Patient care

Stages of the consultation

• The initial consultation is very thorough. Drawing on the clinical history, any family history and a detailed clinical examination assessing the characteristic signs and the markers of severity, it gives a first overall picture, which is set out in a very complete written report. The consulting doctor draws up several documents: a detailed clinical report, a pedigree, a rehabilitation prescription, an application for full cover under the French health insurance scheme, various certificates (in particular for disability status under the French social security scheme) and a file for a future inpatient stay.
• A day admission makes it possible to confirm the suspected diagnosis raised at the initial consultation. Patients may undergo additional tests or, if they have recently been diagnosed, care can be arranged very quickly to screen for complications, in multidisciplinary consultations or otherwise, for adults or children.
• A longer inpatient stay (a week, sometimes more) may be necessary if therapeutic management cannot be delivered in an outpatient consultation alone and/or if a comprehensive aetiological work-up is required.

Other aspects of care

Emergencies

In an emergency, patients contact the team leaders, who will refer them to an intensive care unit, seeing them first if necessary.

Genetic counselling

It is built on close collaboration between the neurologist or paediatrician, the obstetrician, the psychologist and the geneticist (Dr Héron).

Two situations arise in practice:

• For symptomatic patients, a definitive diagnosis of their genetic disease requires confirmation of a gene mutationModification soudaine et transmissible du matériel génétique. Elle peut être spontanée ou induite par des agents dits » mutagènes » (radiations, produits toxiques,…). (for example a CTG expansion in Steinert disease). This makes it possible to refine the information given on the mode of inheritance and the risks for offspring, and where appropriate to offer prenatal diagnosis (in collaboration with Dr Vauthier, obstetrics and gynaecology department, Pitié-Salpêtrière Hospital).
• For asymptomatic relatives, several successive consultations are arranged, bringing together the specialist from the team caring for the patient, the geneticist and the psychologist. The first consultation explains the value of possible screening and makes sure of the person’s motivations. If they wish to go ahead, the genetic sample is taken at a later stage. Disclosure of the result, if the person wishes to receive it, is the subject of a further, dedicated consultation with the geneticist.

Psychological care

The psychologist plays an essential role in our unit, a role filled by Ms Gargiulo in daily collaboration with the clinicians. It covers the disclosure of the diagnosis and its repercussions, the screening and management of a mood disorder made more likely by the disease (referral to a psychiatric team, where needed the team of Prof. Allilaire at the Pitié-Salpêtrière Hospital), and the identification of a psychological component in the symptoms, in particular in fibromyalgia and conversion disorders, as well as genetic counselling.

Information for patients

This aspect of care is given particular emphasis in our team. It involves a detailed spoken explanation of the diagnosis, the prognosis, the treatment and the genetic aspects. Experience has taught us that this information must be repeated at every consultation, because it is so complex and is sometimes not fully understood.
The diagnosis is often rejected because, for the patient, it casts a heavy shadow over their own future (loss of independence) and that of those close to them (transmission of the disease), generating major anxiety.

Information is also provided through a very complete written record, reviewing the various aspects of the disease, in particular the diagnosis, the mode of inheritance, the complications and the treatment and follow-up schedule. Except in exceptional cases, the report is sent directly to the patient, who then gives it to their GP. After a multidisciplinary consultation, patients are given their report on the same day, when they leave.

Social care

Addressing social and administrative issues is a major concern for our team. Within our group, this work is carried out by a part-time social worker trained in the specific problems presented by patients with a myopathy. It involves drawing up the many administrative documents required to obtain full cover for the condition under the French health insurance scheme, disability status, long-term illness status, benefits and a third-party carer allowance, to arrange a stay in a rehabilitation centre, to set up hospital-at-home care (“hospitalisation à domicile”, a French home hospitalisation scheme), and so on. For senior doctors, this activity amounts to several hours of work each week.

Contact with the AFM-Téléthon regional professional networks 

In every French region, the AFM-Téléthon has set up a service that supports the social and occupational inclusion of patients with a myopathy. It has trained inclusion technicians who specialise in the care of the various diseases.
The AFM-Téléthon medical and technical service is a useful resource for advising patients on possible adaptations to their home or on obtaining equipment suited to their disability. This is why we refer patients to this service whenever it may be helpful.