Friday, December 14, 2007

Neurofibromatosis (NF) is a genetic condition causing benign tumors (neurofibromas) to grow along certain types of nerves and, in addition, it can affect the development of bones or skin. There are several variants of the disease but type 1 and type 2 NF account for the vast majority of cases.

The disease manifestations can vary from very mild to severe. Major symptoms include growths on and under the skin; skin pigmentations called café au lait spots in type 1; acoustic nerve tumors and consequent hearing loss in type 2. Growths can affect nearly all parts of the body, and pressure on nearby structures can cause a wide variety of complications. There is a small risk that the tumors transform into malignant cancerous lesions.

NF is one of the most common single-gene human diseases; around 1 in 2,500-4,000 live births are affected by NF-1, whereas NF-2 occurs in about 1 in 50,000-120,000. Both type 1 and 2 are autosomal dominant conditions, meaning that only one copy of the mutated gene need be inherited to pass the disorder. A child of a parent with neurofibromatosis and an unaffected parent will have a 50% chance of inheriting the disorder. The gene responsible for NF-1 and possibly NF-2 is thought to function as a tumor suppressor gene.

In most cases of neurofibromatosis 1, patients can live normal and productive lives. In about 25-40% of patients there is an associated learning disability with or without ADHD. In some cases of neurofibromatosis 2, the damage to nearby vital structures, such as the cranial nerves and the brainstem, can be life-threatening. When tumors are causing pain or disfiguration, surgery is thus far the only proven beneficial treatment option.

Reggie Bibbs is a 43-year-old-man living in Houston, Texas. Mr Bibbs was born with a genetic disease called neurofibromatosis (NF), which causes him to develop tumors on his body (see infobox on the right). NF can be a subtle disease, but in Bibbs’ case it has left him with a disfigured face and deformed leg. But he is happy with the way he looks, and doesn’t want to change his appearance to please other people. He has launched a successful campaign entitled “Just Ask”, and that’s just what Wikinews did in a video-interview.

The interview was prepared by Wikinews reporter Michaël Laurent with the help of Bertalan Meskó (who has a popular genetics and web 2.0 blog). Their questions were sent to a close friend of Mr. Bibbs, Lou Congelio, who kindly conducted the interview.

Contents

  • 1 Infobox: What is neurofibromatosis?
  • 2 The interview
    • 2.1 On neurofibromatosis
    • 2.2 Growing up
    • 2.3 A head to toe body tour
    • 2.4 The daily life of Reggie Bibbs
    • 2.5 Raising awareness and his campaign
  • 3 Sources
  • 4 External links
 This exclusive interview features first-hand journalism by a Wikinews reporter. See the collaboration page for more details.