I was diagnosed with neurofibromatosis type 2 (NF2) in March 2002 at age six months. I was brought to medical attention because my eyes didn’t focus the way eyes typically focus. My family took me to a retinal surgeon at Cleveland Clinic Cole Eye Institute. The surgeon said I had a retinal hamartoma, a possible NF2-related tumor. During the next months I had multiple surgeries and a retinal detachment which resulted in my being blind in my right eye. Following up on the possibility that I had NF2, the retinal surgeon referred us to a pediatric neurologist with a background in NF at the Cleveland Clinic Neurological Institute. The doctor noted I had several “lumps” on my skin, and I underwent a brain MRI that same month which was clean. In June 2002, a punch biopsy of a scalp lesion showed that it was a plexiform schwannoma, common with NF. Although the brain tumors typical of NF2 were not yet seen on the scans, my neurologist diagnosed me based on my skin and eye findings. That early diagnosis allowed me to have the advantage of being closely monitored.
No one ever wants to hear that they or someone they love has a rare disease that has no cure. I’ve been blessed to have the courage and strength to jump over the hurdles with which NF2 has challenged me. Also, I’m blessed to have an amazing medical team at Cleveland Clinic who provide excellent care and refer me for opinions to NF experts at other medical facilities. Without the support of my family and friends I don’t know how I would get through every appointment, scan, or infusion, as well as my multiple surgeries and frequent hospital admissions.
NF2 has caused many challenges over the past 20 years. I’ve lost vision in my right eye. I’ve had various surgeries for spinal cord tumors and a nerve graft in one arm. When I was eleven, my spine and brain tumors grew aggressively, and I needed lumbar spine surgery in 2012 and cervical spine surgery in 2013. These surgeries have affected my gait, endurance, and strength. Recent brain surgery affected my equilibrium. I have to use a cochlear implant and hearing aid and my remaining hearing is at risk. These physical challenges have affected me mentally and emotionally.
I’ve had to deal with many difficult situations and be part of a lot of scary, frustrating, and sad conversations. NF2 is very hard to live with. I can’t drive or play sports. I’ve had to change my career goals. I consider every day, birthday, family event, minor victory, or family vacation as a gift. I’ve learned to not dwell on the bad things that happen and accept that not everything goes our way. It’s important to be thankful for what we have and enjoy the moment.
Seth's Story of NF2 also appeared in the Fall 2022 issue of NF News.
