The term rare diseases (RDs) refers to a large and heterogeneous group of diseases of which we have little knowledge due to their complex course, as they develop slowly with symptoms that are often nonspecific and highly variable, and their very low prevalence (<5/10000 individuals). Most have a genetic aetiology and are chronic and degenerative, so that they are disabling or limiting to a variable degree. The need for early diagnosis and multidisciplinary care in these diseases is increasingly evident.1,2 All of these challenges are compounded by other factors that hinder their management, such as the low availability and affordability of specific drugs and foods required for their treatment, the scarce knowledge of health professionals about RDs, and the lack of specific health care protocols.3,4

Given the health care, social and educational impact of these diseases, we need to assess whether nationwide government interventions succeed in improving the life of affected individuals and their families and meet their basic and special needs.5 Generally speaking, the social and economic impact of a RD on patients and their families have been addressed by patient organisations.6 Among the most salient studies on the subject conducted in Spain are the Studies on the situation of the Social and Health Care Needs of Individuals with Rare Diseases in Spain (Estudio sobre la situación de las Necesidades Sociosanitarias de las personas con Enfermedades Raras en España, ENSERio) 1 and 2, funded by the Federación Española de Enfermedades Raras (Spanish Federation on Rare Diseases) that assessed the economic, social, educational, health care, psychological and employment dimensions.3

The implementation of newborn screening programmes has allowed the early diagnosis and treatment of a few RDs. However, there are multiple factors that impair quality of life in these patients, which has led some authors to investigate their health-related7–9 and overall10,11 quality of life. There are also important psychological and psychiatric factors in some of these diseases,12,13 not forgetting the impact of psychosocial factors in the families of affected individuals.14 Several initiatives have been developed to explore and address needs in these areas that have so far been neglected in RDs, such the Rare Disease Strategy of the National Health System of the Spanish Ministry of Health (Estrategia en Enfermedades Raras del Sistema Nacional de Salud, 2013), and the Plan for the Care of Individuals Affected by Rare Diseases (Plan de Atención a personas afectadas por Enfermedades Raras, PAER) of the Department of Health of Andalusia,2 whose general purpose is to ensure adequate planning and management of health care resources used for the care of individuals with RDs and their families to guarantee a high quality of care and equal access.

The aim of our study was to assess paediatric patients with metabolic RDs followed up at one tertiary care hospital and their families or main caregivers.

We conducted a nonexperimental, cross-sectional descriptive study. We asked a total of 74 parents and/or legal guardians of paediatric patients with different inborn errors of metabolism (Fig. 1) managed in the paediatric clinic of a tertiary care hospital to be interviewed face-to-face or on the telephone. The final sample included 65 respondents, as 5 individuals declined to participate in the survey and we were unable to reach another 4 for the survey. The questionnaire was completed by the parent/legal guardian, or by the patient if the patient was free of intellectual or physical disability. The study was approved by the competent Ethics Committee.

Figure 1.

Prevalence of the different diagnoses in paediatric patients with inborn errors of metabolism managed at the Metabolic Disease Unit of a tertiary care hospital (N=65).

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We developed a questionnaire consisting of 70 closed-ended, single-answer items based on the needs expressed during patient visits and related to the variables gathered in the PAER 2008–2012 plan2 regarding needs and expectations in the health care, psychosocial, educational and economic (funding of diet and medication) dimensions. We collected data on demographic and other variables in the following areas:

Health care dimension: newborn screening, treatments used, special medication and diet, other health care services, financial cost and accessibility of these resources. We also analysed variables related to disability, dependence, financial assistance, health care, lack of coverage, scientific knowledge of the disease, help from organisations and research.

Educational dimension: type of education, school-based and home-based support, health professionals involved in school, bullying.

Psychosocial dimension: quality of life of paediatric patients and their caregivers, main caregiver categories, psychological support, family structure, employment, and other variables related to the need to care for the affected individual.

Our study revealed health care, socioeducational and economic needs of paediatric patients with inborn errors of metabolism and their caregivers that were not considered in the PAER. Similarly, the findings of studies focused on health care and social factors, such as the ENSERio studies 1 and 2, have demonstrated the economic, social, educational, health care, psychological and occupational impact of these diseases in affected children and their families.

Unlike other studies focused on specific diseases, such as phenylketonuria,15 galactosaemia16 or mucopolysaccharidosis,17 our study included patients with a variety of metabolic diseases. We ought to underscore that we assessed the quality of life of patients and caregivers in relation to their specific diseases by means of the questionnaire used in our study, similar to other instruments: the Paediatric Quality of Life Inventory,11,18 the WHOQOL Questionnaire-10011 or the Child Health Questionnaire 28-item Parent Form.18 However, the fact that we investigated different forms of metabolic disease may have also been a limitation in our analysis, as the fulfilment of associated needs may vary widely between diseases. In our study, we sought to assess these aspects in all patients followed in a specialised metabolic disease unit, regardless of their specific diseases, and, as was the case of the PAER, whether those needs were met appropriately.

Five family members of the total possible participants declined to do the survey, and the reason given for refusal was the death of the patient. This very small number reduces the risk of nonresponse bias by which the survey data would show a greater-than-actual satisfaction.

On the other hand, in agreement with previous studies, our data revealed the limited knowledge of health professionals regarding these diseases, which is often associated with diagnostic delays.19 Even though prenatal testing in subsequent pregnancies could have a significant impact on family planning in families that have already had one child with an inborn error of metabolism, few of these families receive specialised genetic counselling.20 A similar situation has been reported in other highly developed countries.3,4,21,22 The ENSERio and ERES studies in Spain revealed that the time elapsed from the onset of symptoms to diagnosis of RDs is almost 5 years in the adult population and 1 year in the paediatric population, figures that, compared to the delays in diagnosis in other, common diseases (severe or not) is quite substantial. Specific training of health professionals in RDs could contribute to reducing diagnostic delays and their negative repercussions, such as delayed or inadequate treatment and performance of unnecessary tests.23,24

When it came to medication and other health care products, patients reported having little to no access to what they required. As reported in the previous literature, the most frequent difficulties were the high price of these products, their low availability, or even the impossibility of obtaining them in the country of residence of the patient.25 Respondents also reported that Social Security funded required medication and health products only in part, which was consistent with the findings of the study conducted by the Federación Española de Enfermedades Raras,3 although level of coverage of specific expenses was not specified. In the paediatric patients in our sample, the high proportion that required medication or special dietary products not covered by the health system was compounded by the amount of services that were not offered on a long-term basis in the Spanish public health system, such as nutritionists, psychologists to support the family after the diagnosis, rehabilitation, physical therapy or speech therapy (Table 2).

Eighty-nine percent of patients in our study received some type of financial assistance from the state, although in other surveys families have reported that this assistance is quite insufficient to meet the needs of the patients, especially when it comes to medication.4

In our sample, 21.5% of the families perceived the health care they received as poor or just sufficient, and 62.5% considered primary care services deficient or barely adequate (Fig. 3), which was consistent with other studies, such as the EurodisCare-3, which ranked Spain as the European country with the lowest satisfaction (20%) with health care services related to the management of RDs.21 In the ENSERio study, the percentage of dissatisfied participants even exceeded 47%, which could be explained by the more than 200 different diagnoses it contemplated, of which some have extremely low prevalences,3 compared to the sample of patients with 16 different RDs in the EurodisCare-3 study. This perception seems to be associated with the scarcity of resources available in the health care system to manage these diseases and the lack of reference centres in the geographical area of the patients. To this we must add the lack of specific protocols or management strategies, not forgetting the very limited or incomprehensible information that health professionals give these patients.26

The educational attainment of parents may have a significant impact on the treatment of their children, as it can lead to a lesser adherence to dietary measures or other treatments.27,28 In our study, caregivers with a university degree were the minority, and 35.4% of caregivers had an education at the primary school level. Most patients were in general education classrooms, with or without additional support from the school that they attended, and these patients were subject to some type of bullying. As a result, some authors consider that these children should attend schools offering special education programmes to reduce the social pressure they experience.27

Other authors have focused on aspects related to educational services that have an impact on the quality of life of patients with inborn errors of metabolism, such as attention problems, school problems, lower achievement motivation, lower social skills, lower sense of autonomy and lower self-esteem. Self-esteem and family cohesion are the areas with the highest impact on quality of life, sometimes exceeding the impact of physical impairment or pain.29 In adulthood, these patients are also likely to suffer from depressive moods, generalised anxiety, phobias, decreased positive affect, social immaturity and social withdrawal12,13 independently of the management of the disease.30 In our study, we did not analyse these educational aspects with that level of detail, but assessed the need of additional educational support, which was perceived as needed in more than half of the cases and was delivered at the home.

Nearly half of respondents considered that their quality of life had substantially declined from the onset of symptoms. More than 50% of patients that required a modified diet associated this decrease to their dietary needs, although we did not find a statistically significant association between the impairment in quality of life and the need of a special diet, probably because our sample was too small to detect it. In a study with a similar sample size, Bilginsoy et al.31 noted that the management of the diet and its impact on the parents’ social life could be considered among the chief sources of stress in the family. This study also suggested that the special dietary needs of children were a factor that contributed substantially to the decrease in quality of life in their caregivers (48.5%). This evinces the need to develop strategies to facilitate the integration of specialised dietary treatment in the routine of the household, promoting adequate adherence and improving the quality of life of the patient and the remaining household members.32

Of the patients in our sample, 56.8% considered that the onset of disease had had little impact on their quality of life. This could be because when patients start treatment early with medication and/or a specific diet, and depending on the type of RD and the acceptance of illness, the improved outcomes influence this perception.11

Of the surveyed family members, 45% considered that their quality of life had diminished significantly since the onset of disease in their children, which in many cases required an additional caregiver, a reduction of working hours or even quitting work to adapt their lives to care for the patient (Table 4). Dependency in these diseases involves the need for personal care assistance, which usually falls to the main caregivers with considerable repercussions in their social life, work and education, especially in women.3,6 In fact, some parents try multiple adaptive strategies to integrate the complex protocols for the management of their children's disease in the daily routine of the household.33

Some authors propose that parental quality of life may be the best indicator to assess how parents are coping with their children's disease,34 defining quality of life as optimal physical and psychological wellbeing and social functioning and, as regards the dimensions associated to the child's disease, achieving emotional stability and satisfaction with family life. Emotional support and psychosocial wellbeing are key predictors of the quality of life of parents both at home and socially.15,35 For example, there is evidence of an association between a divorced and/or unemployed status of parents and low adherence to treatments.26,36 There are also studies that have assessed social factors, such as family social status based on the number of children in the family, the number of affected children, the educational attainment, employment status and marital status of the parents, and the need for intervention when certain factors are combined.26,37

For all of the above, psychological support and social counselling should be available through the public health care system.38,39 In our survey, most caregivers did not report receiving this type of assistance.

In conclusion, the results of our study show that the appropriate delivery of multidisciplinary treatment with a specific diet, medication and daily support services is affected by the inability of families to face its high costs and the low accessibility to these resources. These diseases have a considerable impact on the quality of life of patients, but especially of their main caregivers: nearly half of respondents perceived a very deleterious impact on their social, professional and family life. Thus, research should be conducted to assess the outcomes of health care, social and financial support programmes aimed at ill individuals and their caregivers to then address their needs.

The authors have no conflicts of interest to declare.