Theresa Harding’s long and tedious journey through increasing disability to a diagnosis of a treatable condition is a very moving one. Many readers will be as concerned as the BMJ patient editor Peter Lapsley in his rapid response to the article.
It reminded me that some years ago I was instructed as an expert witness by solicitors defending a claim of negligent delayed diagnosis of this same condition – the second time I had received such an instruction. It was not because I claimed any expertise in paediatric neurology, but did claim expertise in the dissemination of medical knowledge, at the time being editor in chief of Archives of Disease in Childhood. One question the court needed to decide was how long should it take for a competent paediatrician (or a competent paediatric neurologist) to be aware of a “new” syndrome.
Dopa responsive dystonia (DRD) was first described, in a case report in Japanese in 1971; five years later, the same author published, in an English language neurological book series, details of 9 Japanese patients, now eponymised as Segawa’s Syndrome. Two European cases were described in 1978, but in a US journal, so the paper might not have made a great impact on its readers. The first UK cases were reported in 1982. A few years later it became clear that L-DOPA might be effective in dystonias and the European Federation of Child Neurology Societies collected data on 20 cases from 11 of its members. So far, all reports had been in specialist neurological journals.
In 1987, the first report appeared in a general paediatric journal, namely one of which I was to become editor. At the time of the negligence action I was disconcerted to have found this reference, having absolutely no memory of its description of 4 Israeli children with dystonia who responded apparently miraculously to L-DOPA.
A review in Neuropaediatrics had collected 86 patients by 1988;
Twenty years ago the BMJ published a Lesson of the Week describing two young women, originally misdiagnosed with spastic cerebral palsy, and who were confined to wheelchairs until given L-DOPA. The authors concluded: “At present, awareness of DRD seems to be confined to specialists in movement disorders. There are few conditions in which a small dose of a drug can restore a wheelchair bound disabled person to normality. DRD needs to be recognised by GPs, paediatricians, orthopaedic surgeons and all doctors caring for patients with cerebral palsy.”
Despite this warning appearing in 1989, the standard UK paediatric textbook, in its 1992 edition did not index or refer to DRD nor to Segawa’s Syndrome but knowledge was clearly beginning to disseminate since – in describing the unrelated condition of dystonia musculorum deformans (DMD) – the text ends with a paragraph referring to “a group of children with an onset of a paroxysmal dystonia which is better in the mornings and worse as the day wears on has been described” and went on to state that L-DOPA could produce dramatic improvement. The contemporaneous US standard text contained no reference to the condition although it suggested L-DOPA amongst a battery of other drugs which might be worth trying in DMD. Indeed, even by 2000, this textbook, while explaining the pathophysiology of the DRD and its response to treatment, oddly indexed it as “dopa-resistant-dystonia.”
When I prepared my report for the court it was just before the internet era. Searching the literature still involved time-consuming trawls in a library through the enormously heavy bound volumes of Index Medicus – and was not to be undertaken lightly by the practising clinician. There was little published on expected time from discovery of a condition or therapy to general knowledge and application. However, a few publications stood out which dealt with the process of determining best treatments for hypertension and other cardiovascular conditions. At the time it seemed that first hypothesis to reasonable conclusions from a controlled trial took about 10 years with a further five to appearance in textbooks and guidelines, albeit that the world was not flooded with guidelines in those days.
Of course knowledge does not just come from the published word. While it might have been uncertain whether paediatric neurologists in the 1980s were familiar with the contents of Advances in Neurology, Annals of Neurology and Neuropaedatrics, it would have been comforting to think that Lessons of the Week in the BMJ or Lessons of the Month in ADC might have made more impact. Subsequent experience in analysing illogicalities in the use of intravenous rehydrating fluids in children showed a gap of 35 years between the publication of the original guidance on the topic (1958) and another presumably largely ignored Lesson of the Week detailing potential dangerous pitfalls. And a further 12 before the first prospective randomised trial.
So, going back to DRD, what did paediatric neurologists learn from attending conferences and scientific meetings even before the world’s journals caught up? And when did they whisper in the ears of their non-specialist colleagues in child health? I have no answer from a judge since my evidence was never heard; after two or three days of hearing evidence and cross examination with the equivalent of a goalless draw, the defendants threw in half a towel and settled without an admission of liability.
One can hope only that now we have the ability to search the world’s literature in minutes and patient support groups are strident in alerting us to their needs, there is a big difference to our reaction times, so that no more young women have to wait decades before they can throw away their crutches and donate their wheelchairs to the Red Cross.
Harvey Marcovitch is associate editor, BMJ