These articles, written by Dr. Scott Gibbs, appeared as regular health columns in the Southeast Missourian newspaper from 1999 to 2002.
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Elephant Man's Real Disease

   In 1993 I was an honorary house officer at the National Hospital for Neurological Disease and Stroke at Queen’s Square in London.  While I was there I visited the Royal London Hospital where the skeletal remains of Mr. Joseph Cary Merick have been kept.  Mr. Merick is a relatively famous Victorian who is probably better known as the elephant man.  Sir Frederick Treves, a medical doctor, “discovered” Merick in a carnival sideshow and he cared for him until his death in 1890.  The record of this doctor/patient relationship has provoked some significant discussion about medical ethics, patients’ rights and human dignity.  For many years it was thought that Mr. Merick had suffered from a severe form of neurofibromatosis (NF).  However, others theorized that he might have instead suffered from a much rarer disorder called proteus syndrome. In 1986, Dr. Michael Cohen at the University of Halifax in Nova Scotia, Canada proposed that Mr. Merick had proteus syndrome. The radiologists at the Royal London Hospital where Merick lived and his bones remain have now substantiated this theory.  By taking plain film radiographs and CT scans of Merick’s skull they were able to reveal characteristic findings of this non-inherited disease caused by malfunctions in cell growth.  So, Mr. Merick did not, in fact, have neurofibromatosis. 

  Neurofibromatosis is a genetic disorder of the nervous system that causes tumors to form on nerves anywhere in the body.  NF was first referred to in the medical literature by Dr. Friedrich von Recklinghausen and consequently has also come to be known as von Recklinghausen’s disease.  This disorder may affect any ethnic group or race and it affects both sexes equally.  Even though this is one of the most common genetic disorders in the United States, not many people know of it. 

  NF is an autosomal dominant genetic condition meaning that it is not contagious and only 50% of those affected with NF have a prior family history.  Also, if a parent does not have NF he or she cannot pass it on to children.  NF is a nervous system disorder that can affect the body in various ways, depending upon the type of NF.  There are two genetically distinct forms often referred to as NF-1 and NF-2.  NF-1 primarily affects the peripheral nervous system, which may result in a multitude of small bumps or tumors in the small nerves within the skin.  NF-2 primarily affects the central nervous system and may not have any outward manifestations. 

  NF-2 is also sometimes know as bilateral acoustic NF since it is associated with tumors of the acoustic nerves and this is a much rarer condition occurring in only one out of 40 thousand births.  Patients with this condition may have other tumors that involve cranial or spinal nerves but tumors affecting the acoustic nerves are the hallmark for this particular form of NF.  People with this condition may begin developing hearing loss beginning in their teens or early twenties and this is often first noticed by difficulty discriminating or understanding speech, especially when talking on the telephone.  Unfortunately, these effects have some link to developmental problems, especially learning disabilities, which are five times more common in patients with NF than in the general population.

  Since this is a genetic disorder, there are no cures for this condition at this time.  Peripheral nerve tumors resulting from NF-1 are generally not removed except in some unusual circumstances where they may cause some functional impairment.  Brain and spinal tumors associated with NF-2 can often be removed successfully and these are always easier to remove when discovered early while the tumors are relatively smaller.  Since this is a genetic disorder, each child of a parent with NF has a 50% chance of inheriting the gene and developing the condition.  There is also a 50% chance that each child will not inherit the gene and will be completely free of NF.  The type of NF that is inherited is always the same as that of the affected parent although the severity and kind of manifestations differ from person to person.  NF can occur through a spontaneous gene mutation in individuals who have no affected parents. 

  The National Neurofibromatosis Foundation was founded fourteen years ago and has supported research that has discovered the two genes responsible for NF.  This may hold some potential for some type of gene therapy to correct or arrest this condition in the future.