Neurofibromatosis: my diagnosis, not my definition

The story of Jesse

When Jesse was born, we did not know of the challenges he would face in his life. By the time he was 3 months old, brown, birthmark-type patches began to form on his otherwise perfect skin. His pediatrician noticed these cafe au lait spots and referred him for a neurology consult. Jesse was diagnosed with Neurofibromatosis, Type 1 at the age of 6 months, when additional markers became evident. NF can be inherited from a parent or can be a spontaneous mutation, as in Jesse’s case. Our family has no previous history of this progressive tumor disorder, which affects one in 3000 births.

Although Jesse’s diagnosis blind-sided us, we have taken what little control there is available to us by becoming proactive for the cause. NF is the most common disorder that you have never heard of, but we’ve made it our mission to make others aware, to actively fundraise and to be an integral part of the NF community. If we are successful, Jesse will never feel alone or different because he will always remember being surrounded and supported by a larger community of people who share his journey.

NF 1 is characterized by multiple cafe-au-lait spots and neurofibromas on or under the skin. Enlargement and deformation of bones and curvature of the spine (scoliosis) may also occur. Occasionally, tumors may develop in the brain, on cranial nerves, or on the spinal cord. About 50% of people with NF1 also have learning disabilities.

Jesse has many CALs and is beginning to notice multiple neurofibromas on and under his skin. He has overgrowth in his right tibia, which has resulted in three surgeries to try to correct for a progressively increasing discrepancy in the lengths of his two legs. He also has a tumor on the left optic nerve in his brain, which extends to the chiasm between the two nerves. He has multiple spinal cord tumors which are being monitored and a plexiform tumor in his right ankle. In addition to the physical manifestations of NF, Jesse has to work much harder than other kids his age because of the learning challenges that he faces.

Jesse will always have to be concerned about tumor growth throughout his body. He will always have to see multiple specialists to monitor his condition, for which no effective treatments currently exist. Despite this reality, he continues to be positive and proactive in his approach to the future with optimism and hope. The “million dollar smile,” with which Jesse is most often seen, says it all. He is not defined by his diagnosis, but he is aware that it is and will always be a part of his identity.

Connect with other people living with Neurofibromatosis – RareConnect.org