Table 2 Characteristics of rare diseases in the movies (N = 20)

Type of disease

 Severe combined immunodeficiency

2

10

 Craniodiaphyseal dysplasia

1

5

 Proteus syndrome

1

5

 Adrenoleukodystrophy

1

5

 Xeroderma pigmentosum

2

10

 Werner syndrome

1

5

 Osteogenesis imperfecta

2

10

 Morquio syndrome

1

5

 Cystic fibrosis

4

20

 Progeria

1

5

 Pompe disease

1

5

 Treacher Collins syndrome

1

5

 Fanconi anaemia

1

5

 Congenital central hypoventilation syndrome

1

5

Mentions/describes the disease

 Yes

15

75

 No

5

25

Describing etiology of disease

 Yes

10

50

 No

10

50

Describing/explaining symptoms

 Yes

15

75

 No

5

25

Symptoms occurring in movies*

 Immunodeficiency

3

15

 Abnormal growth

7

35

 Problems with movement

8

40

 Breathing difficulties

7

35

 Premature aging

2

10

 Muscle weakness

4

20

 Bone fractures

2

10

 Skin problems, i.e. blisters

3

15

 Seizures, convulsions

2

10

 Metabolic/gastrointestinal problems

3

15

 Neurological problems

2

10

 Heart problems

4

20

 Mental retardation

2

10

 Pain

7

35

 Caught

6

30

 Copious phlegm

4

20

 Blood spitting

1

5

 Fatigue/tiredness

2

10

 Loss of weight/inability to gain weight

6

30

 Loss of hair

1

5

 Loss of appetite

1

5

 Loss of concentration

1

5

 Loss of consciousness

2

10

 Loss of speech

1

5

 Mood swings

1

5

 Depression

1

5

Therapy

 Medications

6

30

 Operation

3

15

 Inhalations

4

20

 Enzyme therapy

1

5

 Unspecified experimental therapy

4

20

 Does not mention

4

20

 No therapy

15

20

Medications

 Yes

6

30

 No

14

70

Suffering

 Yes

9

45

 No

11

55

Hospital/palliative care

 Yes

7

35

 No

13

65

Death

 Yes

10

50

 No

10

50

Patient Advocacy Group

 Yes

2

10

 No

18

90