M. Knowledge and self-esteem of individuals with neurofibromatosis type 1 (NF1). J Genet Couns. 2017;26(3):620-627.
  16. Legius E, Messiaen L, Wolkenstein P, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med. 2021;23(8):1506-1513.
  17. Miller DT, Freedenberg D, Schorry E, Ullrich NJ, Viskochil D, Korf BR; Council on Genetics; American College of Medical Genetics and Genomics. Health supervision for children with neurofibromatosis type 1. Pediatrics. 2019;143(5):e20190660.