At Rollie’s 15 month appointment in 2019, we saw a different doctor than his primary. When she asked me if there were any concerns, I just mentioned that it seemed like he was behind on his talking and walking. Since we were already seeing an occupational therapist for gross motor delays, I was just looking for additional therapy for his speech delays. I also mentioned being concerned about how consistently he had his mouth open with drooling, even when he wasn’t teething. She nodded and then asked me about his birthmarks. He has a number of large birthmarks on his torso and smaller ones all over his body. All said and done, she counted 16 different birth marks on his skin, also called cafe-au-lait (CAL) marks. She told us that this could be a marker for a genetic disorder called neurofibromatosis type 1 (NF1). Thats a big word for a big diagnosis. She also said it could explain some if his delays. She put in an order for genetic testing and an appointment with pediatric neurology.
A little background on NF1. Neurofibromatosis is a genetic disorder that causes the uncontrolled growth of tumor cells, usually benign, in the body. The tumors can grow anywhere and at anytime. Sometimes they are inside the body, sometimes they show up on the skin. It is the most prevalent genetic disorder in the world, but it’s rarely known about because a lot of people don’t even show symptoms.
I went home from that appointment a bit overwhelmed. I did exactly what you are not supposed to do. I looked it up on Google. Google really just shows you the worst case scenarios. I freaked out a little bit but knew that I couldn’t make any harsh decisions about what it could be with out an actually diagnosis. Appointments were made. Cheeks swabbed.
His genetic diagnosis came in late October. It is a random mutation on the gene. Pat and myself do not carry it. Fifty percent of people that have NF get it from a parent. The other fifty percent are a random genetic mutation. This was followed up with a baseline MRI. That scan showed a tumor in his back by his neck. An appointment at the American Family Children’s Hospital gave us more information about his diagnosis. They assured us that most children with NF lead a normal life. They would like us back for yearly appointments and a follow up MRI in 12 months to check the status of the tumor in his back. In 2022, his tumor on his spine hasn’t grown anymore than expected and was declared stable. Though we still have annual eye exams and appointments with the amazing team at the Neurocutaneous Disorders Clinic, they have told us our next MRI will be in five years.
Roland’s NF story is just taking our life on a different path than what we expected. He is our NF hero!
What is Neurofibromatosis?
From the NFMidwest website:
Neurofibromatosis (NF) is a complex, often devastating set of genetic disorders with possible complications throughout the entire body that may also hold the genetic mystery to a host of other human ailments. Affecting approximately 1 in 2,500 people or 2 million people worldwide, it appears equally in all races, ethnic groups and both sexes.
A common complication for a person with NF is the growth of tumors on the nerves anywhere in and on the body. There are currently several separate, distinct disorders classified as neurofibromatosis. This includes neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. Others are also being identified.
What are we doing?
This is our third year participating in Walk for NF – Madison with Neurofibromatosis Midwest. NF Midwest is a nonprofit 501(c)3 organization that supports families who have neurofibromatosis through education, resources, research funding, scholarships, and camp across 6 states in the midwest (Wisconsin, Illinois, Missouri, Indiana, Iowa, and Kentucky).
Thank you everyone who has donated the last two years. We have raised almost $6,000 for NF Midwest and we couldn’t do it without you!
After two years of walks being (mostly) virtual, they are back to in person this year. Madison’s walk will be taking place on May 21st in Middleton, WI. The starting line will be on the Capital Brewery grounds.
Besides raising money for NF, it’s also a great place to pick up a beer!
Please help support my team, Strollin’ for Roland, and the mission of NF Midwest by making a contribution to one of our team members or joining our team! We set a lofty goal of $7,500 this year! Please be sure to share this page with your family and friends. Every dollar we raise will advance NF Midwest’s great cause!
My personal fundraising goal this year is $5,000.
Come walk with us on May 21st! If you can’t make it, any dollar amount is appreciated!
Other Organizations We Support
Children’s Tumor Foundation has a mission to drive research, expand knowledge, and advance care for the NF community.
NF North Central supports swine research right here at University of Wisconsin – Madison!