Family Burden in Epidermolysis Bullosa is High Independent of Disease Type/Subtype

Abstract

Epidermolysis bullosa is a rare, inherited group of disorders characterized by blistering of the skin following friction or mechanical trauma. The aim of this study was to assess the family burden of epidermolysis bullosa in children aged 0-7 years. A postal survey was conducted. The perceived severity of the disease was evaluated by the caregivers, using the Patient Global Assessment 5-point scale. The caregiver received the Family Strain Questionnaire and the 12-item General Health Questionnaire to assess the probable presence of depression/anxiety. A single-item analysis was also performed for questions related to the burden of disease. Forty-two families were invited to participate. Data from 28 young patients and their caregivers were analysed (response rate 66.7%). The family burden increased with increasing caregiver's perceived disease severity, with increasing patient's body surface involved, and if parents had depression/anxiety, reaching statistical significance in several Family Strain Questionnaire scales. The family burden due to epidermolysis bullosa is very high independent of disease type/subtype.

The need of social support, life attitudes and life satisfaction among parents of children suffering from epidermolysis bullosa

“…While in the control group almost all parents declare a feeling of self-realisation by achieving professional and personal goals (see Table 5), in the group with EB only nine people declared that; 7 people feel a complete lack of self-realisation and 5 people are not able to define it, which is also an indirect indicator of the lack of self-realisation. Similar results were presented by Tabolli et al [10]. The difficulties and limitations which are the consequences of the incurable disease of a child require a support system to help effectively cope with it.…”

“…A large proportion of persons suffering from the disease consists of children and young adults. The studies are conducted on: -the demand for multi-dimensional care [5], including psychological support [3,4,6]; -the feeling of differentness and exclusion from peer groups [6,7]; -the influence of EB on the quality of life [2,8,9], -the influence of EB on the patient's family [8][9][10].…”

“…In the case of EB, there are practically no such studies at all. Only a few studies mention the influence of the child's disease on family life [10,17,18].…”

Keratin gene mutations in disorders of human skin and its appendages

“…It is increasingly becoming clear that mutations in many cutaneous-associated keratin genes lead to a variety of genetic skin diseases, characterized by compromised specified cell-tissue integrity, thus impairing the ability of the skin to form a proper barrier and withstand constant physical insults [1, 2]. …”

Adopting a Sustainable Community of Practice Model when Developing a Service to Support Patients with Epidermolysis Bullosa (EB): A Stakeholder-Centered Approach

“…Research documenting coping behaviors of individuals with EB has described some individuals living ''uncomplainingly'' with physical pain and psychological stress in order to cope with the disabling nature of the disease [15,17,18]. In addition, the impact on family and caregivers can include parental stress, marital difficulties, mental illness, and high levels of anxiety, irrespective of the EB subtype and regardless of financial status [19,20]. This could imply that people and their families living with EB are less likely to actively advocate for the essential supports they require.…”