Rare Diseases: Needs and Impact for Patients and Families: A Cross-Sectional Study in the Valencian Region, Spain

Abstract

Families with rare diseases (RDs) have unmet needs that are often overlooked by health professionals. Describing these needs and the impact of the disease could improve their medical care. A total of 163 surveys were obtained from patients visiting primary care centres in the Valencian Region (Spain), during 2015–2017, with a confirmed or suspected diagnosis of RD. Of the 84.7% with a confirmed diagnosis, 50.4% had a diagnostic delay exceeding one year, and it was more prevalent among adults (62.2%). Families with paediatric patients were in a worse economic situation, with lower incomes and higher monthly disease-related expenses (€300 on average). These expenses were incurred by 66.5% of families and were mainly for medication (40.3%). Among them, 58.5% reported not being able to afford adjuvant therapies. The disease had an impact on 73.1% of families, especially on their routine and emotional state. Expenses, needs, and impacts were more frequent among families of patients with a history of hospitalisation or deterioration. Patients with delayed diagnosis had a higher consumption of drugs prior to diagnosis. People affected by RDs in the Valencian Region need therapies to improve their autonomy and emotional state. Health professionals should be aware of these needs.

The Right to Ask, the Need to Answer—When Patients Meet Research: How to Cope with Time

“…RD individuals, given their unmet demands, turn to other physicians (medical shopping) with added costs on their finances and a massive emotional burden at the moment they face a growing number of disappointments when confronted with a new "nondiagnosis". Considering the economic costs, the need to travel to other health centers is one of the most frequent causes of spending compounded by a delay in diagnosis [35]. In a recent review, persons who experienced diagnostic delays visited more physicians than others who were diagnosed within one year from the first symptoms, with a quarter of them visiting as many as ten specialists or more during their search for a diagnosis [35].…”

“…Considering the economic costs, the need to travel to other health centers is one of the most frequent causes of spending compounded by a delay in diagnosis [35]. In a recent review, persons who experienced diagnostic delays visited more physicians than others who were diagnosed within one year from the first symptoms, with a quarter of them visiting as many as ten specialists or more during their search for a diagnosis [35]. Mistrust of the engaged diagnostic pathway often leads to unnecessary tests being repeated, with an additional burden on healthcare costs.…”

“…Parents of a child with an RD may even recognize themselves or their partner as "the guilty one" (the blame), triggering disruptive mechanisms and family disaggregation [39][40][41]. A strong impact on other numerous psychosocial aspects, such as the disruption of daily routine is common in all RDs; however, diagnostic delay further impacts such dynamics, affecting at least one-third of cases [35]. In general, the period between the onset of symptoms and the diagnosis has been described as the hardest and most psychologically painful.…”

“…The diagnosis then represents a turning point that allows families to start reconstructing their real life [38]. The diagnostic delay may also explain some other additional social and emotional issues within families, at least impacting half of the families who have suffered a diagnostic delay, according to the IRDiRC definition, compared to 17.5% of those who received a diagnosis in less than one year [35]. Profound changes in the psychological health of the parents of a child with an RD have been evidenced, particularly among mothers, that eventually end up negatively influencing their relationship with the partner [42,43].…”

Psychosocial impact at the time of a rare disease diagnosis

“…The functional repercussions of the disease were greater in persons who experienced DD, especially in terms of loss of independence due to the disease and loss of occupational or educational opportunities. This disruption in their daily routine is pointed out in other studies as one of the greatest impacts on the emotional and social sphere [41]. Among the possible causes would presumably be the worsening of the disease or its symptoms, and the fact of not receiving treatments, or if these were being received, of their being inappropriate [28].…”