Procedures and Tools
- National Protocal for the Diagnosis and Care of Wilson’s Disease
- Communication tools for patients with Wilson’s disease
- Brochure on swallowing for dysphagic patients with Wilson’s disease
- Information and advice card on Wilson’s disease
- Conversion of units for copper assays
- Copper balance and genetic analysis
of Wilson’s Disease
ISSUED BY THE FRENCH NATIONAL HEALTH AUTHORITY (HAS)
National Reference Centre for Wilson’s Disease, Hôpital Lariboisière, Paris
(available online via the HAS website since January 2008)
The aim of the National Protocol for the Diagnosis and Care of Wilson’s Disease (PNDS) is to offer information to healthcare professionals on the optimum management and care pathway for patients with Wilson’s disease.
It is a practical tool to which physicians can refer when managing the disease, and notably when determining a care protocol, in collaboration with the advising physician and the patient.
However, the PNDS cannot envisage all specific cases, all co-morbidities, and all notable therapeutic features or hospital care protocols, etc. It cannot claim to be exhaustive regarding potential management methods and cannot replace the individual responsibility of a physician towards a patient.
Nevertheless, this protocol provides a good reflection of the fundamental principles to be followed when managing a patient with Wilson’s disease.
The augmentative and alternative communication tool (CAA), which takes the form of a two-sided, colour visual aid (A2 format), can be downloaded online (see link below). The front shows pictograms grouped by topic, while the back shows an alphabet (available in two versions: AZERTY and alphabetical order), numbers and a few common words. These words were chosen according to the communication needs of patients and their careers, following a survey of the team at the CRMR Wilson. During hospitalisation, on a temporary basis during a flare-up of the disease, or at the patient’s home, this visual aid aims to facilitate communication. It is given to dysarthric patients who suffer from severe problems in making themselves understood – but are capable of pointing – to their families and their clinical and non-clinical care teams. If communication problems become chronic because of a persistence of severe dysarthria affecting intelligibility to an important degree, the introduction of augmentative or alternative tools such as speech synthesis may also be envisaged. Special units may then offer patients the loan of such systems, in order to test whether they might be useful.
2 types :
- AZERTY visual AID
- ABCDE visual AID
- Production: Michaela Pernon, speech therapist (CRMR Wilson, Hôpital Lariboisière)
- Design: Inspired by the brochure which was designed by Dominique Bénichou, a speech therapist at Nantes University Hospital, and intended for use by patients with communication disorders in the neurovascular unit.
- Illustrations: Jules et Tom, from the brochure designed by Dominique Bénichou available online
The brochure on swallowing contains both information specific to the swallowing disorders seen in the context of Wilson’s disease, and some recommendations (posture, environment, use of medications, technical aids, contact details for professionals) compiled in line with the results of studies performed on dysphagia in Wilson’s disease patients. It thus explains these disorders and offers advice on diet. It also enables improved coordination with the patient’s family and with the carers who help that at home or in the healthcare centres they attend.
Download the brochure on swallowing
The CRMR Wilson team has compiled this information card for patients with Wilson’s disease. Once completed, this personalised card is designed to contain all the information necessary relative to the patient’s disease (clinical team, paraclinical team, treatment, etc.).
Advice on management and essential information on the disease are also provided.
This folding card can be obtained from Hôpital Lariboisière and other Wilson’s disease expert centres. Don’t hesitate to ask for it.
The CRMR Wilson toxicologists and neurologists have produced this card that converts the units used for copper assays, so that healthcare professionals can better interpret laboratory results. afin d’aider les professionnels de santé à interpréter des résultats biologiques.
For each type of assay, three values are shown:
- Normal value
- Value suggestive of a heterozygous individual
- Value suggestive of Wilson’s disease
This small, plasticised card is easy to carry around with you. It is available from the CRMR Wilson at Hôpital Lariboisière. Don’t hesitate to ask for it.
Within the coordinator-site of Lariboisière (Paris), a protocol that specifies the procedures for the diagnosis and follow-up of Wilson’s disease has been set up.
4 forms have been created in order to better specify each request. They can be used by every health professional who has got a patient with suspicion of Wilson’s disease or other rare copper-related illness. These forms are to be completed in detail and to be sent with the samples as indicated: