The birth of an unhealthy child adversely affects the lives, feelings, and behaviors of the family members. This could be a significant source of stress for the whole family [19, 20]. As parents have a child with a rare genetic disorder, their family life changes, and also new roles and responsibilities are assumed. Parents may have a feeling of shock, rejection, extreme sadness, guilt, and inadmissibility in the process of adapting to this responsibility [21, 22]. The long duration of the genetic diagnosis of children and the risk of rare disease for other family members could be one of the main causes of long-term anxiety disorders for parents [23]. During the diagnostic process, parents may feel hopeless and alone because of their child's illness's current uncertainty [6, 24]. Also, families may experience severe anxiety after the diagnosis that may prevent them from understanding and accepting their child's condition, interpreting events realistically, making appropriate decisions, participating in child care, and using appropriate coping strategies [20, 25, 26].
In this study, it was found that the state anxiety level of parents decreased significantly after the diagnosis. This significant result showed that further and well explanation of the disease appears to be key to alleviating parental anxiety. However, the long-term anxiety level was not decreased significantly after the diagnosis. The long time spent in the diagnosis of their children with rare genetic diseases and the expected difficulties may affect the anxiety level of parents, especially if the working families do not have ample time to cope with this anxiety as it was seen in this study. Awareness of anxiety, identification of causes, and taking preventive measures are crucial for the mental health of both parents and child. Therefore, providing psychological support to parents should be a target before and after diagnosing a child with a rare genetic disorder.
Help parents to cope with the stress may contribute to the treatment process of the sick child. It has been shown that parental anxiety may indirectly affect the anxiety level of the child. Thus, improvement of the parent’s anxiety may positively affect the disease process of their children by reducing their stress [9, 27].
Research to evaluate anxiety level in the family were conducted with quantitative methods until the 1990s [28]. In this study, the anxiety level of parents with rare diseased children before and after diagnosis was evaluated by the quantitative method STAI-TX form. In recent years, the importance and interest which are given to qualitative research have increased. Accordingly, it is recommended to use qualitative and quantitative methods together for further studies to have results that reflect the truth in all conditions.
The STAI form is a reliable personal inventory to evaluate anxiety [17, 29]. However, parents should also be tested for depression because of the common coexistence of anxiety and depression. HADS would be a reliable questionnaire to assess anxiety and depression symptom severity in parents of ill children [30]. Psychosocial Assessment Tool (PAT) is another successful example that can be used to determine the family's psychosocial status [31]. For further studies, variable tests can be used together with the STAI form to assess the requirement of psychological support for parents.
It was shown in the studies with a higher sample number of parents who had chronically ill children that especially mothers are psychologically affected by the health condition of their children [8, 32, 33]. In this study, pre and post-diagnosis anxiety levels of mother and father were evaluated. It was seen that the decrease of state anxiety level in mothers was statistically significant, while the decrease of state anxiety level in fathers was not statistically significant (p = 0.021 p = 0.711). Also, there were no significant differences between their decrease in anxiety levels of both scales (p = 0.072 p = 0.383). The limitation of this study was the sample size. The effects of diagnosis on anxiety level and differences in anxiety levels between mothers and fathers during the diagnosis would be understood better with higher sample size.
The first interview was conducted with parents one day before the appointment for learning the diagnosis of their child. To have a clearer understanding of the long diagnostic duration effects, the first interview would be conducted when parents are first admitted to the clinic. Also, the number of pre and post-diagnosis interviews might be increased. Thus, the effect of the long diagnostic process on the anxiety levels of families would be understood better.