Diagnostic odyssey and healthcare access challenges in Rett Syndrome: perspectives from Brazilian families.

OBJECTIVE

To analyze the challenges in the diagnosis and care of Rett Syndrome based on the experiences of caregivers in Brazil.

METHODS

This study employed a convergent mixed-methods approach. Data were collected from 14 primary caregivers of children with genetically confirmed Rett Syndrome. Data collection included thematic analysis of semi-structured interviews and descriptive statistics from sociodemographic questionnaires.

RESULTS

The mean diagnostic delay was 3.6 years (standard deviation - SD=1.4 years; range, 2-6 years), with a median of 3.5 years. The distribution was assessed and deemed suitable for reporting the mean. Most cases (92.8%) were initially attributed to autism spectrum disorder. The main barriers were limited knowledge among professionals (78.6%), delays in genetic testing (92.8%), and difficulties accessing therapies. Caregivers (12 mothers, 2 fathers; mean age, 38.0 years [SD, 4.1]; 57.1% with a college degree) reported a significant physical and emotional burden, with 92.8% providing full-time care without institutional support. The qualitative analysis revealed four themes: the diagnostic journey, the battle for therapy, the impact on family life, and the burden of care.

CONCLUSIONS

Diagnosis and care are hindered by knowledge gaps, systemic inefficiencies, and limited support. The findings highlight the need to improve education on rare diseases, streamline access to genetic testing and therapies, and implement support programs for caregivers.