Abstract
What is this summary about?
Long-chain fatty acid oxidation disorders (LC-FAOD for short) are a group of rare conditions where the body cannot use stored fat for energy. This leads to symptoms and health problems that can be life-threatening, but the impact of LC-FAOD on the everyday life of people with LC-FAOD and their caregivers has not been well studied.
What was done?
We conducted a burden of illness survey in the United States of people with LC-FAOD and their caregivers to help show the impact of this condition on their everyday life. The survey had 44 people who completed the survey (respondents): 14 adults (≥18 years) living with LC-FAOD and 30 caregivers reporting on 37 people with LC-FAOD. People with LC-FAOD reported on in the survey were 8 months to 67 years old (the average age was 16 years).
What were the results?
We found that the LC-FAOD symptoms impact people differently through the stages of life. People with LC-FAOD and their caregivers reported an impact on school and work, including missing work; the main reasons were hospitalizations (staying in the hospital as an inpatient) and physical symptoms. In addition, many people had trouble performing everyday activities, such as standing for 2 hours, walking a quarter of a mile, moving heavy objects, and doing household chores. Using a standard questionnaire, we found that the overall quality of life of people with LC-FAOD was lower than for the average American who does not have LC-FAOD.
What do the results mean?
The findings from the survey help show how LC-FAOD can impact the everyday life of people living with LC-FAOD and their caregivers. The findings provide people with LC-FAOD a better understanding of their condition and what they might expect. The findings also help researchers and healthcare providers support people with an LC-FAOD and their caregivers.
TWEETABLE ABSTRACT
This study provides people with LC-FAOD with a better understanding of their condition and what they might expect. This survey will also help provide the best support to people with LC-FAOD and their caregivers.
This is an abstract of the Plain Language Summary of Publication article.
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Link to original article here
Financial disclosure
Funding for this survey was provided by Ultragenyx Pharmaceutical Inc. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.
Writing disclosure
Medical writing support for this plain language summary was provided by Janelle Keys, PhD, CMPP, of Envision Pharma Group, and was funded by Ultragenyx.
Acknowledgments
The authors thank all survey respondents for their participation in the study and their valuable insights. The authors also thank the study sponsor, the people with LC-FAOD and their caregivers, and the physicians treating people with LC-FAOD who helped develop the survey. The authors thank Nina Thomas (previously Ultragenyx), Miller Judge, John Galla, Jeffrey Kung, and Diego Rodriguez (all from Magnolia Innovation, Hoboken, NJ) for their contribution as authors on the original manuscript.
Competing interests disclosure
Christy Abrams is a caregiver of 2 people with LC-FAOD and has no conflicts of interest to declare. Eliza Kruger is a previous employee of Ultragenyx Pharmaceutical Inc. Kristin Voorhees is an employee of and stockholder in Ultragenyx Pharmaceutical Inc. The authors have no other competing interests or relevant affiliations with any organization or entity with the subject matter or materials discussed in the manuscript apart from those disclosed.