Table 2 Physicians’ knowledge about rare diseases
Characteristics | N (%) |
|---|---|
Have you ever heard the term ‘rare diseases’? | |
 Yes | 164 (99.4) |
 No | 1 (0.6) |
A rare disease is the one that affects less than: | |
 1 person in 1000 | 11 (6.7) |
 1 person in 2000 | 30 (18.2) |
 1 person in 3000 | 1 (0.6) |
 1 person in 5000 | 13 (7.9) |
 1 person in 10,000 | 91 (55.1) |
 I do not know | 19 (11.5) |
What is the estimated number of rare diseases? | |
 100–500 | 21 (12.7) |
 1000–2000 | 34 (20.6) |
 3000–5000 | 23 (14) |
 6000–8000 | 34 (20.6) |
 9000–10,000 | 4 (2.4) |
 Over 10,000 | 28 (17) |
 I do not know | 21 (12.7) |
In what age group do rare diseases most frequently appear? | |
 Newborns | 38 (23) |
 Children | 89 (53.9) |
 Adolescents | 1 (0.6) |
 Adults | 7 (2.4) |
 They are present in all age groups equally | 22 (13.3) |
 I do not know | 8 (4.8) |
How many people suffer from rare diseases worldwide? | |
 10–15,000,000 | 36 (21.8) |
 50–75,000,000 | 23 (13.9) |
 100–150,000,000 | 28 (17) |
 200–250,000,000 | 10 (6.1) |
 300–350,000,000 | 27 (16.4) |
 Over 500,000,000 | 3 (1.8) |
 I do not know | 38 (23) |
How many people suffer from rare diseases in Poland? | |
 500–1000 | 29 (17.6) |
 10–15,000 | 28 (17) |
 50–75,000 | 19 (11.5) |
 100–150,000 | 20 (12.1) |
 300–500,000 | 13 (7.9) |
 1,000,000 | 5 (3) |
 2–3,000,000 | 26 (15.8) |
 Over 5,000,000 | 1 (0.6) |
 I do not know | 24 (14.5) |
What is the most common cause of rare diseases? | |
 Infectious and bacterial | 0 |
 Genetic | 148 (89.7) |
 Autoimmune | 8 (4.9) |
 Mitochondrial | 6 (3.6) |
 Environmental | 0 |
 I do not know | 3 (1.8) |
What percentage of rare diseases are of a genetic origin? | |
 5–10% | 6 (3.6) |
 20% | 18 (10.9) |
 50% | 43 (26.1) |
 80% | 83 (50.3) |
 100% | 9 (5.5) |
 I do not know | 6 (3.6) |