Neurofibromatosis (NF-1): Terrifying tumour growth over the whole body

April 14, 2024 – There have recently been several media  publications along the lines like “Mom with ‘one-of-a-kind’ disease that causes tumors to grow over whole body terrified of dying alone” referring to a female patients out from the Jamaicas suffering from an extreme phenotypic form of the rare disease Neurofibromatosis (NF-1). The female patient concerned, Madam Charmaine Sahadeo, 42, from Chaguanas, Trinidad, is battling the rare condition of Neurofibromatosis (NF-1) which has caused tumours to grow on her scalp, in her mouth and across the rest of her body.

First of all, we should respect the courage of Madam Sahadeo for her courage to openly present her individual case/destiny around this terrifying and extremely rare disease. And secondly, we may want to learn what we talk about. Thus, Neurofibromatosis type I (NF-1), or von Recklinghausen Syndrome, is a complex multi-system human disorder caused by the mutation in the neurofibromin 1 gene (NF-1), a gene on chromosome 17 that is responsible for production of a protein (neurofibromin) which is needed for normal function in many human cell types. NF-1 causes tumors along the nervous system which can grow anywhere on the body. NF-1 is one of the most common genetic disorders and is not limited to any person’s ethnicity or sex for that matter. NF-1 is an autosomal dominant disorder, which means that mutation or deletion of one copy (i.e., allele) of the NF-1 gene is sufficient for the development of NF-1, although presentation varies widely and is often different even between relatives affected by NF-1. Thus, the many symptoms of NF-1 may include disfiguring cutaneous neurofibromas (CNF), café au lait pigment spots, plexiform neurofibromas (PN), skeletal defects, optic nerve gliomas, life-threatening malignant peripheral nerve sheath tumors (MPNST), pheochromocytoma, attention deficits, learning deficits and other cognitive disabilities.

In the case of Madam Sahadeo, we are talking about potentially dangerous tumours to grow all over her body, including her scalp, arms, legs, breasts, buttocks and genital area. She  struggles to breathe, eat, talk and walk due to her disease  and is terrified of dying alone as they (the tumours all over her body) could impact her ability to call for help. These terrible growths are making everyday life very hard for Madam Sahadeo; A cluster of tumors is almost completely blocking her nose, impacting her ability to breathe normally.