Michelle Hirsch Donovan : Taking Control of Neurofibromatosis Through Consumer Action

Author: CDMRP: Consumer Involvement article

Published On: 05/28/2018

Riley Donovan was born prematurely, but seemingly healthy, at 36 weeks. She had low muscle tone, called hypotonia, but the reason for this was unknown. Riley received physical and occupational therapy from 3 months to 3 years of age to improve her muscle tone. Riley’s mother, Michelle, still remembers the first day that Riley walked; she was 20 months of age, and it was if she had just finished a marathon! However, between Riley’s 4th and 5th birthdays, Michelle started to notice some concerning traits. Riley started to show structural abnormalities within her right lip and cheek, and she had several light brown pigmentation spots, known as café au lait spots, which can be indicative of neurofibromatosis (NF) type 1 (NF1). As a pathologist, Michelle had learned about NF in medical school and was worried, but hoped that she was wrong. Michelle presented these symptoms to Riley’s pediatrician, who agreed with her fears. After clinical testing, Riley was diagnosed with the genetic disorder NF1, which, in hindsight, explained her low muscle tone at such a young age. One of the hallmarks of NF1 is the presence of benign but infiltrative tumors that are difficult to treat, called plexiform neurofibromas. Riley had her first magnetic resonance imaging test at 5 years of age and was found to have three of these tumors in her head and neck.

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