In many medical journeys, getting a diagnosis is like finding a signpost when you’re lost: It helps you figure out where you are and allows you to chart a course through symptoms and treatment on your way to your best-possible health.
Being diagnosed with neurofibromatosis, though, is more like looking up to discover the familiar path you’ve been walking branches off in a bunch of different directions and each path leads into fog so you can’t see what lies ahead.
Neurofibromatosis is a set of genetic disorders that commonly cause tumors to grow on nerves in and on the body. The thing is, NF hits everyone differently.
In its most common form, neurofibromatosis might show itself in childhood as cafe-au-lait spots or emerge in the teen years or adulthood with tumors under the skin or nodules in the eye’s iris, which don’t affect vision.
Or tumors might grow on the optic nerve, which may or may not harm eyesight.
Some people may face many symptoms and complications while others experience few. Though people generally will experience more tumors and complications as they age, the progression is slow in some and rapid in others — but may unexpectedly change pace, with tumors suddenly growing rapidly or the growth slowing to a stop.
Usually the tumors are benign, but occasionally they become cancerous. Often, they can be removed, but sometimes their location makes surgery more dangerous than the tumor and its side effects.
Other, less common, neurofibromatosis disorders cause specific types of tumors to develop on the nerves of the brain and spinal cord, potentially impairing sight, hearing, sensation and mobility.
Noelle St. Germain has been walking the uncertain, branching path of neurofibromatosis since she was a toddler. Now a teacher, she sees it as her responsibility to educate those around her by talking about her NF, explaining to her students about her tumors.
On Saturday, June 3, the Bolingbrook woman will join with NF sufferers and their supporters from throughout the region in the Great Steps 4NF Walk in Naperville to spread awareness about neurofibromatosis and raise money for Neurofibromatosis Midwest.
The St. Charles-based agency works in Illinois, Indiana, Wisconsin, Iowa, Kentucky and the eastern part of Missouri, partnering with health care facilities to create 12 NF clinics including Amita Health facilities in Wheaton and Hoffman Estates and at Lurie Children’s Hospital and the University of Chicago Hospital in Chicago.
Neurofibromatosis Midwest offers resources for medical professionals and for patients as well as funding research into treatments and a cure. It also sponsors children with NF so they can attend Camp New Friends in West Virginia and have a summer camp experience surrounded by other children with neurofibromatosis.
St. Germain knows others with NF walk more challenging paths than…