The Impact of Mucopolysaccharidosis Type III (MPS III) on Family and Finances: A Caregiver Perspective
Author(s)
Manpreet K. Sidhu, BA, MBA, PhD1, Ashley Haywood, BS2, Cara O'Neill, MD3, Erin Laughlin, BS4, Hannah Watts, BA5, Katia Moletta, N/A6, Raquel Marques, MSc7, Sarah Beattie-Stevens, MS8, Matt Harutunian, BS9;
1Ultragenyx Pharmaceutical Inc., Executive Director, Global HEOR and Epidemiology, Union City, NJ, USA, 2Caregiver, N/A, NC, USA, 3Caregiver and Cure Sanfilippo Foundation, Columbia, SC, USA, 4Caregiver, N/A, MN, USA, 5Caregiver, N/A, United Kingdom, 6Caregiver and Sanfilippo Fighters Italy, Bologna, Italy, 7Caregiver and Associação Sanfilippo Portugal, Lisbon, Portugal, 8Caregiver, Victoria, Australia, 9Ultragenyx Pharmaceutical Inc, Novato, CA, USA
1Ultragenyx Pharmaceutical Inc., Executive Director, Global HEOR and Epidemiology, Union City, NJ, USA, 2Caregiver, N/A, NC, USA, 3Caregiver and Cure Sanfilippo Foundation, Columbia, SC, USA, 4Caregiver, N/A, MN, USA, 5Caregiver, N/A, United Kingdom, 6Caregiver and Sanfilippo Fighters Italy, Bologna, Italy, 7Caregiver and Associação Sanfilippo Portugal, Lisbon, Portugal, 8Caregiver, Victoria, Australia, 9Ultragenyx Pharmaceutical Inc, Novato, CA, USA
Presentation Documents
OBJECTIVES: MPS III is a group of rare disorders characterized by neurodevelopmental decline, multi-system disease, and early death, described here from the caregiver perspective.
METHODS: Seven caregivers were recruited world-wide for individual, one-hour interviews.
RESULTS: Participants’ children (4-20 years old) required constant supervision and support for basic activities of daily living. Children were vivacious and joyful, but could also have outbursts of anger and frustration and prolonged crying and screaming fits. Community support groups were rare, leading to isolation. In response, several caregivers started their own patient advocacy groups. Mothers, especially, managed complicated schedules and a large team of healthcare providers and other caregivers, leaving them exhausted and overwhelmed. Other children worried about how their sibling would be treated and felt isolated. Some families made end-of-life plans early, while others consciously focused on the present. Having limited time with their child crystalized how precious life was. Most children thrived with the social engagement provided by school. However, lack of training or negligence in some schools contributed to regressions. For older children, caregivers needed to find adult day care, transition from pediatric to adult healthcare, and make legal provisions to manage money and care decisions on behalf of their adult child. Many caregivers had transitioned into more flexible jobs or left the work force, limiting earning potential. Healthcare costs were high. Most children were covered under a complex combination of government-funded programs and private insurance, though caregivers acknowledged that these safety nets did not cover all expenses and were not available to all. Caregivers cited a need for reliable, simple, multilingual information explaining what to expect, available resources, and rights. They felt an overall lack of societal urgency, and access to treatment across the lifespan was paramount.
CONCLUSIONS: MPS III impacted all aspects of family life.
METHODS: Seven caregivers were recruited world-wide for individual, one-hour interviews.
RESULTS: Participants’ children (4-20 years old) required constant supervision and support for basic activities of daily living. Children were vivacious and joyful, but could also have outbursts of anger and frustration and prolonged crying and screaming fits. Community support groups were rare, leading to isolation. In response, several caregivers started their own patient advocacy groups. Mothers, especially, managed complicated schedules and a large team of healthcare providers and other caregivers, leaving them exhausted and overwhelmed. Other children worried about how their sibling would be treated and felt isolated. Some families made end-of-life plans early, while others consciously focused on the present. Having limited time with their child crystalized how precious life was. Most children thrived with the social engagement provided by school. However, lack of training or negligence in some schools contributed to regressions. For older children, caregivers needed to find adult day care, transition from pediatric to adult healthcare, and make legal provisions to manage money and care decisions on behalf of their adult child. Many caregivers had transitioned into more flexible jobs or left the work force, limiting earning potential. Healthcare costs were high. Most children were covered under a complex combination of government-funded programs and private insurance, though caregivers acknowledged that these safety nets did not cover all expenses and were not available to all. Caregivers cited a need for reliable, simple, multilingual information explaining what to expect, available resources, and rights. They felt an overall lack of societal urgency, and access to treatment across the lifespan was paramount.
CONCLUSIONS: MPS III impacted all aspects of family life.
Conference/Value in Health Info
2025-05, ISPOR 2025, Montréal, Quebec, CA
Value in Health, Volume 28, Issue S1
Code
PCR31
Topic
Patient-Centered Research
Topic Subcategory
Patient Engagement
Disease
SDC: Neurological Disorders, SDC: Pediatrics, SDC: Rare & Orphan Diseases, STA: Genetic, Regenerative & Curative Therapies