Michelle Pearson recounted to Healthline the moment of fear when she received a note from the doctor. The note specified a condition that could not be treated locally in Las Vegas, urging her instead to contact Shriners Children's Hospital in Salt Lake City. The diagnosis for her daughter, Samantha, was likely neurofibromatosis type 1 (NF1) complicated by plexiform neurofibromas (PN), a chronic disorder characterized by tumor growth along nerves, leading to intense pain, mobility challenges, and potential disfigurement.

Shortly thereafter, an orthopedic examination revealed a startling finding: X-rays showed 27 tumors from Samantha’s waist down. "The orthopedic surgeon pointed out the tumor in my femur and knee," Samantha recalled, "and advised us to consult a specialist."

Initially, her parents hoped the pain Samantha experienced might resolve without medical intervention. However, her persistent discomfort prompted a visit to the doctor. This issue first came to light in July 2015 when Samantha, participating in a camp activity, suffered a knee injury that left her unable to stand.

Though NF1 is typically not fatal, individuals affected by this condition usually maintain a normal life expectancy. Surgical removal of tumors can be quite painful and carries a rare risk of cancer development, specifically malignant peripheral nerve sheath tumors (MPNST).

"The growth of these tumors on nerves can lead to major complications like disfigurement, pain, and impaired organ function due to compression, as well as numbness and paralysis," explained Dr. Phioanh Leia Nghiemphu, a clinical neurology professor and director of the Neurofibromatosis Program at UCLA.

While Michelle was relieved her sons did not inherit the condition, witnessing Samantha's struggle was challenging. Neither she nor her sons showed symptoms, and there was no known family history of the disorder. Michelle herself had experienced partial deafness on the left side, attributed later to a tumor near her ear.

A diagnosis, based on visible markers such as neurofibromas and skin freckling, confirmed that both Samantha and Michelle shared the same condition. Dr. Nghiemphu noted that while NF1 is genetic, about half of those diagnosed have no familial link. "Manifestations of NF1 can vary significantly within a single family," she added.

The doctor quickly identified Samantha’s condition as neurofibromas and traced it back to Michelle. However, finding specialized care proved difficult, with a recommended doctor facing a three-year waiting list. Undeterred, Michelle was determined to secure the best care possible for Samantha. Her persistence and advocacy paid off, leading to Samantha's treatment and eventual participation in a clinical trial.

Ultimately, Michelle's unwavering determination ensured that her daughter received the necessary care and support, demonstrating the incredible lengths a mother will go to for her child.