This consultation, intended as a unique resource for a large part of the territory, welcomes patients from Île-de-France and other regions, with some traveling from Lille or Brittany to benefit from this expertise. The goal is to identify needs early and facilitate access to appropriate solutions.
Simple actions like brushing teeth, eating, or drinking can become difficult with the progression of certain neuromuscular diseases. Dr. Florence Guillou, a specialist in physical and rehabilitation medicine, and Cécilia Galbiati, an occupational therapist, have developed this initiative within the hospital's rare disease reference center (CRMR) for neuromuscular conditions. "We supported a young woman whose goal was to be able to apply her own makeup. Enabling her to do that was so touching! Look at her smile!" testifies Dr. Florence Guillou.
The consultation is for young patients with upper limb weakness impacting their daily activities, particularly those with infantile spinal muscular atrophy or Duchenne muscular dystrophy. The aim is to identify difficulties as early as possible to offer concrete, personalized solutions before loss of capacity becomes a significant barrier to autonomy.
Technical aids such as motorized arm supports can compensate for reduced muscle strength. For more severe mobility impairments, other equipment for meal intake is offered. The consultation assesses needs, recommends and prescribes suitable technical aids, and raises awareness of sometimes lesser-known solutions.
The approach is highly practical: an initial consultation identifies needs and allows testing of various equipment. If the trial is successful, the equipment can be tested at home. A follow-up consultation confirms the device's benefit and considers its permanent installation.
Beyond assessment, the consultation facilitates access to selected technical aids through loan, distribution, or assistance with funding applications. The goal is to maintain the autonomy of young patients for as long as possible, reduce the need for human assistance for certain daily tasks, and preserve their social life and leisure activities.
Being able to perform a daily task independently is a significant step forward. These technical aids not only compensate for lost abilities but also help maintain habits, hobbies, and personal moments essential for quality of life. This consultation was made possible with support from AFM, Téléthon, the Île-de-France regional health agency, and the Fondation des Hôpitaux.
