Introduction: Primary brain calcification (PBC) is a rare and intractable neurodegenerative disease. SLC20A2 and PDGFB are two major causative genes. As there is no effective treatment to avoid further progression or to prevent the onset of the disease, the patients may experience psychological distress. There is a qualitative study on the experiences of patients with primary brain calcification with SLC20A2 variants. However, the experiences of patients with PDGFB variants of the disease have not been explored. The purpose of this study is to identify the experiences of patients with PDGFB variants after diagnosis.
Materials and methods: Semi-structured interviews were conducted once or twice a year for three years with five patients over the age of 21. The data were analyzed using inductive qualitative methods.
Results: Seven categories, 15 subcategories, and 129 codes were extracted. The seven categories are as follows: [Shock at hearing the term 'brain calcification' for the first time], [Anxiety regarding the risk of heredity], [Anxiety, along with severe headaches, and various other symptoms], [Gratitude for the family members who care], [Accepting the disease as a non-life-threatening illness], [Feeling alienated due to the rare intractable disease], and [Modifying lifestyle due to the illness].
Discussion: The most stressful aspect of the disease was the headache that persisted even with the use of analgesics, which was different from patients with the SLC20A2 variants. In addition, we found unique concepts such as anxiety regarding the risk of heredity and a feeling of alienation due to the rare and intractable disease.