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 neurofibromatosis patients, click here.

When Lindsey Marson’s son was just a few weeks old, doctors became concerned about his health. They performed testing. Eventually, this uncovered a sizable plexiform tumor. The Children’s Tumor Foundation explains that plexiform tumors are often large, lack well-defined borders, and:

often feel like a bunch of cords or knots beneath the skin and may have a variation in texture or darker pigmentation on top of the skin.

In Bryson’s case, his tumor spanned across his face, eyes, and even over his brain. As reported by Christine Ileto in 6ABC, doctors soon diagnosed Bryson with a rare condition called neurofibromatosis type 1 (NF1).

Lindsey was not a stranger to NF1. In fact, she has the condition as well. Unlike her son, her tumors are externally forming. 

Doctors began treating Bryson with steroid creams and frequent MRIs to monitor his condition. He was even placed into a targeted clinical study which is seeking to identify more effective therapeutic interventions. 

Moving forward, if his plexiform tumor continues to grow, the Marson family hopes to pursue additional clinical studies. However, they hope that what has been done so far will be helpful.

Regardless, Lindsey continues to raise NF1 awareness. Her goal is to show that people with rare diseases are not that different from everyone else and still deserve respect, care, and consideration.

Understanding Neurofibromatosis type 1 (NF1)

Neurofibromatosis is a rare genetic disorder that causes tumors to form on healthy nerve tissue throughout the nervous system. There are three main forms: NF1, NF2, and schwannomatosis; the latter is the rarest form. NF1 is caused by NF1 gene mutations on chromosome 17. These mutations cause the body to lack neurofibromin, a protein that normally regulates cell growth. While people with NF2 may have symptoms appear later in life, symptoms of NF1 are typically present at birth with additional symptoms appearing in early childhood. Potential symptoms may include:

• Lisch nodules (small benign growths in the irises of the eyes)
• Cafe-au-lait spots (flat brown spots on the skin; freckling in the armpits and groin)
• Neurofibromas (small lumps on or under the skin)
• Increased risk of leukemia, brain tumors, and malignant peripheral nerve sheath tumors
• Bone deformities
• High blood pressure
• Scoliosis
• Macrocephaly (a larger-than-average head size)
• Short stature

There is no cure for NF1. Surgery may be used to remove tumors. Pain medications, physiotherapy, and mental health support may also be used to help those affected.