Trudie Lobban’s young daughter, Francesca, was fainting up to eight times a day. Unconvinced that she would “grow out of it” after hospital tests reported nothing wrong, Lobban wrote letters to paediatric neurologists all over the world.
Professor John Stephenson, of what was then the Royal Hospital for Sick Children, Glasgow, responded. Extremely concerned about children like Francesca, he had coined a name for their condition: reflex anoxic seizures (RAS). Occurring mainly in young children, RAS can stop the heart, make arms and legs jerk, and stiffen the body. The attacks often left Lobban fearing that Francesca had died, but the condition was not life-threatening.
However, RAS was often misdiagnosed as temper tantrums, breath-holding, and, most critical of all, epilepsy. Nearly a third of children with supposed epilepsy were reported to have been misdiagnosed and prescribed unnecessary drugs that induced debilitating side-effects such as abdominal pain, nausea, dizziness and mood changes.
Renowned for getting people to do things and generating enthusiasm where none may have existed before, the deep-voiced Stephenson persuaded Lobban to set up a parental support group. He reassured her that this would involve only “about ten families a year”. Lobban launched Stars (Syncope Trust & Reflex Anoxic Seizures) in 1993.
Thirty years later, in 2023, Stephenson apologised to Lobban for misleading her because, she explained, “Stars had taken over my life and tens of thousands of people have made contact over the years.” But she added: “I would not change anything.” The group became international and led to Lobban also founding the Arrhythmia Alliance.
Recognising that medical progress is often more drip-drip than bang-bang, Stephenson spent years trying to educate fellow doctors about RAS in reports showcasing his erudition and witty way with words.
Writing in the British Medical Journal in 1977 he raged: “Although once upon a time epilepsy encompassed any kind of seizure, syncope [temporary loss of consciousness] cut loose several centuries ago. Please let us keep it that way and not blur the fundamental distinction between epileptic and anoxic [oxygen-deficient] fits.”
His monograph, Fits and Faints (1990), quietly but firmly chastised medical colleagues for overly casual use of common words such as convulsion, faint, fit and syncope. Words, he stressed, had specific meanings with diagnostic significance.
Fits and Faints built on his pioneering use of video in the 1970s for teaching, diagnosing and monitoring disease. He used the revolutionary Kodak Super 8 camera, the catalyst of the first home movies for millions of families, to distinguish between different involuntary movements such as spasms and seizures. Stephenson lent patients VHS video cameras to record night-time seizures.
He was an idiosyncratic teacher. His last senior registrar, now Professor Sameer Zuberi of the Royal Hospital for Children, Glasgow, said: “John encouraged a learning environment where scientific discourse accompanied discussion of literature and music. Clinical points were illustrated by references to the work of Sir Arthur Conan Doyle and examination taught by comparing the use of a tendon hammer to a cellist playing Dvorak’s Concerto in B Minor.”
Sharing a birthday with Scotland’s national bard Robert Burns, Stephenson invited students to an annual Burns supper to deliver a poem or speech. Burns would have toasted Stephenson’s delight in identifying several malt whiskies while blindfolded and his love of the island of Islay, where the family had a holiday home.
His birthday Burns parties were hosted by his wife Phillippa. She and their five children survive him: David, a retired finance director; Philip, a university lecturer; Michael, a health and safety adviser; Wendy, a retired paediatric nurse; and Ian, a software engineer.
Although he was highly sociable, Stephenson never backed away from controversy. Zuberi remembers how the words “Stephenson, Glasgow” struck fear in many neurologists at medical meetings, provoking a penetrating and sometimes witty question.
John Burdett Primmer Stephenson was born in 1935. Brought up initially in Fife, he was the son of Keith Stephenson OBE, a Second World War naval commander who later worked in military intelligence. His wife Jane (neé) Robertson was a teacher with degrees in English, French and drama.
Young John won scholarships to the private St Edward’s School, Oxford, and Balliol College, Oxford, before completing medical training at St Thomas’ medical school, London. Deciding to specialise in neurology in Glasgow after initial jobs in paediatrics, he won a fellowship at the internationally renowned Toronto Hospital for Sick Children. He described his time in Canada as “one year, a lifetime of education”.
Medical careers, like many others, need a bit of luck or serendipity if they are to take off. Toronto was Stephenson’s luck — as was his timing. Paediatric neurology in the early 1970s was still in its infancy and he became one of its pioneers. Only ten years after graduating he returned to Glasgow, in 1973, as the city’s first consultant paediatric neurologist.
In his first year in Glasgow he founded the Fraser of Allander Unit, one of the UK’s first multidisciplinary child neurology and development centres. Four years later the Department of Health and Social Security recognised paediatric neurology as a speciality in its own right.
Zuberi recalled how Stephenson would focus at times “almost obsessively” on certain fields such as Aicardi-Goutières syndrome (AGS), a rare inherited disease affecting mainly the brain, immune system and the skin. But as his hunches often paid big dividends, he persuaded a young genetics trainee to investigate the disorder.
Yanick Crow identified many of AGS’s genetic causes, leading to an explanation for several other genetic disorders and the development of a new branch of medicine, “the interferonopathies” (interferon plays a role in the body’s immune system and was implicated in AGS).
Stephenson was both an outstanding researcher and physician. He was renowned for putting stressed children at ease through his humour and for having what his former colleague Rod Duncan called “a modest frame and the constitution of an ox”.
Duncan added: “Despite being 20 years his junior (and no shrinking violet myself), I could only marvel at it: his need for sleep seemed negligible and his resistance to the adverse effects of large amounts of whisky was nothing short of prodigious. I have the feeling that modern algorithms for the selection of medical students would instantly identify and exclude him and his like. Fortunately for us he lived in more enlightened times.”
Professor John Stephenson, doctor, was born on January 25, 1935. He died of progressive frailty and cerebral small vessel disease on April 16, 2024, aged 89
https://www.thetimes.com/uk/obituaries/article/professor-john-stephenson-2g0m0bxzx
Trudie Lobban, Founder and CEO of STARS remembers Professor John Stephenson:
STARS Founding Patron Professor John Stephenson died peacefully in his sleep on Wednesday 17 April 2024. Some of you will not be familiar with the name, but there are many families who remain forever grateful to this wonderful doctor.
It was 1978 when Prof Stephenson gave a name to the unexplained loss of consciousness young children were experiencing. Reflex Anoxic Seizures (RAS). Until then, many children were being misdiagnosed with epilepsy and prescribed what would have been unnecessary anti-epileptic medication. My daughter, Francesca, could have been one of those children, but after writing to numerous paediatric neurologists, I was contacted by Prof John Stephenson himself, who diagnosed RAS. It was Prof Stephenson who then asked whether I would like to start a small ‘support group to help about ten families a year’. This was March 1993 when STARS was conceived.
I last spoke to my friend and mentor at Christmas 2023, and he again apologised for ‘misleading’ me all those years ago because STARS has taken over my life and tens of thousands (maybe over 100,000) of people have made contact over the years – but I would not change anything.
He had a vision no child would be misdiagnosed with epilepsy as long as RAS was recognised and understood by the medical profession. STARS will continue to support his work and ensure it has not been in vain.
Dr Ailsa McLellan, BPNA President and Professor Sameer Zuberi Consultant Paediatric Neurologist Royal Hospital for Children, pay tribute to Professor John Stephenson
John was one of the Founders of Paediatric Neurology and set up the Fraser of Allander Unit at the Royal Hospital for Sick Children in Glasgow, one of the first comprehensive multidisciplinary child neurology and development centres in the United Kingdom. He remained a full-time NHS Consultant until he retired in 2000 and was an Honorary Professor in the University of Glasgow. He attended the first British Paediatric Neurology Association meeting in 1975 and was elected to the inaugural committee of the BPNA.
Defining the physiology and differential diagnosis of epilepsy and other paroxysmal disorders was one of John’s principal research and clinical interests. His classic monograph “Fits and Faints” was published in 1990 and contains over 140 case histories. He taught generations of trainee doctors that history is key to making a diagnosis and wrote ‘complete acquisition may not be possible, but no effort is too great in attempting to reach this goal’.
John pioneered the use of home and clinic video recordings for teaching and to aid differentiation of paroxysmal events and follow the course of chronic neurological disease. This, of course, is a routine part of clinical assessment now with the use of smart phones, but he did this from the 1970s using Super 8 cameras and lent out VHS cameras and tripods to families in the 1990s to record nocturnal seizures at home.
John collaborated widely with research groups around the world to further the understanding of the pathophysiology of paediatric neurology conditions. He did this with great enthusiasm but always with the premise of trying to give an explanation of the clinical condition of a patient to their families and offer targeted treatments. Like all paediatric neurologists he had many unsolved cases in his working career, but as newer diagnostics evolved, he reviewed his cases and made many new diagnoses which he relished in sharing with colleagues as ‘updates’ at the Scottish Paediatric Neurology Group.
John revelled in the environment of clinical meetings and spent as much time as possible in the hospital and University library. The words “Stephenson, Glasgow” (and more recently ‘’Stephenson, Islay’) as he asked a penetrating and often witty question was heard at academic meetings for over 40 years.
He will be missed.
https://heartrhythmalliance.org/stars/pl/trudie-lobban-remembers-prof-john-stephenson
https://www.researchgate.net/scientific-contributions/JBP-Stephenson-39110894
ReplyDeleteJohn Illman. John Stephenson: paediatric neurologist who found a major area of medical misdiagnosis. BMJ 2024;386:q1485
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