The difficulties that patients with long chain fatty acid oxidation disorders (LCFAODs) and their caregivers face when navigating the healthcare system have been summarized in a presentation by Eileen Sullivan Baker in the penultimate of the 2022 lecture series of the International Network for Fatty Acid Oxidation Research and Management (INFORM).
Eileen is a mother whose son was diagnosed with trifunctional protein deficiency, one of 6 types of LCFAOD, at the age of 14 years.
During her presentation, Eileen stressed that the burden of navigating the healthcare system imposed on patients living with LCFAODs and their caregivers as well as healthcare professionals is underrecognized and that more needs to be done to alleviate this burden.
She said that the willingness of a healthcare provider or emergency room staff to learn about FAODs and to openly communicate can help improve disease management. These conclusions were reached through ongoing, open, and unstructured discussions with people living with LCFAODs, their caregivers, and healthcare professionals.
Read more about the types and causes of LCFAODs
The challenges in navigating the healthcare system that was identified through these discussions included a lack of healthcare professionals with knowledge about LCFAODs, and a lack of support and transition care for newly diagnosed patients and their caregivers.
Challenges associated with educating healthcare professionals included emergency room staff, difficulty in navigating insurance coverage both for tests and for treatment, having to serve as the intermediary between the care team to ensure that they are in line, and the difficulty of managing the mental health of the patient as well as that of the caregiver and the rest of the family.
Eileen also proposed new ways of supporting the management of LCFAODs to make sure that individuals living with the disease receive the best possible care. These include establishing access and trust between the family and healthcare professionals, providing adult support, conducting mental health and time burden research, setting up peer-group networks, and increasing awareness and resources.
The full presentation is available online.
Baker ES, Botham J, Rechisky T, et al. Burden of health care system navigation on people living with LC-FAOD and their care team. Lecture presented as part of International Network for Fatty Acid Oxidation Research and Management (INFORM) 2022 lecture series: June 20, 2022; Virtual.