In emergency cases, patients contact the team leaders who, after possibly examining them, will orient them towards an intensive care unit

This is organised around a close collaboration between the neurologist or paediatrician, the geneticist, the obstetrician and the psychologist.
In practice, two situations are encountered. For symptomatic patients, diagnosis of their genetic disease requires the confirmation of a gene mutation which gives further information about the mode of transmission and risks for descendants. A prenatal diagnosis might also be offered (in collaboration with Dr Vauthier of the obstetric and gynaecology department of the Salpêtrière Hospital). For asymptomatic patients, several successive consultations will be organised, bringing together the specialist in charge of the patient, the geneticist and the psychologist. The first consultation is designed to explain the advantages of possible genetic testing and to check out the patient’s motivations. If he/she wishes, the genetic sample is taken at a later date. The results (if desired by the patient) will be made known during a third consultation, this time with the geneticist.

In our unit, the role of the psychologist is essential. It is carried out by Madame Gargiulo in daily collaboration with the clinicians. Among the tasks of the psychologist are: the informing the patient of the diagnosis and its repercussions, testing for thymic problems encouraged by the disease and its management (in relation with a psychiatric team, if need be the team of Prof Allilaire, Salpêtrière Hospital), highlighting any psychological element in the symptoms, in particular for fibromyalgias, conversive states and the genetic counselling.

This aspect of patient management is particularly valued in our team. It involves detailed verbal explanations of the diagnosis, prognosis, treatment and genetic aspects of each patient’s disease. We know by experience that this information needs to be repeated at each consultation, as it is complex and sometimes not understood. The diagnosis is often rejected as – for the patient – it represents a serious threat to their own future (loss of autonomy) as well as to that of their family (disease transmission) and thus generates a major anxiety.

Patient information is also based on a very comprehensive written report that summarises the different aspects of the disease, notably the diagnosis, mode of transmission, complications, and treatment and follow-up schedules. In normal circumstances, the report is addressed directly to the patient, who gives it to his/her general practitioner. For pluridisciplinary consultations, the patient receives the report at the end of the day of consultation.

This socio-administrative aspect of patient management is of particular concern to our team. Therefore, we have one half-time social worker specially trained to deal with the problems raised by myopathic patients. The work consists of helping to complete the paperwork necessary for the application to bear full costs of the disease, to obtain invalidity and longterm illness papers, to receive allowances and third party representation and/or to organise a stay in a physiotherapy centre or home hospitalisation. This activity represents several hours’ work per week which would otherwise be undertaken by the senior physicians.

In each region of France, the AFM has set up a structure for assistance in the integration of myopathic patients. It has trained integration assistants to specialise in the management of different pathologies.
The medico-technical department of the AFM is a useful structure for advising patients about possible conversions to their homes or the acquisition of material adapted to their handicap. If necessary, patients are oriented towards these regional networks.