Letter: A random and terrible disease

Mrs Gillian Maccaughey
Tuesday 05 September 1995 18:02 EDT
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From Mrs Gillian MacCaughey

Sir: I read with interest your article "Veiled clues may solve the Elephant Man mystery" (2 September). However, I would like to clarify some of the points made in reference to the genetic condition known as neurofibromatosis.

The author writes:

one in 3,000 people suffer from it, mostly in a very mild form. It only manifests itself seriously in one in 3 million. These days, serious growths can often be removed surgically.

Available information does, indeed, suggest that one in 3,000 people are afflicted by this terrible disease but your article does those people an injustice to suggest that the majority are only affected with a very mild form. The most common complications associated with neurofibromatosis include skin tumours (which may be visible on the face, arms or legs); scoliosis, or curvature of the spine, which can affect appearance and mobility if severe; learning disabilities in children with normal intelligence but who have problems with reading, writing and the use of numbers; optic gliomas (tumours of the nerves which control vision); acoustic neuromas (tumours of the nerves affecting hearing) and congenital defects of bone which are seen most often in the skull and limbs. Thus, it is not uncommon for those afflicted to suffer deafness, blindness and from a loss of mobility. Furthermore, although many of the tumours can be surgically removed, because of their location (in sensitive areas of the brain and spine) surgery can lead to additional disfigurements and disabilities for sufferers already struggling to come to terms with this difficult disease.

About half of those affected with neurofibromatosis have inherited it from a parent, the other half are affected because of a spontaneous genetic mutation. Thus, it can appear in any family, even those with no previous history of the disease.

Yours faithfully,

Gillian McCaughey

Beeston, Nottinghamshire

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