Psychosocial issues and coping strategies in families affected by long-chain fatty acid oxidation disorders.

Long-chain fatty acid oxidation disorders (lcFAODs) are associated with a high disease burden due to both the risk of metabolic decompensation as well as chronic, partly irreversible complications in some. Little research has been performed on the impact of these disorders on the daily life of parents and caregivers. We performed a web-based questionnaire study among parents/caregivers of patients affected with lcFAODs. The questionnaire focused on challenges at different ages of the child, on disease management issues, schooling, family and social life as well as the parental job situation, and their overall attitude toward the disease and the future life of their child. Data were collected from parents/caregivers of 63 patients (87 respondents, 63% mothers, 36% fathers) with lcFAODs (median age of patients 8.0 years, range 0-25 years, long-chain 3-hydrocyacyl-CoA dehydrogenase deficiency 40%, mitochondrial trifunctional protein deficiency 14%, very long-chain acyl-CoA dehydrogenase deficiency 41%, carnitine palmitoyltransferase 2 deficiency 5%). The overall disease burden of parents was considered highest during infancy and decreased with increasing age of their child. More than one third of parents were afraid that their child's disease might have an impact on his/her career choice and adult life. Negative effects of the child's disease on the job situation and career development were more commonly reported by mothers compared to fathers. Although the majority of parents considered their child's metabolic disorder a severe disease, most parents had a positive attitude toward their child's disease and seemed to cope well with their situation.
Competing Interests: M.T. acts as chairwoman of the German patient organization for patients with fatty acid oxidation disorders (Fett‐SOS e.V., https://www.fett-sos.com/). She also participates as a patient representative in a patient leadership council by Ultragenyx GmbH. SFG and SR‐F declare no conflicts of interest. U.S. and S.C.G. declare participation in Ultragenyx Clinical Studies in glycogen storage diseases and fatty acid oxidation defects (with all funding paid to the institution) as well as adboard participation for Ultragenyx GmbH. U.S. was a member of the Nutricia Milupa EMG Advisory Board (temporary member 2022–2026, unpaid). S.C.G. declares lecture honoraria from Vitaflo GmbH and honoraria from Danone GmbH for the development of patient information material outside the submitted work.
(© 2023 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.)