My daughter has Neurofibromatosis Type I. NF1 is a genetic, chronic, neurological disorder that causes benign tumors (neurofibromas) to grow from the nerves all over her body. It also can cause a long list of other complications including bone and growth deformities, scoliosis, learning disabilities, and any secondary issues related to the neurofibromas invading her body.
My daughter was diagnosed at the age of five because her pediatrician had been watching the formation of several café au lait spots on her body. These are large tan freckles and several had become quite large by the time she was five. We were sent for genetic testing and, sure enough, she received the NF1 diagnosis. Although it is technically a genetic disorder, neither I nor her father appear to have the gene so her gene spontaneously mutated as she was developing during my pregnancy.
My daughter is very lucky. Her case is thankfully mild. She has had no learning issues and while she developed severe scoliosis that needed to be corrected with surgery she has had no other growth issues. None of the neurofibromas are visible necessitating removal and a recent MRI scan showed none in her brain. She has a history of seizures but this has been managed effectively with medication and her neurologist feels she will “grow out of them” soon. Yes, she is medically complicated, but she is learning, active, and thriving. Yes, she will have to make some difficult decisions later in life and this will always be something she will need to manage both physically and emotionally, but she’s strong and brave and ready.
Many people with NF1 (and the much more serious disorder, NF2) are not as lucky. They live with chronic pain that cannot be managed effectively with medication. They endure multiple surgeries to correct growth deformities or to remove neurofibromas that grow on their faces, their organs, or in their brains. They have more physical side effects that cannot be easily hidden by clothing or makeup. They have vision or hearing issues. They struggle to learn in school and face an uncertain future as they manage significant learning disabilities. As of now, there is no cure for NF.
The Children’s Tumor Foundation, however, is trying to help. Their stated mission is to drive research, expand knowledge, and advance care for the NF community. They also hope to one day end NF. NF effects 1 in every 3000 births making it one of the most common genetic disorders that you’ve never heard of. The foundation is working every day to fund several promising medical trials that may lead to the end of NF. They may be able to find a way to stop the neurofibromas from growing inside of my daughter’s body. They may find a way to assure that she will not pass this on to her children. They may find a way to help those living with chronic pain and physical deformities live easier. I have hope and I have faith in them and their researchers.
For more information, visit their website: www.ctf.org