Today (28th February) is Rare Disease Day, and it seems appropriate to draw attention to our holdings of the papers of a major figure in the history of unusual diseases and syndromes, Frederick Parkes Weber FRCP (1863-1962).
Parkes Weber’s contributions are memorialised in a number of medical eponyms incorporating his name: Rendu-Osler-Weber disease (familial telangiectasis), Weber-Klippel syndrome (haemangiectatic hypertrophy of limbs, also known as Parkes Weber Syndrome), Weber-Christian disease (relapsing febrile nodular non-suppurative panniculitis) and Sturge-Weber-Kalischer disease (angioma of brain revealed by radiograph).
He was more generally a relentless collector of examples of rare diseases and conditions, in fact had been a committed collector since boyhood, when he took up the collection of coins and medals, later becoming a noted expert in numismatics, as well as stamps, butterflies and moths, mineralogical specimens and fossils. His papers reflect this tendency very strongly, revealing the accrual over the many years of his lengthy career of material on diseases either rare in themselves, or unusual manifestations of more common disorders. Colleagues would send him information about their own enigmatic cases.
So renowned was he for his knowledge in this area that there is a story that, at a meeting of the Royal Society of Medicine, prolonged stamping and cheering greeted his confession that ‘I have never heard of Turner’s Syndrome’ so unthinkable was it that there could be a syndrome of which he had not heard.
His papers regularly feature as among the top ten most popular with readers in Archives and Manuscripts. As he was meticulous in carefully differentiating particularly obscure conditions from other more common ones with which they might be confused – for example, he distinguished the rare disorder of pituitary function, Simmonds Disease, from the more often encountered eating disorder, anorexia nervosa, the symptoms of which are very similar – his papers contain a good deal of information on a very wide range of conditions, as well as reflecting his very broad interests in issues about health, life and death.