Make NF Visible
May 17th is World NF Day! So you bet I'm going to bring more awareness by sharing a more of our story. Patients like my son JJ, whose NF is invisible, struggle to make others understand. Likewise, patients with visible signs of NF struggle to be seen as more than just their NF. Make NF Visible is about seeing NF, and seeing the person living with it.
Just over 10 months ago JJ was diagnosed with NF1. Our journey started in the fall of 2019 when his wonderful pediatrician, Dr. Nicole Baldwin, noticed a significant amount of cafe au lait spots on his body. Between those and several other key markers of NF we were referred to the Genetics team at Cincinnati Children's Hospital Medical Center. After meeting the team we were tested and off they went to the labs in February 2020. Enter COVID, a need to retest, and notable delays as labs understandably were adjusting to requirements of the pandemic.
July 30, 2020 we received confirmation of JJ's NF1 diagnosis. Joe and I do not have NF. JJ quite simply has a spontaneous mutation of that gene. This occurs in 50% of NF cases.
Neurofibromatosis, or NF, is a genetic disorder that can cause tumors to grow in nerves throughout the body. NF occurs in 1 of every 3,000 people, affecting more than 2.5 million people around the world. So why don’t more people know about it?
Because there is no one way to define NF. Just like there is no one way to define a person living with NF.
Shortly after his confirmed diagnosis, we received word that my son qualified for a new study funded by the Department of Defense. We jumped at the opportunity to learn more about his case, while also providing the opportunity for the medical field to learn more about the unique ways NF presents and responds to certain medications. This particular student includes magnetic stimulation of the brain (TMS), IQ testing, blood draws, physical, and MRI. All things we likely would not have immediately had access to otherwise. I cannot stress enough what a blessing this study and team has been to our family.
Fundraisers through Children's Tumor Foundation are imperative to studies like this as we continue to learn, grow, and inform about Neurofibromatosis.
We are thrilled that the annual Shine a Light NF Walk will be live, with it occurring on September 25 here in Cincinnati. Our fundraising page is back up and running for this fall’s walk at https://join.CTF.org/JJ . While monetary donations are great, we are also hoping to continue to bring more awareness to NF. Ask questions. Send prayers. Share his journey. We welcome it all.
