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When Albie was born, his mom, Charlotte, said that he was “absolutely fine. Everything was fine for about two weeks.”
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As a father of two young children, Donnan recalls being afraid of what the future would hold prior to his diagnosis.
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Married with a newborn son, Ruthie was scared to learn that PNH was a life-threatening illness that at the time had no approved treatment.
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At only three months old, Evie's parents were told that her case was severe and that there were no approved or effective treatment options.
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Although physical challenges required Liz, her husband, and their children to adjust their lives in many ways, she doesn't let her disease hold her back.
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Make a difference for families like Tristan's

Tristan's parents experienced a whirlwind of emotions and fear after learning their 5-year-old son had such a rare and serious disease.

NF1 REAL STORIES

Meet Kendall

Diagnosed with NF1 at 10 weeks old

When Kendall was born, her mom, Stephanie, knew something was different about her. “Being a nurse, everyone was just telling me I was being overly concerned,” Stephanie says. “But there were just little details that I noticed as a mom, as any mom would, that just didn’t seem right."

At 10 weeks old, and after a period of uncertainty surrounding her condition, doctors diagnosed Kendall with Neurofibromatosis Type 1 (NF1).

Neurofibromatosis (NF) is a rare genetic disorder that involves the development of tumors that may affect the brain, spinal cord, and nerves. The most common type of NF is neurofibromatosis type 1 (NF1).¹ NF1 is commonly recognized in early childhood and is a lifelong progressive condition that affects all types of people, regardless of gender or ethnicity.^2,3,4

During the first year following Kendall’s diagnosis, she underwent multiple surgeries and had a feeding tube put in. Today, Stephanie continues to work with Kendall’s doctors to manage her disease and care, including routine testing and monitoring.

Today, Kendall, doesn’t want to be defined by her NF1 diagnosis: “Don’t let NF1 stop you. And just because you have NF doesn’t mean you’re not normal,” she says. Kendall loves singing, music and swimming, and studying one of her favorite subjects in school, science.

References:

Tamura R. Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis. Int J Mol Sci. 2021.22.5850
Ly K, Blakeley JO. The diagnosis and management of neurofibromatosis type 1. Med Clin North Am. 2019 Nov;103(6):1035-054. https://pubmed.ncbi.nlm.nih.gov/31582003/
Tonsgard, JH. Clinical Manifestations and Management of Neurofibromatosis Type 1. Semin Pediatr Neurol. 2006;13(1):2-7.
Hersh J, et al. Health Supervision for Children With Neurofibromatosis. American Academy of Pediatrics. 2008: Volume 121, Number 3