Living with Neurofibromatosis type 1 in Brazil: Stories of Uncertainty, Strength, and Adaptation

What is it about?

Neurofibromatosis type 1 (NF1) is a rare genetic condition with an estimated prevalence of 1 in 3,000 live births. It can affect the skin, bones, and nervous system. Symptoms vary widely—from a few skin spots to multiple tumors—and its progression is unpredictable. To better understand how people live with NF1, we conducted a qualitative study involving 38 Brazilian adults diagnosed with the condition. Participants answered open-ended questions about how NF1 has impacted their lives. Many shared experiences of fear and emotional distress related to the uncertainty of symptoms and future health outcomes. Common concerns included having children, the risk of passing on the condition, and the emotional challenges of parenting a child with NF1. Participants also reported pain, stigma, and difficulties in accessing adequate healthcare. Some coped through strategies such as avoidance or faith, while others demonstrated resilience in facing a lifelong condition with no known cure.

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Photo by TopSphere Media on Unsplash

Photo by TopSphere Media on Unsplash

Why is it important?

Although the medical features of NF1 are relatively well documented, less is known about how individuals emotionally experience and manage the condition. In Brazil, as in many parts of the world, people living with NF1 often report feeling isolated, uncertain, and lacking access to reliable information and support. Understanding how individuals navigate life with NF1 sheds light on the emotional and psychological toll of the condition. This knowledge is essential for shaping healthcare practices that go beyond clinical treatment, offering emotional support and empowering individuals to adapt, cope, and maintain their quality of life.

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