2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-People and families affected by GSDIa: An analysis of narrative accounts written by caregivers and individuals living with GSDIa

People and families affected by GSDIa: An analysis of narrative accounts written by caregivers and individuals living with GSDIa

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Pdf Summary

Glycogen Storage Disease Type Ia (GSDIa) is a rare metabolic disorder that affects approximately 1 in 125,000 births each year. The impact of GSDIa on patients and their families is not well described in literature. To understand the daily impact of the disease, a study was conducted to gather narrative accounts from patients and caregivers. The analysis of these accounts revealed several key areas of impact.<br /><br />Managing the disease is a constant challenge for patients and caregivers. Patients need to adhere to a strict eating and drinking schedule and rely on continuous glucose supplementation, often through the night. Missing cornstarch or experiencing mild illness can lead to hypoglycemia and serious health complications. Caregivers find it difficult to leave their child in the care of others and face constant vigilance and exhaustion.<br /><br />The process of diagnosing GSDIa is often difficult and can occur between 3-18 months of age. Caregivers reported challenges in achieving a timely diagnosis and lack of support from healthcare professionals. Some participants shared stories of medical professionals administering the wrong treatment, which put their lives at risk.<br /><br />The emotional impact of GSDIa was significant, with participants expressing a desire for a better life, fear of death, and frustration. Mental health issues, anxiety, and body image concerns were also reported. Some participants even mentioned suicidal thoughts. Social and romantic relationships were affected, and daily activities, work, and family life were impacted due to the limitations imposed by the disease.<br /><br />The study identified the main concerns of people with GSDIa and caregivers regarding the disease, highlighting the need for better understanding and support. The results provide a valuable insight into the patient perspective in rare diseases like GSDIa.

Asset Subtitle

Presenting Author - Eliza Kruger, MHEcon; Co-Author - Hayley de Freitas, MS; Co-Author - Iris Ferrecchia, RN; Co-Author - Millie Gaydon, BSc; Co-Author - Andrew Lloyd, DPhil;

Meta Tag

Clinical History

Metabolic Disorder

Co-Author Hayley de Freitas, MS

Co-Author Iris Ferrecchia, RN

Co-Author Millie Gaydon, BSc

Co-Author Andrew Lloyd, DPhil

Presenting Author Eliza Kruger, MHEcon

Keywords

Glycogen Storage Disease Type Ia

GSDIa

metabolic disorder

rare disease

patient perspective

caregivers

daily impact

diagnosis challenges

emotional impact

support