National Caregivers Month

FAMILIES CARING FOR CHILDREN WITH A RARE DISEASE MAY NEED HELP IN LEARNING ABOUT THE IMPORTANCE OF EARLY DIAGNOSIS AND HAVING A TREATMENT PLAN

National Family Caregivers Month is a time to celebrate the efforts of family caregivers, particularly those helping their loved ones through a challenging medical diagnosis. This is an ideal opportunity to talk about one of the most common inherited neurological disorders in children – neurofibromatosis type 1 (NF1).

NF1 is a rare and debilitating genetic condition caused by mutations in a particular gene. Affecting one in every 3,000 to 4,000 individuals, it can lead to the growth of benign tumors along nerves anywhere in the body, known as plexiform neurofibromas (PNs). The tumors usually begin development in early childhood and as they grow, have a significant impact– potentially leading to disfigurement, functional impairment, airway disfunction, pain, visual impairment, and bladder/bowel dysfunction.

Unfortunately, these PNs aren’t always easy to notice in children with NF1. Sometimes they are located deep inside the body and can’t be seen or felt under the skin. In some cases, the first sign of NF1 may be skin discoloration or a bump under the skin. Learn more about the signs and symptoms of NF1 can allow caregivers to have more informed conversations with their child’s doctor. In addition, identifying the disease early allows a child’s doctor to begin creating an appropriate treatment plan, which is especially important during the COVID-19 pandemic. During the pandemic 79% of people with rare disease have experienced a canceled medical appointment, 51% of those reported the cancelation was initiated by a medical provider.

Dr Julia Meade, Pediatric Oncologist, and family caregiver, Reine, discuss the signs and symptoms that caregivers can watch for as early indicators of NF1 and PNs and why it’s important to get an early diagnosis and treatment plan.

For more information: NF1AndPNInfo.com