A personal history and people power

Comment by Alex Habel, February 2016.

On being asked to write a short piece on personal recollections of the history of 22q11.2DS it took me back to the dark days before Peter Scambler and Beverly Emanuel with Elaine Zakai independently published their illuminating work identifying the deletion.

As a paediatric neurology trainee in Edinburgh I attended one session a week in the Speech Clinic staffed by speech therapists, clinical psychologist and neurologist, and another in the monthly Cleft Clinic run by the Plastic surgeons. Multidisciplinary clinics are not new! Puzzled by children presenting with hypernasal speech, we speculated about the length of the maxilla, and 'short palates'. A Dr Sedlackova's name was intoned. She had written in an obscure Czech publication about velofacial hypoplasia. You can imagine our excitement when in the early 1970's into the clinic came a boy AND his mother with the same disability and facial appearance. Perhaps we were blinkered, for at that time there was no genetic test and the geneticist, only recently appointed as a full time post, was unable to help us further. Di George had only recently described his eponymous findings and his families were so severely affected that it didn't seem possible that they might be different presentations of the same condition, and Shprintzen listed cleft palate among the core manifestations of what was to be called Velocardiofacial syndrome.

It's a matter of personal regret that contact was lost with many such families and we live in the knowledge that given the right mind set, the vast majority of such individuals may now be diagnosed accurately and promptly. As I write, an All Party Parliamentary Group (APPG) of the British Parliament has been established as a result of pressure from English 22q11.2DS family charities, led by Max Appeal. The first goal of the APPG is to raise awareness among MP's and cascade this to the various branches of Government, influencing Departmental policies, and education of members of the medical and allied professions. In this forum Members of Parliament have heard the first hand experiences of families battling the System for appropriate assistance from Community services, in Education, and Health. As professionals we gained the ear of a Minister of Health who came for 5 minutes and stayed for 30, so pertinent were the parents' presentations in arousing the Minister's interest. In subsequent meetings the MP's have learnt about the latest in genetics from Professor Peter Scambler, and the many manifestations of mental health issues. In the year ahead they will be listening and quizzing many other experts on the economic costs of delay and benefits from acting proactively to health needs, holistic delivery of services, and the patchy 22q11.2DS service provision across the UK, among other topics. We live in an age of increasing involvement of patients and families in accountability for diagnosis and delivery of services. The APPG is a potentially powerful example of it in action, with the agenda being set by the charities in the very centre of the UK's decision making forum. 'Power to the people' as a rallying cry is totally appropriate in this context.