Not all birthmarks are equal.
The first sign of neurofibromatosis — or NF — is “a distinctive marking on the skin, something that looks like a birthmark. But what lies beneath can cause debilitating symptoms and damage to vital structures in the body. This according to a report by WGNTV.
Shahan and Erin Mohideen have three children, Max, Maria, and Sam. Three-year-old Sam has NF.
According to his father, “‘Sam is a ball of energy but he is also the happiest, kindest third child that I know. He loves his family. He loves being in the thick of it. He is fearless, and he is just fun.'”
Dr. Robert Listernick, an Academic General Pediatrician with Lurie Children’s Hospital, explained how to recognize the first sign of the condition: “In young children, usually the presenting sign is birthmarks that we call ‘café au lait’ spots, coffee with milk … We call them birthmarks, but they are often not present at birth but develop in the first several years of life.”
Erin, Sam’s mom, thought Sam just had “café au lait” spots. She thought they just distinguished Sam from other children.
Cleveland Clinic provides families with information about variations in these birthmarks. They recommend that “if you notice your child has more than six café-au-lait spots on their body, visit your child’s healthcare provider.”
According to WGNTV, “What looks like a birthmark is an indication of a deeper problem — a tumor that runs all the way down Sam’s arm to the base of his thumb. The benign lesion — called a plexiform neurofibroma — arises from the nerve covering. It’s too complex to be removed.”
The good news is that while the world was struggling in 2020 with the pandemic, there was a breakthrough drug approved by the FDA for treating NF.
“Patients with neurofibromatosis lack a gene that suppresses tumor growth. A type of drug known as a biologic, Selumetinib, can prevent growth and actually shrink lesions while taking away the pain.”
Dr. Listernick stated that the new treatment will be “a life changer for many patients with NF1.”
Sam’s father exudes hope for Sam’s future. “Knowing that that is an option and knowing that is in our back pocket in case something goes wrong with Sam is great,” he said.
“Right now, the soon-to-be preschooler is carefree and not hindered by his condition,” according to the report. Sam’s father adds, “Knowing and showing his resilience and zest for life in battling through this I think is important to show.”