NF1-PN Care

Real Patient Living with NF1-PN
I always wear my hair down to cover the plexiform on my neck.
– Krista,
living with NF1-PN
For people living with neurofibromatosis
type 1 with plexiform neurofibromas (NF1-PN)

Coping isn’t care.

The adjustments NF1-PN patients make are not an alternative to the care they need.

All images and quotes are from real people living with NF1-PN, but every patient’s experience is different.

You have the expertise to help patients manage their NF1-PN rather than just live with it. And we have the resources to help you do that.​

About NF1-PN

  • Neurofibromatosis type 1 (NF1) is an incurable genetic condition affecting ~1 in 2500 newborns worldwide that is caused by a pathogenic variant in the NF1 tumor suppressor gene1,2
  • People with NF1 have a shorter life expectancy; the median age of death for the US population is 74 years vs 59 years for those living with NF13,*
  • Peripheral nerve sheath tumors called plexiform neurofibromas (PNs) are a common clinical manifestation of NF11
of children and adults with NF1 develop PNs1,4,5
  • PNs are highly invasive and often cause debilitating morbidities, including pain, disfigurement, compression of internal organs, impaired physical function, and reduced quality of life (QoL)5,6
  • Malignant transformation may occur; malignant peripheral nerve sheath tumors (MPNSTs) occur in up to 16% of patients with NF17,8
  • MPNSTs are associated with a 5-year overall survival rate of 35% to 50%7,9
  • There are 30,000 to 50,000 people in the US living with NF1-PN, and the majority of them are adults1,4,5,10,11

Meet Antwan​

Antwan has been living with NF1-PN for decades. Hear him talk about how he copes with the day-to-day challenges of NF1-PN.

See His Story
Transcript

My name is Antwan. I’m 38 years old from Kansas City, Missouri.

From what I know, I was two years old when I was diagnosed with NF1. I didn’t realize what NF was really until I became an adult when it really started to give me some challenges.

In 2010, when stuff really hit the fan, it was like, all right, something’s really wrong. Like, I can barely breathe. Like, now I’m like, barely had any energy, and like, I was like, literally on my deathbed.

One doctor encouraged my mom to have me transferred. Another doctor took over and said, hey, we know exactly what to do. And that’s when they realized that a tumor was like, pushing against my lung. So it didn’t leave a lot of room for my lungs to expand, so I wasn’t producing enough oxygen.

But, hey, as long as I can still move around, I’m happy. Like, I don’t get around as easy as the average person, but to me, like, I don’t know what average is because I lived with this my whole life.

I always like to tell people I’m like the sickest healthiest-person you’ll ever meet.

So I’ve had 18 surgeries. I’ve been in the hospital over 25 times, but yet, I’ve traveled. Like, I’ve graduated with a master’s.

No matter what you go through in life, if you have that right attitude, you can, you can really do anything you want.

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The burden of NF1-PN

NF1-PN can impact every aspect of patients’ lives.

See How
*
Based on an analysis of multiple-cause mortality files compiled from US death certificates by the National Center for Health Statistics from 1983 through 1997.3
  1. Ejerskov C, Farholt S, Nielsen FSK, et al. Clinical characteristics and management of children and adults with neurofibromatosis type 1 and plexiform neurofibromas in Denmark: a nationwide study. Oncol Ther. 2023;11(1):97-110.
  2. Lee T-SJ, Chopra M, Kim RH, Parkin PC, Barnett-Tapia C. Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis. Orphanet J Rare Dis. 2023;18(1):292.
  3. Rasmussen SA, Yang Q, Friedman JM. Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am J Hum Genet. 2001;68(5):1110-1118.
  4. Prada CE, Rangwala FA, Martin LJ, et al. Pediatric plexiform neurofibromas: impact on morbidity and mortality in neurofibromatosis type 1. J Pediatr. 2012;160(3):461-467.
  5. 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.
  6. 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.
  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. Zehou O, Fabre E, Zelek L, et al. Chemotherapy for the treatment of malignant peripheral nerve sheath tumors in neurofibromatosis 1: a 10-year institutional review. Orphanet J Rare Dis. 2013;8:127.
  10. Kallionpää RA, Uusitalo E, Leppävirta J, Pöyhönen M, Peltonen S, Peltonen J. Prevalence of neurofibromatosis type 1 in the Finnish population. Genet Med. 2018;20(9):1082-1086.
  11. U.S. population estimated at 332,403,650 on Jan. 1, 2022. U.S. Department of Commerce. January 6, 2022. Accessed April 16, 2024. https://www.commerce.gov/news/blog/2022/01/us-population-estimated-332403650-jan-1-2022