LESCH - NYHAN DISEASE
(WARNING: This article may offend some readers)

After reading a book I was recommended titled "The Cobra Event" by Richard Preston, I became aware of a terrible genetic condition called Lesch-Nyhan disease.  This book is fictional, but it's based on 3 years of research and over 100 interviews with government agencies, military personnel and the scientific community.  The historical background on which this story is set is real, so are the government structures, forensics and science.   Without ruining the story for you, its basically about a biological bomb that explodes releasing a contagious form of the Lesch-Nyhan disease.  In Nat Hentoffs article tilted "The Awful Privacy of Baby Doe ", he referred to Lesch-Nyhan as an example of a disease where no methods should be used to extend the life of a sufferer.  The human genetic code consists of approximately 3 billion bases of DNA.  A single change in one DNA base at a precise location causes full-blown Lesch-Nyhan disease.

Michael Lesch and William Nyhan first described Lesch-Nyhan at Johns Hopkins University in 1964.  In 1979 researches discovered the exact gene on the X chromosome responsible for the disease.  Lesch-Nyhan can occur spontaneously from a genetic mutation or it can be inherited from a recessive gene.  Females can be carriers of the recessive gene but the disease occurs almost always in males.  There are only two documented cases in the world where females have been infected.  Lesch-Nyhans only prejudice is with the male population, cases are distributed evenly throughout the different human races and geographical locations.

A child born with Lesch-Nyhan will quickly develop the telltale signs of growth retardation and frequent vomiting at 3 - 6 months of age.  At the age of four, the worst symptom of extreme urges for self-mutilation becomes present.  This disturbing behaviour escalates as the child grows to become physically stronger and more cognetively capable of devising new methods of self-punishment.  Without good therapy the life expectancy is under five years.  With proper care and treatment sufferers may live to 40. The neurologic symptoms of Lesch-Nyhan include delayed motor development, severe spasticity, opisthotons and choreic, athetoid or dystonic movements.  Other common characteristics include acute gouty arthritis and tophi on the elbows, knees, fingers and toes.  The child is always aggressive with compulsive self-injurious behaviour present in approximately 85% of cases. 

The primary disturbing feature of this disease is the excruciatingly painful self-mutilation.  The sufferer will cry out in pain as they mutilate themselves.  It begins with the biting of lips, gums and tongue followed by the fingers, hands, arms and shoulders.  Whenever possible they will bang their arms, legs or head against objects.  While not held back in restraints, sufferers will gouge their nose or eyes and rub parts of their body until their skin becomes raw.  To help prevent further suffering, parents will usually have the child held in restraints for most of their lives.  They will also remove all their teeth to stop further biting.  Some sufferers have even requested the amputation of their arms to stop the madness.  The self-punishment appears to be present at the psychological level as well.  One boy really enjoyed going to the movies but frequently rejected invitations to go in order to deny himself the pleasure.  Parents and caretakers are often spat at, vomited on, cursed at, kicked and head butted as they bathe or dress the person.  This behaviour is cunningly used to provoke an attack so they will be punished. Lesch-Nyhan sufferers are not evil people, they are genuinely caring little boys that deep down don't want to hurt themselves or their loved ones.  This is what makes Lesch-Nyhan such a tragic and evil manifestation of nature.  What kind of genetic defect could cause a living organism to effectively eat itself?!

Unfortunately, effective treatment has so far been elusive.  However the defective gene has been successfully sequenced and cloned, effectively putting it in the hopeful bucket of gene therapy candidates.  This also means it can be used in biological warfare as Richard Preston so vividly describes.  "To think that the power of the genetic code is not being bent toward weapons is to ignore the growing body of evidence, the lessons of history, and the reality of human nature ".