The European-based survey collected information from over 900 patients and caregivers from 25 countries; the responses show a need for both local and national governments to scale up their services for patients with rare metabolic diseases, which also have a positive spillover effects for caregivers.
Researchers are underscoring the need for improved supportive outlets for patients with rare inherited metabolic diseases based on responses from patients that indicated a lack of social, psychological, and economic support.
The European-based survey collected information from over 900 patients and caregivers from 25 countries and, according to the researchers, the responses show a need for both local and national governments to scale up their services for patients with these rare metabolic diseases, which also have a positive spillover effects for caregivers.
“In this respect, political actions together with social awareness campaigns are needed. Since it is possible that some of the services covered by the survey are actually available locally or nationally, but the patients are not aware of them, more effort is needed to disseminate this information among the rare metabolic community,” commented the researchers. “To this end, patients’ organisations should be involved to collect and disseminate the relevant information at a local and/or national level.”
Survey response revealed that the social services, including free educational and development services, were either unavailable or unknown to the majority of patients and their caregivers. Just 28% of respondents said these services were guaranteed. The researchers say particular attention should be paid to training social service workers, as patients have reported feeling that they felt social service workers are not well prepared to support them.
While the majority of patients (66.3%) and caregivers (70.2%) said psychological support is necessary, just approximately one third said such assistance is available to them, and similar findings were revealed when it the came to the availability of local medical assistance, specialized or emergency.
“Among the general rare disease community, most patients consider the costs associated with their illness to be high and difficult to manage, with around 50% saying that economic benefits or reimbursements were the least met needs,” wrote the researchers. “We can confirm those findings only partially based on the data collected on the costs coverage by local healthcare systems. Indeed, according to our results national health services in Europe cover all or part of the expenses for medications, medical devices, food supplements, dietary integrators, physiotherapy, and speech therapy for rare metabolic patients, although significant gaps still exist.”
According to findings, between one-third and one-fourth of patients and/or caregivers reported having no coverage or awareness of the coverage available for medical devices, food supplements, and speech therapy.
Sestini A, Paneghetti L, Lampe C, et al. Social and medical needs of rare metabolic patients: results from a MetabERN survey. Orphanet J Rare Dis. Published online August 3, 2021. doi: 10.1186/s13023-021-01948-5