Mom Advocates for More Research After Daughter’s NF1 Diagnosis

Editor’s Note: We believe that patients are a key part of developing and leading the conversation in disease communities. Patient Worthy sometimes partners with reputable agencies that wish to speak with patients about opportunities related to their diagnosed conditions. These opportunities can include activities such as sharing stories with other patients or health professionals about their diagnosis journey or recording video testimonials. To learn more about how to get involved with an opportunity for individuals impacted by Neurofibromatosis type 1 (NF1), click the button below.

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When Carly Joseph first heard that her daughter Marissa had vomited at nursery, she wasn’t too concerned. After all, maybe Marissa just didn’t feel great that day. But her worry grew exponentially when she went to pick Marissa up. Her daughter was unmoving and floppy, and – at one point – Marissa even lost consciousness. What Carly didn’t know at the time was that these symptoms were caused by a brain tumor due to Marissa’s undiagnosed neurofibromatosis type 1 (NF1).

According to an article in the BBC, Carly rushed Marissa to the hospital to try to figure out what was going on. Marissa underwent a series of testing. In addition to finding signs of a brain tumor on scans, one doctor also noticed something else. He found that Marissa had flat, light-brown spots on her skin, on areas like her neck. These are a common sign of NF1. 

Since her diagnosis, Marissa underwent chemotherapy to address her brain tumor. She is now doing much better. Her mom describes her as a happy, upbeat, smiley girl. Now, though, Carly hopes to raise awareness and also spur research. She hopes that organizations will increase funding into brain tumor research to help others going through the same situation. 

About Neurofibromatosis Type 1 (NF1)

Neurofibromatosis type 1 (NF1) is a rare genetic nervous system disorder, and one of three forms of neurofibromatosis; the others are NF2 and schwannomatosis. This disorder results from NF1 gene mutations. These mutations cause a loss of neurofibromin, a protein which plays a role in cell growth regulation. In NF1, tumors – which may be benign or progress to become malignant – form on healthy nerve tissue. Symptoms typically manifest in early childhood. These can (but do not always) include:

  • Soft bumps (neurofibromas) on or under the skin
  • Tiny bumps on the irises (Lisch nodules)
  • Freckling in the armpits or groin
  • Cafe-au-lait spots (flat, brown spots on the skin) 
  • High blood pressure
  • Macrocephaly (larger than average head size)
  • Short stature
  • Attention deficit hyperactivity disorder (ADHD) 
  • Learning disabilities
  • Scoliosis or other skeletal abnormalities

Interested in an opportunity to share your story related to Neurofibromatosis type 1 (NF1)? Click here to learn more.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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