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Caregivers' and Physicians' Perspectives on Alpha-Mannosidosis: A Report from Italy
Elena Verrecchia1, Ludovico L Sicignano2, Maria Grazia Massaro2
1UOC Continuità Assistenziale, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy. elena.verrecchia@policlinicogemelli.it.
Insights
Diagnosing alpha-mannosidosis (a rare lysosomal storage disorder) presents challenges for patients and caregivers, often involving delayed diagnosis and fragmented care, especially in rural areas.
Area of Science:
- Rare diseases
- Lysosomal storage disorders
- Patient journey
Background:
- Alpha-mannosidosis is a rare, progressive, and heterogeneous lysosomal storage disorder.
- Diagnosis is often delayed due to its subtle and varied presentation, requiring multiple specialist referrals.
- Understanding patient and caregiver experiences is crucial for improving care pathways.
Purpose of the Study:
- To describe the diagnostic and treatment process of alpha-mannosidosis from both caregiver and physician viewpoints.
- To highlight the challenges and disparities in accessing timely diagnosis and care.
- To identify areas for improved healthcare professional awareness and patient support.
Main Methods:
- Qualitative study involving interviews with mothers of two alpha-mannosidosis patients (Adele and Amedeo).
- Analysis of anonymized interview transcripts to capture lived experiences.
- Inclusion of physician perspectives on healthcare professional awareness and support needs.
Main Results:
- Both cases experienced diagnostic delays despite early symptoms like recurrent infections and developmental delays.
- Caregiver experiences varied based on geographic location, with urban access contrasting with rural challenges.
- Difficult transitions to adult care and limited access to therapies (e.g., enzyme replacement therapy) were noted.
Conclusions:
- Increased awareness of alpha-mannosidosis among healthcare professionals is essential.
- Enhanced support systems are needed for patients and caregivers, particularly in underserved areas.
- Addressing diagnostic delays and improving access to multidisciplinary care are critical for better outcomes.
Abstract:
Alpha-mannosidosis is a rare lysosomal storage disorder that generally presents in early childhood. It is a progressive, highly heterogeneous disease that is difficult to recognize, and a diagnosis is usually reached after referrals to multiple specialists. It is important to understand the challenges faced by patients and their caregiver up to and after a diagnosis of alpha-mannosidosis. In this report, we describe the process of alpha-mannosidosis diagnosis and treatment from the caregivers' and physicians' perspectives. For the caregivers' perspective, the mothers of two patients with alpha-mannosidosis ('Adele' aged 35 years and 'Amedeo' aged 40 years) were interviewed in their homes in Italy, and anonymized transcripts were used to describe their experiences. Adele lived in a large city with access to hospitals and specialized centers and was diagnosed with alpha-mannosidosis before 3 years of age. Amedeo was from a small village and was diagnosed when he was 10-11 years old. In both cases, their mothers sought help from pediatricians and other specialists for recurrent infections and delayed speech and motor development in the first years of their lives, but diagnosis was delayed. Although the diagnostic pathway was concerning and frustrating for her mother, Adele was able to live at home and receive multidisciplinary care and psychosocial support locally, but the transition from pediatric to adult services was difficult. She is currently waiting for access to enzyme replacement therapy. Amedeo had to travel widely and frequently to receive a diagnosis and access supportive treatment. The cumulative morbidity resulting from the delays and poor access to care necessitated long-term residential care. From the physicians' perspective, greater awareness of alpha-mannosidosis is required among healthcare professionals and more support is needed for patients and caregivers, particularly those living in rural areas or small centers.
