Metachromatic leukodystrophy (MLD) in France: the views of family caregivers on the diagnosis of the disease, its daily burden on their child, and the whole family.

OBJECTIVE

Metachromatic leukodystrophy (MLD) is a rare disease leading to demyelination of the nervous system and premature death. This study describes, from the parents' point of view, the family pathway, from the first signs to diagnosis, and the burden of MLD for the child and his or her family.

METHODS

Data were collected on the ELA international patient association LEUCONNECT platform, from 10 parents of 11 children affected by MLD, via a questionnaire, and a semi-directed interview. Questions covered first symptoms, medical and family history leading up to diagnosis, health, and daily, social, professional, and family aspects of quality of life. This study presents French data from an international study (Sevin, 2022; Eichler, 2022).

RESULTS

MLD diagnosis required an average of 10.2 months (2-18, n=9) from the onset of the first signs. These were motor in 81.8% of cases, occurring on average at the age of 1.2 years (0.3-1.5, n=7) in late infantile forms and at 6.5 years (3.5-11, n=4) in juvenile forms. Carers described difficulties in making themselves listened to, then feelings of terror, incomprehension, and collapse when the diagnosis was announced and a need for precise information about the disease and how to help their child. The child requires constant care (6 h a day on average), forcing 90% of carers to limit their social and professional lives. They express a strong need for respite, confirmed by a feeling of anxiety/depression in 80% of caregivers.

CONCLUSION

Parents' experience of the diagnosis process improves knowledge of the early signs of MLD. Listening to parents is crucial to reducing diagnosis delays, which is a critical factor to ensure optimal care for children. Asking parents about their lives with MLD has contributed to measure the intensity of the burden and the real need for appropriate care for families of affected children.