The experience of therapeutic education in the management of children with ichthyosis seems important to share while publications are limited. The establishment of a TPE group which was constituted by health professionals seems mandatory because of a the strong sense of rejection expressed by the patients and their families, the impact on quality of life associated with the misunderstanding of the disease and the importance of multidisciplinary monitoring [10, 13].
In our study, we used a step-by-step approach. In brief, TPE group in close partnership with patients and their families identified the required skills for better daily management of the disease. An interview guide for educational diagnosis was created, and learning objectives specific to ichthyosis were determined. This stage of educational diagnosis was essential for better setting the difficulties and the actual resources of patients and their families before going further with the reinforcement program. The areas of need were noticed immediately among 31 families and consist of difficulties with social relationship, possible functional, motor and sensory impairment, and management of pruritus.
In general, patients with ichthyosis have common physical appearance, with typical facial aspect and hand roughness, sometimes associated with peculiar and unpleasant odor and skin peeling. Ichthyosis patients are thus often regarded unclean, as potentially contagious. This create a feeling of guilt in the affected children, who clearly don't dare ask any questions to the doctor nor call an adult. While in most cases the parents were aware of specific healthcare benefits for their children (88.6% of cases, Table 4), many were unaware of the availability of possible specific help at their schools (43.2%). This results in both the children and the parents in a feeling of inability to explain the disease to a community such as the school (Tables 3 and 4).
Apart from social difficulties, lack of skin flexibility can limit joint movements, prevent fingers to grow, interfere with fine motor skills, walk and grip due to skin cracks. Prevention of retraction or poor posture, is particularly important in children. Understanding how indispensable a multidisciplinary and regular management is crucial for the growing child. Neither the children nor their parents had understood the prevention of these motor and sensory complications.
Educational diagnosis has helped to define the expectations of a TPE reinforcement program and its required tools. The goal of therapeutic education of affected children is to help them to better understand their illness, the necessary treatments for their survival and comfort, and to perform their daily skin care. To achieve our goal, the multidisciplinary team of MAGEC center decided to elaborate a collective instead of an individual TPE program, away from a traditional healthcare setting, and designed as a fun tool. We focused on the educational value of classical learning in children through playing. We also emphasized the importance of help and support from the group, the emulation related to it, and on the positive value of self-esteem for the child, so that it would increase the patients’ "trust capital”. From the very first beginning of this program, it appears that this experience was positive, thanks to the special moments of communication that allowed throughout the weekend. We can also note from our results, that the patients and their parents acquired most of the objectives of this program especially regarding the fields of know-how and social skills (Tables 3 and 4).
However, further reinforcement sessions will be needed, such as the different options for pain management, which did not appear to be acquired at the end of the program. We acknowledge our evaluation tool may be improved. At a first sight, not everyone understood the word “analgesic” when used in the questions and it seems mandatory to find correct simple words for an optimal communication between caregivers and patients. Also, many products were only known to the families under their brand name. Therefore, further sessions will optimize tools regarding these items and patients and their families need to be more involved in the construction of these tools.
The mode of inheritance is also not always clearly understood. Several factors may explain this difficulty. The first is the heterogeneity of the mode of inheritance of ichthyosis in the patients' group. Each family, however, understood how its own syndrome/disease was transmitted. The second is the personal, intimate, or confidential aspect, in which parents often felt guilty of the "heredity" of the disease and thus refrained from asking questions in the framework of a group program. The issue of genetics must be treated in further individual TPE reinforcement sessions.
Seven unaffected siblings (mean age, 11 years old) were associated with this TPE program mostly for reasons of practical family organization. However, the experience confirmed the importance of holding TPE sessions for siblings as well, allowing a better control of a chronic disease that impacts the whole family history. Brothers and sisters ask themselves many questions but receive little information about the illness of their affected sibling. Therefore, specific TPE sessions may be proposed to siblings which should focus on personal need, i.e. genetic aspects of the disorder, and general information useful for social relationship.
In addition, a specific session for teenagers was deemed essential. For logistical reasons, we chose to include the six children, patients and siblings, over age 12 with the parents’ group. Teenagers’ participation was interesting, but we observed a resistance related to the nature of that particular group.
Overall, this original group program was a success for all participants, as shown by the families' responses to the satisfaction questionnaires (data not shown).
Most of the objectives set during the educational diagnosis were achieved throughout the program. This significantly helped the affected child (Table 3), but also his siblings (data not shown), to better understand the disease, better assert and defend himself when he suffers from his illness and the associative mockery. The aim of the treatments was better understood, the vigilance of adults regarding motor and sensory impairment were more motivated and the manipulation of treatments was improved. The dimension provided by the group was instrumental in removing the isolation of families and facilitated the acquisition of effective resources in the field of social integration. Clearly, a TPE program should include initial and reinforcement sessions supported by the analysis of educational diagnostics, and repeated with a frequency depending on the chronicity of the disease. In these diseases of neonatal origin, parents and siblings should be given the same attention as the patients. Also, the period of adolescence cannot be assimilated to that of childhood or adulthood, and requires specific and specially tailored TPE programs.
Finally, it became clear that a TPE program for patients in the context of rare, orphan and chronic disease is also a training program for the caregivers themselves. The design of a collective tool covering all areas of the patients' experience and, therefore, all the necessary multidisciplinary medical and paramedical management, has led care providers to “educate” themselves in the techniques and expectations of their colleagues and to better understand the disease in all its dimensions. Clearer, shared explanations, better mastered by different caregivers, allow them to avoid the collection of inaccurate information, which is a source of confusion and anxiety for families. This common language contributes to build a climate of trust among the different actors and preserves the privileged exchanges they establish. The benefits to caregivers were also important in terms of training, motivation and interaction. Evaluation tools for this dimension of TPE are being developed within the framework of our reinforcement program, which will combine individual and group sessions.