An overview of neurofibromatosis type 1 and how to diagnose the rare disorder.

James Cassidy, MD, PhD, Chief Medical Officer at SpringWorks Therapeutics, discusses the typical prognosis for neurofibromatosis type 1 (NF1).

NF1 is a genetic disorder due to mutations in the NF1 gene that leads to a plethora of symptoms including cutaneous neurofibromas, ‘cafe au lait’ spots, plexiform neurofibromas, motor dysfunction, airway dysfunction, bowel/bladder dysfunction, and disfigurement. Learning difficulties, visual impairment, twisting and curvature of the spine, hypertension, and epilepsy may also develop in NF1 patients.

As Dr. Cassidy explains, symptoms of NF1 tend to worsen with age. Plexiform neurofibromas, for example, become more common as patients age and, as a result, older NF1 patients tend to experience more pain, motor dysfunction, bowel/bladder dysfunction, and disfigurement. Dr. Cassidy also notes that in extremely rare cases, neurofibromas can become malignant and the mortality rate of these tumors is quite high. Non-malignant neurofibromas are non-lethal unless they are affecting a critical group of nerves.

At 6 months old, Gabe was diagnosed with Neurofibromatosis Type 1, and later found out he also had ADHD, dyslexia, dysgraphia and autism. His journey at Children’s National Hospital began when he was a pre-teen from Upstate New York in need of specialized neuro-psych care and analysis. With the right team and accommodations, Gabe was able to accomplish so much. Learn more about Gabe's story.