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Table 3 Impact on habits and routines of patients and examples of comments about the impact of the disease

From: Understanding the ecosystem of patients with lysosomal storage diseases in Spain: a qualitative research with patients and health care professionals

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)

  1. FD: Fabry disease; GD: Gaucher disease; PD: Pompe disease; MPSI: mucopolysaccharidosis type 1