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.
If you goWhat: Great Steps 4 NF
Why: Proceeds benefit Neurofibromatosis Midwest
When: Registration at 8:30 a.m. Saturday, June 3; walk at 10 a.m.
Where: Riverwalk Grand Pavilion, 912 Sindt Court, Naperville
Cost: $20 for adults in advance, $25 at the walk; $12 for ages 4 to 10, free for younger children; fundraising encouraged
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 hers.
Today she tells us about her neurofibromatosis experience and how she supports NF Midwest to make the journey easier for her NF community.
Noelle St. Germain
Imagine, if you will, having a healthy baby but finding out your child has a progressive disorder that is unpredictable. Now, imagine you are that child.
That is the situation my parents and myself found ourselves in shortly after I was born, and it's why I participate in the Great Steps 4 NF Walk in Naperville.
My name is Noelle St. Germain. I reside in Bolingbrook and am a third-grade teacher in a neighboring school district. Having been diagnosed with NF1 in 1976 at 20 months old and being the only person in my family to have it, I walk to bring more attention to this genetic disorder.
Forty years later, there are still many people, including medical professionals, who have never heard of this disorder, even though it affects roughly one in 3,000 people. To make a difference, to raise money for research and assisting families, and to educate the general population, walks like Great Steps must take place.
In the past few years, I have become much more outspoken about my neurofibromatosis. I let people know up front what I have, including my students. I don't want anyone to be afraid of me because I look different from the general population.
For many, neurofibromatosis is a painful disfiguring disorder. Others go their entire life and never suffer.
That's the thing about NF, the way it affects people is so unpredictable. Neurofibromas tumors, which can occur internally or externally, are what affect me the most. I also suffer from back pain, scoliosis, nerve pain and migraines.
Other side effects of NF include bone deformities, learning disabilities, high blood pressure, optic gliomas, deafness and macrocephaly.
In some cases, a tumor may become cancerous, so that is an issue as well. So far, I have been quite lucky and haven't had to deal with those issues, but that doesn't mean I don't think about those who do suffer.
Those of us affected by NF consider ourselves part of a community. We all want to see advances in treatment and, one day, a cure for this disorder. For this to happen, scientists must continue to do research. Unfortunately, research on a genetic disorder such as NF requires a lot of money. It's hard to get that money when other diseases and disorders have better funding and receive the vast majority of the public's attention.
So I walk, I share my story and I speak out regarding the importance of funding.
If you want to help make a difference, please consider donating to the wonderful organization Neurofibromatosis Midwest.
Or better yet, come join me and others on Saturday, June 3, in Naperville. To donate to the walk please visit nfmidwest.rallybound.org/Great-Steps-4NF-Naperville-Walk. You can make a general donation or you can choose to donate to my team, Noey's Nerds.