Lives of the fellows

Rosemary Stephens

b.31 July 1924 d.29 November 2003
MRCS LRCP(1948) MB BS Lond(1948) DCH(1950) MRCP(1959) FRCP(1977) FRCPCH(1996)

Rosemary Stephens was an honorary consultant paediatrician and a research fellow at Great Ormond Street Hospital, where she investigated the genetics of childhood neurological disease.

Although she was born in Harrow on the Hill, she rejoiced in her Welsh genes, describing herself as "British (Welsh)" on official forms. Medicine and genetics met in her kinship with another Fellow of the College, David Geraint James. They were cousins - his father and her maternal grandmother having been brother and sister. Rosemary was educated at Wycombe Abbey School, followed by medical school at University College Hospital. After junior posts, Rosemary became house physician to Philip Evans and George Newns [Munk's Roll, Vol.VIII, p.359] at Great Ormond Street in 1955, and in 1956 medical registrar. Her contemporaries on the house included many who were later distinguished in various paediatric disciplines, including Eric Stroud, Joe Luder, Denis Cottom [Munk's Roll, Vol.VI, p.122], Niall O'Donohoe and Ian Aberdeen. After becoming senior paediatric registrar at Charing Cross, her first consultant post was as paediatrician in the Northampton and Kettering clinical area.

Specialisation within paediatrics was still uncommon in the sixties, but there was increasing interest in the genetically-determined degenerative neurometabolic diseases of infancy and childhood. This, coinciding with generous financial support from the family of a child with Tay-Sachs disease, led to the establishment of the post of Tay-Sachs research fellow and honorary consultant physician at the Hospital for Sick Children, Great Ormond Street, to which Rosemary was appointed in 1967. It was in this post and in this field of child neurology that she would work and make her major contribution.

The eponymously-named disease, now recognised as a group of diseases, had been first described in the 1880s by the London ophthalmologist Waren Tay and the New York ophthalmologist Bernard Sachs, but 80 years later the aetiopathogenesis remained mysterious. Advances in neuropathology, biochemistry, enzymology, neurophysiology and genetics have now led to the gradual unravelling of the underlying inherited defect in the gangliosidoses, as the nature of the 'stored' neuronal material, and the cause of that accumulation, became known. Another large group of degenerative diseases were the neuronal ceroid lipofuscinoses, to which in Britain the name 'Batten's disease' was often applied following Frederick Eustace Batten's clinical accounts in 1903 and 1914 (though Continental writers favoured their own home-grown eponyms). These too yielded slowly to scientific investigation, and a nomenclature by eponym gave way to a more scientific labelling system.

It was in the investigation and documentation of these and many other degenerative diseases that Rosemary's work largely consisted. At Great Ormond Street she worked in close collaboration with her clinical neurological colleagues and laboratory workers in the varied fields of histopathology, biochemistry, enzymology and neurophysiology, but also liaised closely with obstetricians and other colleagues in King's College Hospital and Queen Charlotte's Hospital (where she was appointed honorary clinical geneticist). Her publication list reflects the variety of the conditions she helped to elucidate as a member of the team at Great Ormond Street.

For the parents of affected children, Rosemary was a family friend as well, and as much as, their physician. Practical help in the form of much-needed respite care (a precursor of children's hospices) was provided in a specialised unit at Tadworth Court, the former country branch of Great Ormond Street. After a child's death, Rosemary would continue to be available to the parents, providing sympathy and support.

After retirement, Rosemary developed her longstanding interest in horticulture, growing her own vegetables and giving the fruits of her ancient apple trees to her friends. Until illness intervened she was able to live in her childhood home, and to nurse her parents until their deaths, up to the time of her first stroke in 2002.

E M Brett

[Brit.med.J., 2004,328,587]

(Volume XI, page 544)

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