Table 3.
Impact on habits and routines of patients and examples of comments about the impact of the disease
| High impact | Emotional | When they tell you that you are sick, your environment is very understanding about your illness and you feel protected, but over time they no longer try to understand you, they just feel sorry…and that is emotionally very hard. [FD] |
| Feeling helpless | ||
| Difficult childhood | ||
| Concern with contradictory information (on-line, RSS) | ||
| Work/school | I had to quit my job because I got really tired and could not keep up. It was hard for me to hit the pedals of the sewing machine. [PD] | |
| Inability to carry out some work/school related activities | ||
| Inability to get a steady job | ||
| Inflexibility to adapt to work/school schedules | ||
| Ignorance/Difficulty to get the disability retirement or social benefits | ||
| Family | I was so worried about my son. When they did the tests and they told me that he was also ill, I thought that he would not forgive me. [FD] | |
| Feeling of guilt owed to the possibility of genetic transmission | ||
| Deciding to have children or not can cause problems in the couple. Limitations to carry out daily activities with their partner and children | ||
| Impossibility of traveling or spending a period of time (i.e. vacations) away from the hospital | ||
| Social | When I was a teenager, I do remember that I had such a big belly that it attracted attention and people would stare at me, thinking «look at this girl so young and already pregnant». It was hard at the time and I even stopped going to the pool. [GD] | |
| Lack of understanding on the LSD-burden when there is absence of a differentiating external phenotype | ||
| Yet, being the target of jokes or contempt by others in patients with an obvious different phenotype | ||
| Medium | Stop doing things | I wish I could open a bottle or not being so dependent on my mother constantly. I have always had my hair short, so she does not have to comb my hair. [MPSI] |
| Stop doing daily activities such as doing sports, walking long distances, carrying shopping bags, etc | ||
| Exercise/physical therapy | I should do more, but the truth is that walking to go to work or to see my brother involves physical exercise and you cannot force the machine that much. [MPSI] | |
| Restricted physical activity | ||
| Having to perform less aggressive activities (i.e., walks, swimming, dancing) |
FD: Fabry disease; GD: Gaucher disease; PD: Pompe disease; MPSI: mucopolysaccharidosis type 1