Table 2 Sample characteristics of patients and parents/carers

Age of patient (years)

0–5

N/A

N/A

66

25

6–12

N/A

N/A

81

30

13–17

N/A

N/A

34

13

18–24

21

4

33

12

25–34

75

15

18

7

35–44

94

18

8

3

45–54

124

24

11

4

55–64

115

23

12

4

65–74

66

13

4

1

 ≥ 75

14

3

1

0

Total

509

100

268

100

Prefer not to say

3

3

1

Missing

248

175

39

Age of parent/carer (years)

18–24

N/A

N/A

5

2

25–34

N/A

N/A

36

13

35–44

N/A

N/A

94

35

45–54

N/A

N/A

86

32

55–64

N/A

N/A

36

13

65–74

N/A

N/A

11

4

 ≥ 75

N/A

N/A

1

0

Total

N/A

N/A

269

100

Prefer not to say

N/A

N/A

2

Missing

N/A

N/A

175

Sex

Male

73

14

32

12

Female

434

85

235

88

Other

2

0

1

0

Total

509

100

268

100

Prefer not to say

3

3

Missing

248

175

Diagnosed with rare disease

Yes

736

98

400

91

No

17

2

38

8

Unsure

7

1

8

2

Total

760

100

446

100

Diagnosis confirmed with genetic test

Yes

223

30

255

64

No

402

55

110

28

Unsure

111

15

35

9

Total

736

100

400

100

Not applicable (undiagnosed)

24

46

Body system affected

Muscle, ligaments, joints (rheumatology)

438

58

232

52

Vision

432

57

114

26

Brain, nerves, spinal cord (neurology)

345

45

229

51

Digestion (gastroenterology)

337

44

222

50

Hearing

327

43

201

45

Bones, joints (orthopaedics)

318

42

205

46

Skin (dermatology)

314

41

129

29

Breathing, lungs (respiratory)

302

40

175

39

Chronic pain

296

39

166

37

Heart, circulatory (cardiology)

230

30

159

36

Diabetes, hormones (endocrinology)

188

25

95

21

Kidneys (nephrology)

178

23

115

26

Behavioural difficulties

153

20

128

29

Learning difficulties

65

9

175

39

Mental health (psychiatry)

35

5

229

51

Total

760

446

Number of rare diseases in sample

221

259

Top 10 most common rare diseases in sample (reported by patients, and reported by parents/carers)

1. Sarcoidosis

101

13

1. Behçet's syndrome

18

4

2. Behçet's syndrome

85

11

2. Trachea oesophageal fistula

14

3

3. Idiopathic intercranial hypertension

49

6

3. Aplastic anaemia

9

2

4. Lynch syndrome

26

3

4. Ataxia

8

2

5. Ehlers-Danlos syndrome

24

3

5. Rett syndrome

6

1

6. IgA nephropathy

24

3

6. Tuberous sclerosis

6

1

7. Ocular melanoma

17

2

7. Common variable immune deficiency

5

1

8. Common variable immunedeficiency

14

2

8. Dravet syndrome

5

1

9. Scleroderma

12

2

9. Huntington’s disease

5

1

10. Allergic broncho pulmonary aspergillosis (ABPA)

11

1

10. Multiple system atrophy

5

1

Patient’s living arrangements

Lives alone

115

23

N/A

N/A

Lives with a spouse or partner

289

57

N/A

N/A

Lives with family members or friends

99

19

N/A

N/A

Lives with a carer

2

1

N/A

N/A

Total

505

100

N/A

N/A

Prefer not to say

7

N/A

N/A

Missing

248

N/A

N/A

Parent’s/carer’s relationship to patient

Spouse or partner

N/A

N/A

23

9

Parent

N/A

N/A

192

71

Guardian

N/A

N/A

3

1

Grandparent

N/A

N/A

2

1

Sibling

N/A

N/A

2

1

Son or daughter

N/A

N/A

41

15

Other relation

N/A

N/A

1

0

Friend

N/A

N/A

1

0

Other

N/A

N/A

5

2

Total

N/A

N/A

270

100

Prefer not to say

N/A

N/A

1

Missing

N/A

N/A

175

Parent’s/carer’s living arrangements

Lives with patient

N/A

N/A

244

91

Does not live with patient

N/A

N/A

24

9

Total

N/A

N/A

268

100

Prefer not to say

N/A

N/A

3

Missing

N/A

N/A

175

Geographical region

South East of England

65

13

35

13

South West of England

61

12

26

10

Scotland

60

12

21

8

London

52

10

26

10

North West of England

51

10

34

13

East of England

42

8

17

6

Wales

39

8

9

3

Yorkshire

35

7

16

6

West Midlands

31

6

48

18

East Midlands

24

5

17

6

North East and Cumbria

23

5

14

5

Northern Ireland

15

3

1

0

Other

8

2

7

3

Total

506

100

271

100

Prefer not to say

4

0

Missing

250

175

Ethnic group

White

473

94

245

92

Non-white

20

4

15

6

Other

8

2

5

2

Total

501

100

265

100

Prefer not to say

9

6

Missing

250

175

Educational attainment

No formal qualifications

18

4

6

2

O level or GCSE

68

14

41

16

ONC or BTEC

21

4

14

5

A level ('Higher' in Scotland)

35

7

26

10

Higher education qualification

102

21

40

16

Degree or higher degree

252

51

130

51

Total

496

100

257

100

Prefer not to say

14

14

Missing

250

175