BackgroundSMA type 1 is a severe neurodegenerative disorder that, in the absence of curative treatment, leads to death before 1 year of age without ventilatory support. Three innovative therapies are available to increase life expectancy.Purpose(i) To increase knowledge about parents' experiences with their decision to have opted for an innovative therapy; (ii) to assess the middle-term psychological consequences in the parents' lives.MethodsWe used an in-depth interview; a self-administrated questionnaire and self-report scales (BDI-II, STAI-Y, PSI-SF, SOC-13, PBA, DAS 16 and FICD). We compared parents hesitant before the decision to parents who were not-hesitant and the group of parents whose child was treated with gene therapy (GT) to parents whose child received another innovative therapy.Main resultsWe included n = 18 parents of 13 children. Parent's mean age was 34.7 (±5.2), child's average age was 44.3 months (±38.0). Retrospectively, most parents felt involved by doctors in decision-making on treatment, they felt their point of view was considered and were satisfied with the effects of the treatment. The group of parents “non-hesitant” was more depressed (p < 0.001), more anxious (p = 0.022) and had higher parental stress (p = 0.026) than the group of “hesitant” parents; the group of “GT-treated” parents was more depressed (p = 0.036) than the group of parents with “other therapy”. Qualitative data highlights revealed: the need to save the child's life at all costs; the fear of coping with end of life and palliative care, the high value of perceived physician confidence in the treatment, the hope that the child will acquire autonomy or be cured. At the time of the decision, no parents felt they fully understood all of the issues regarding therapy and the disease.ConclusionHesitating before making a decision did not predispose parents to depression and anxiety. The narratives suggest that the parents faced a dilemma regarding their child's health in an urgent context. The decision was not final, and parents will continue to think about it throughout the care process.

Cet article étudie les remaniements produits au sein d’un couple lorsque l’un des partenaires reçoit le diagnostic d’une maladie neuromusculaire, des années après leur rencontre. Il s’appuie sur l’étude de cas d’un couple exploré à travers l’utilisation de deux outils : une médiation, « le jeu de l’oie », proposée au couple, suivie d’un entretien individuel avec chaque partenaire. La maladie peut renforcer le pacte inconscient du couple, mais aussi ébranler ses fondations et entraîner une crise laissant chaque partenaire face à sa propre souffrance. Cette crise peut apparaître à distance du diagnostic, notamment au moment de l’apparition des symptômes invalidants du partenaire atteint. Le psychologue clinicien, au sein des consultations médicales spécialisées, joue un rôle crucial pour identifier les situations à risque et œuvrer pour que le couple du patient soit aussi « pris en soin » et que les partenaires, comme les patients, soient entendus dans ce qu’ils vivent face à l’expérience de la maladie pour au moins en limiter les effets.