Samantha Pearson, a college student, faces the daily realities of living with neurofibromatosis type 1 with plexiform neurofibromas (NF1-PN). Her mother, Michelle Pearson, deals with the daily challenges as they both live with this chronic, genetic disorder that results in tumor growth along nerves. Yet this uncommon condition has changed their lives, leading them to become fierce advocates and public voices for research and awareness around their condition.
Samantha’s diagnosis of NF1-PN early in her life meant she has lived with the disease for four years. She recently took part in a clinical trial for Gomekli (mirdametinib), a medicine that helps shrink tumors. By the end of the trial, Samantha had experienced a stunning 90% shrinkage of her tumors! To everyone’s surprise, she got nearly complete relief from her pain. Having made that journey, she and her mother have been inspired to share their experience of it to help others understand the condition.
Michelle has lived through the hardships of NF1-PN. In the almost ten years since, she has suffered from permanent deafness in her left ear due to a tumor on the auditory nerve. Together, they intend to educate the public about NF1-PN and how it impacts the daily life of those who have it.
Understanding NF1-PN
Neurofibromatosis type 1 with plexiform neurofibromas is a complicated but treatable condition that can appear differently even in an affected family. NF1 can present differently, even among siblings in the same family Dr. Phioanh Leia Nghiemphu describes how NF1 can manifest phenomenon in NF1. Consequently, even when multiple family members have NF1, not all of them will develop NF1-PN.
The disease results in uncontrolled tumors in almost every organ, often resulting in severe disfigurement, pain and loss of function. Dr. Nghiemphu explains that unlike most tumors, these ones grow along nerves, and they can get very large. Consequently, they can cause disfigurement, pain, organ dysfunction from compression, and even numbness or paralysis.
The Pearsons’ journey underscores the extensive toll of living with this debilitating condition. Samantha underwent a successful surgery to remove the tumor from her left femur at an area Salt Lake City hospital. This procedure is just the next step in her long journey of treatment and recovery.
Clinical Trial Success
Samantha’s enrollment in the clinical trial for Gomekli was a watershed moment in her fight against NF1-PN. She described the beginning of the trial as challenging: “The beginning of the trial was rough. It was awful, painful acne rash, nausea/vomiting was the most horrible. I had zero interest in food, and I would take a bite of something and just vomit it back up on the spot.”
By the end of the trial, Samantha exhibited a dramatic decrease in tumor size. She reported an impressive reduction in pain. This success provides enormous motivation that propels her to stay in the fight to increase NF1-PN awareness and support.
“I want others to know that this does not have to define you,” – Samantha Pearson
Advocacy and Inspiration
Samantha and Michelle Pearson are taking their family tragedy and transforming it into fierce advocacy. She and her son are advocating for NF1-PN on Capitol Hill. Their hopes are to encourage others who are going through the same struggles with their story. Michelle emphasized the importance of laughter in coping with their condition: “I would mock her. I don’t mean that in a nasty way but I had to make her laugh. It kind of stinks. Why my kid? Why is this happening? We tried really hard to laugh at everything.”
Their light-hearted approach has resonated with many. Michelle adds humor to their journey: “I know people were staring at us, but the fact of the matter is that everyone who was staring was wishing their mom was just as much of a lunatic as I am and that they were playing it too.”
Samantha’s resilience shines through as she pursues her goal of becoming a certified nursing assistant while overcoming significant obstacles: “I let [this disease] define me for a while, and I was told I was never going to dance again… two years later, after my first surgery, I was back dancing on my high school dance team.”
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