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Table 2 Themes and topics related to quality of life in patients with Gaucher disease

From: Qualitative analysis of patient interviews on the burden of neuronopathic Gaucher disease in Japan

Theme

Topic

Main content of remarks

Example quote

Treatment status

Hearing impairment

Hearing loss

“Hearing loss is the biggest burden for me, but I can somehow hear things with hearing aids. I also think I’m causing a lot of trouble for everyone at work, but since I have told my work about my condition from the very beginning, I feel that I’m often getting a lot of help from others.” (Patient, type 3)

Visual impairment

Squinted eyes, difficulty closing eyes

“It’s hard for him/her to close his/her eyes once they are open, or his/her eyes stay half open. So, we use eye drops frequently.” (Father, Type 2)

“His/her eye movements (the way his/her eyes follow a moving object) are slow, so I think that is a symptom that I noticed. I think he/she isn’t good at it. For example, I noticed that his/her eye movements are slow when he/she is playing games.” (Mother, type 3)

Difficulty swallowing

Sputum-sticking sensation while sleeping

“I think he/she doesn’t like having sputum caught in the throat, which he/she suffers from at night.” (Mother, type 3)

Difficulty speaking

Difficulty talking

“I can talk like now, but I could not talk well before I started treatment. I felt like I was getting out of breath.” (Patient, type 3)

Involuntary movement of extremities

Convulsive seizure, feeling that body and face are twitching

“His/her hands tremble, and he/she cannot walk properly. His/her movement is rough/sketchy, because he/she is not good at doing detailed work. Going to school has improved this a little, but he/she still has trouble with doing detailed things.” (Father, type 2)

Epileptic seizures

Epileptic seizures; anxiety about onset or possibility of epileptic seizures at school/in work

“His/her symptoms are controlled by using a lot of medicines, but he/she starts to tremble when we try to reduce some of the medicines that he/she is using. That is his/her current situation. It was the worst when he/she was 2 years old; he/she experienced whole body rigidity and kept trembling (like a massive epileptic seizure) for 2 h. This happened about 6 times a day, almost every day for a year.” (Father, type 2)

“When I used to have seizure attacks, I was in an ambulance twice a week, or even three times a week at worst.” (Patient, type 3)

Body aches

Fatigue after treatment; body tilting; body stiffness; bone fractures occurring when only changing position

“His/her bones are very weak. When we took an x-ray, his/her bones looked like an eggshell. He/she has fractured his/her bones even from changing body positions. He/she has been fracturing his/her bones once every 3 months.” (Father, Type 2)

“He/she sometimes tells me that his/her feet are painful. I don’t know if they are from the Gaucher disease, or if they are growing pains.” (Mother, type 3)

Patient burden

Anxiety about symptoms

Epileptic seizures

“The current treatment doesn’t seem to work on the neurological symptoms, but it seems to have worked on the hepatosplenomegaly. So, we are somewhat satisfied. It doesn’t work on the neurological symptoms, so it hasn’t helped him/her with the movement, or his/her swallowing difficulty; I’m not complaining but I’m worried about that.” (Mother, type 3)

Difficulty with exercise and work

Anxiety about onset or possibility of epileptic seizures at school/in work

“Because I still experience few fractures, I can still work normally. But I always tell my workplace about my illness.” (Patient, type 3)

“He/she was extremely poor at exercising. He/she wasn’t good at doing detailed tasks either… Every time he/she learned something new, there was something that he/she couldn’t do as much as others. He/she was eventually able to do it, but it took some time, like as if he/she was a slow starter.” (Mother, type 3)

Anxiety about continuing treatment

Feel uneasy about how long treatment will be continued

“We don’t know when the clinical trial will end. We don’t know how many years it will take, and when this treatment will become available on the market.” (Patient, type 3)

Anxiety about going out

I feel anxious about the risk of infectious diseases when going out, including going to the hospital

“We are worried about getting infectious diseases. Especially with infectious diseases, there is a risk of infection from going to the hospital, so we wish he/she could get treated at home without going to the hospital.” (Mother, type 3)

Tiredness from hospital visit or treatment

Burden of traveling because the hospital that can provide enzyme replacement therapy is not in the neighborhood

“We need to take him/her to the hospital once every 2 weeks to receive enzyme therapy, and it is expensive because it costs about 300,000 yen. Considering that it is a rare illness, there are various complications. We have to take him/her to a specialized hospital, not a nearby hospital; we have to arrange a welfare vehicle to go to the hospital.” (Father, type 2)

“I think it is pretty burdensome to get enzyme replacement therapy when he/she goes to an ordinary school. We decide on a day to go once every 2 weeks, so he/she cannot attend the class on that day.” (Mother, type 3)

Social support systems

Dissatisfaction about government service

As “Gaucher’s disease” is unrecognized as a disease name by government offices and public institutions, it is burdensome to explain

“When we take documents related to the system or subsidies to the government office, and we say “Gaucher disease”, we get told that there is no such thing because it is registered as lysosomal disease. In general, the person in charge of these welfare and intractable disease systems is replaced every 1–2 years, so this gets repeated again and again. So, it would be nice if there is a department that can handle all of these specialized diseases professionally if possible, and that can be said for any intractable diseases.” (Father, type 2)

Lack of social support

Do not have information about support system

“When it comes to long-term care insurance service for elderly, or ≥ 40 years old, I think care managers are available to help out. There must be a lot of services available for these people. However, medical care for children is done by us a lot of the time, and the service that we can get depends on what information your attending physicians provide you with. So, I think it would be nice if someone could help with this.” (Father, type 2)

“The thing I would like to get help with the most is school drop-off and pick-up from now on… Although it is nice to drop him/her off, and pick him/her up from school, he/she loves school, so I think he/she would find it exciting to go to school by himself/herself.” (Mother, type 2)

Information exchange in patient association

Can exchange information or have a consultation with patients with the same disease type

“Even if we had the same disease type, patients experience different symptoms. There are people who are in a different situation from me. When I’m lost, I ask people who have similar symptoms as me. I ask what I should do and I feel a sense of security.” (Patient, type 3)

  1. Themes and topics identified by qualitative analysis of patient interviews