Research Release: The Lived Experience of Arginase-1 Deficiency
We are excited to present the results of our recent research, “The Lived Experience of Arginase-1 Deficiency.”
This report offers key insights gathered from a survey of the Arginaise-1 Deficiency (ARG1d) community, in collaboration with the Arginase 1 Deficiency Foundation in the US. Our survey was aimed at improving the understanding of their live experience and broadening the existing body of evidence.
About the Survey
Between March and May 2024, we surveyed parents and carers of the ARG1d community on their experience with:
- Diagnosis
- Daily living
- Treatment and management
- Perspectives on new treatment
- Their lived experience of caring for someone with the condition
Key findings
- Diagnostic Journey: Diagnosis occurred at a mean age of five years, with delays due to limited awareness and testing challenges – indicating clear areas for improvement.
- Daily Life and Caregiving: Managing ARG1d is intensive and demanding, requiring a highly structured routine, coordinated care from multiple healthcare professionals, and substantial parental involvement.
- Treatments and Challenges: Current treatments help manage symptoms, but access to medications and specialist care remains a major challenge.
- Caregiver Perspective: Parents and caregivers experience emotional, financial, and physical burdens that affect their work, social life, and overall well-being, highlighting the need for stronger support systems.
- Future Needs and Treatment: Unmet needs included increased awareness and training among healthcare professionals, improved access to treatments, specialised activities, regular review of ongoing support, and medications like Loargys® (Pegzilarginase).
Access the report
The full report is now available to download or read.
Click the button below to access it:
With thanks
Metabolic Support UK would like to thank the Arginase 1 Deficiency Foundation and the members of the Arginase-1 Deficiency community for their participation in the survey and providing valuable input. Their contribution helps us share their voice, increases the evidence base for Arginase-1 Deficiency, and also contributes to shaping our future support.
