Tourette Syndrome – a fathers perspective

From time to time you read an article and think – WOW – and, just like watching a softly falling feather you are mesmerized, filled with anticipatory thought and expectant cogitation – a veritable emotional stew…

One such article was written by my mentor Professor Anthony Brown and first published by Blackwells Synergy – Emergency Medicine (2000) 12, 349–351. I reproduce the mainstay of the essay with the authors permission to increase the readers understanding and emotional rationalisation

I’ll read to you if you don’t do your chicken wings…

These fateful words still ring in my ears and raise a lump in my throat. I no longer say them, but over Christmas 1995, I used to cuddle up to my son Edward, then aged 5 years, and bargain with him. I would read from his favourite books, but only if he sat still. Invariably he would smile with excitement, then jerk his head up and down, sometimes jarring his teeth together, shoot his legs out and eventually raise both his arms, elbows crooked and press them against his chest repeatedly, like wings. These complex movements would often recur many times an hour. No matter how much I pleaded, cajoled, insisted, demanded, gave in, they happened. Some occasions I stopped reading and walked off. How I hate myself now, for my defiance and lack of understanding. Me, a specialist, avariciously reading article after article to stay at the cutting edge of emergency medicine, yet so ignorant in real life.

It was not until two years later that the diagnosis of Tourette syndrome was made. 1997 was deteriorating into an annus horribilis. Edward had been in hospital for weeks with a severe septic arthritis of the hip, we sold our over-capitalized house and my brother-in-law in England needed chemotherapy for non-Hodgkin’s lymphoma. One evening my wife Regina rang me in tears, whispering she finally knew what was wrong with Edward, after watching a television documentary on Tourette syndrome. I did not believe her, nor did the neurologist we saw in September, whose neurological examination was swift and technically flawless, but who totally failed to communicate any sort of reassurance to my wife or me.

In December we saw a child and adolescent psychiatrist, who could not have been a greater contrast. His gentle, authoritative, listening approach released our tears of relief coupled with sadness, as the diagnosis became unequivocal. Multiple, distressing, complex motor tics for over 12 months duration, with impulsivity, task-completion block, outbursts of anger but no coprolalia at present (the uttering of obscenities that everyone knows Tourette’s for – that is rare, occurring in under 10% and at a later, mid-teenage stage). We felt relief that there was an explanation for our beautiful child’s behaviour, and that the fear of the unknown that had conjured up the spectre of a brain tumour or a relentless neurodegenerative disorder could be laid to rest. Sadness because it had taken so long to recognize despite several visits to our GP; sadness because we had tried to fight it; and sadness because we suddenly felt our bright, intelligent, busy boy was forever broken.

My guilt and anger about not being there for Edward and Regina the night he had the first of several operations on his septic hip, as I was overseas briefly, were replaced by feelings of despair and helplessness that now Edward had a chronic, insidious, poorly understood illness, whose nature we had been oblivious to for so long. Tourette’s syndrome has become a part of our life, an integral fact of our family dynamics. I have read Oliver Sacks ‘The Man who Mistook his Wife for a Hat‘ and ‘An Anthropologist on Mars‘ that help to demystify, inform and hopefully improve the public’s image of this condition. I have discovered that Dr Samuel Johnson, Tolstoy’s brother and the member of the hit 1960s band Herb Alpert’s Tijuana Brass who could not keep still all had Tourette’s; and I have studied Mary Robertson’s book ‘Tourette Syndrome: the Facts‘ (Oxford University Press, 1998).

I now know that Tourette’s syndrome affects 5-50 per 10 000 population, males outnumbering females four to one, children to adults by ten to one. Ninety per cent of cases have a familial tendency with complex genetics favouring an intermediate, multiallele gene with high penetrance and greater severity in the homozygous state, and that there is a clear overlap with obsessive-compulsive disorders (OCD, that more commonly manifest in females with Tourette’s) and attention-deficit/hyperactivity disorders (ADD and ADHD).

We have given educational material to Edward’s school teachers in general and talked to his class teacher in particular about strategies to improve learning and socialisation of Tourette’s children in school-based settings, some drawn from John Piacentini’s work at the UCLA School of Medicine. This focuses on creating a safe, understanding environment, with explicit, simple, single tasks or instructions, repeated and reinforced by praise not chastisement. Most of all, Regina and I have encouraged Edward to learn and recognise that he is not odd, but that he has a movement disorder called Tourette’s syndrome due to ‘an imbalance of inhibitory GABA and excitatory glutamate receptors in certain areas of the cortex, striatum, ventrolateral nucleus and thalamus’- I said this tongue-in-cheek to him once, and his naturally inquisitive, science-orientated mind seized these data with relish.

Edward continues to perform well at school, and is envied for his prodigious reading capacity and ability to recall information. Ever since he did a ‘Show and Tell’ to his class about Tourette’s shortly after the diagnosis was first made, he has been accepted and accepting. However, we are acutely aware of the need for children to fit in with their peers, and of the frailty of self-worth, so easily shattered by a careless word or pointed comment.

We fear the day discrimination and disadvantage set in, knowing that no matter how beautiful someone may be on the inside, society has determined that invariably instantaneous judgements are made on what is first seen or heard on the outside. Edward regularly now attends ‘his doctor’, spending time alone with the specialist before Regina and I go in on our own to discuss the latest complicated issues arising at home. The child psychiatrist in reality looks after us all, and is an outstanding clinician and tactician, always prepared to listen, advise and encourage. There has been no need for medication such as haloperidol or pimozide, but we have tried a habit-reversal programme with awareness training, monitoring and developing a competing response.

The sheer time involvement and incompatibility with reaching any sort of meaningful schedule precluded its value during the school term and, during holidays, freedom to play was the priority. The exasperation and frustration of the time it may take to complete often simple tasks, our ensuing lack of spontaneity in decision-making on outings or surprises and the baffled, flustered looks on Edward’s face as we strive at times to conceal our impatience or anger are heart-breaking.

Regina and I still cannot answer Edward as to what caused his Tourette’s, whether it was anything we did, how it will progress and if there will be things he will not be able or allowed to do as he grows up. Personally, we have remained close in our marriage, despite the tension that may arise as we each cope in our own different ways. We have strengthened our resolve to confront any issues head-on in a determination to progress and not look back.

Professionally, I am much more aware of how easy it is to feed superficially off the frenzy of the challenges and rewards of practicing in a frenetic emergency-medicine environment. I deliberately now step back and absorb myself in the pathos of sharing the experience of an unexpected, unwelcome, usually unwarranted sudden illness or injury with strangers, who allow us as emergency physicians into some of their most private and defining of life events. I do not think we truly realize how dramatic, demanding and debilitating many of the conditions we see and treat daily really are for the patient and family, and how small a component the emergency presentation is in the long continuum of each person’s sickness.

If I am now able to make their experience, understanding or acceptance of what happens to them in the emergency department and beyond that much better, to empower them from the start in their process of healing, I have achieved my greater goal. Edward is currently nine and he now reads to me, cuddled up on the sofa and we both ignore the grunts, coughs, lateral eye-gazing and arm-jerking, hoping and praying quietly to ourselves that he will be one of the 50% whose symptoms abate by the age of 20. Only time will tell.

Meanwhile, our daughter Lucy, aged seven, has her first appointment with the same specialist. She has been coughing and throat-clearing repetitively now for over a year; please let this just be simple mimicry…