According to a story from StokeonTrentLive, 34-year-old mother Rachel Potter is living with thousands of tumors thanks to a rare genetic disorder called neurofibromatosis type 1 (NF1). Though they aren’t cancerous, these tumors can appear suddenly and are seriously painful. Rachel takes up to seven medicines daily in order to manage her pain.
“They just appear out of nowhere – sometimes I feel an itch for a couple of days before and sometimes not. I have thousands of them just on my back. It’s very uncomfortable – it’s like a stabbing pain all over. I rarely get much sleep.” – Rachel
The disease also increases Rachel’s risk of cancer. The tumors appear along neuron pathways, and Rachel has them along her spine, head, and brain, along with many other areas. She was diagnosed at five years old, and the tumors began to appear when she hit puberty at around 12 years old. Rachel also experienced a major increase in the number of tumors during her pregnancy. Due to her increased risk of cancer, Rachel avoids too much sun exposure. She’s had to have tumors removed from her mouth and her vision in her right eye is impaired because of a tumor that has come up nearby.
Thankfully, Rachel has the support of her husband Daniel. He acts as a caregiver both to her and to their seven-year-0ld son, who also has the disorder. Rachel and Daniel got together after being friends in college:
“Daniel asked about the bumps on my face about a month after we met and I said they were tumors, then he went and researched it – he just wasn’t bothered by it the way other people can be…he’s very encouraging and tries to help me not to feel ashamed of myself, but it’s very hard.”
With no history of the illness in her family, Rachel believes the mutation originated with her. She’s been very open with her son about the condition that they share and isn’t hesitant about explaining neurofibromatosis to others:
“We want people to ask us about it, but in a kind way.”
About Neurofibromatosis Type 1
Neurofibromatosis type 1 (NF1) is a genetic disorder that has an impact on a number of the human body’s functional systems. NF1 is caused by a mutation of a gene located on chromosome 17 which is responsible for the production of the protein neurofibromin. This mutation can be heritable, but about half of cases are the result of spontaneous mutation. Symptoms of NF1 include epilepsy, tumors affecting the nervous system and skin, spots on the skin, scoliosis and other skeletal deformations, learning and mental impairment, and vision disorders. People with the disorder also have greater risk of cardiovascular disease and cancer compared to unaffected people. The severity of symptoms can vary greatly; some people live fairly typical lives, whereas others are faced with serious quality of life challenges. There is no cure, and treatment generally involves managing serious symptoms and complications as they appear. To learn more about NF1, click here.
