Navigating the rare neurotransmitter disease diagnosis: insights from patients and health care professionals

Since neurotransmitter diseases are ultra orphan disorders, the diagnostic odyssey is markedly longer than for more common rare diseases. To elucidate the diagnostic odyssey, the authors, consisting of patient advocates and experts, designed questionnaires with the aim to evaluate the challenges of proper diagnosis and to identify the areas in need of improvement. Two questionnaires were designed, one for caregivers and one for health care professionals (HCP). The key questions aimed to evaluate the challenges of diagnosis and to identify the areas in need of improvement. A total of 61 patients' parents/caregivers were surveyed, 81% of them noticed symptoms before the age of 6 months, while 75% reported that their child was 12 months or older before a correct diagnosis was made. Notably, 47% of patients had at least one misdiagnosis. A total of 33 health care professionals were surveyed, of which 40% suspected that it may take up to 12 months, and another 39% 12 or more months, for children to be referred to an experienced specialist in their country. Interestingly, a growing trend emerges toward genetic testing. Early testing and improved collaboration between general practitioners and specialists, may shorten the length of time between symptom onset and correct diagnosis for neurotransmitter disorders. There is a growing movement, among affected families from neurotransmitter communities, who are encouraging the expansion of collaborative initiatives between HCP, scientists, and patient support groups. United efforts can significantly improve the diagnostic odyssey for patients and mitigate the protracted suffering being experienced. This article is protected by copyright. All rights reserved.