Table 2.
Participant responses of selected items
| Malaysia | CA | Total | P value | ||||
|---|---|---|---|---|---|---|---|
| n | (%) | N | (%) | n | (%) | ||
| I. What type of transportation does the patient use to go to the hospital? | 0.421 | ||||||
| Bus | 2 | (4) | 2 | (4) | 4 | (4) | |
| Car/Motorcycle | 47 | (89) | 50 | (93) | 97 | (91) | |
| Taxi/Hired car service | 3 | (6) | 0 | (0) | 3 | (3) | |
| Train | 0 | (0) | 1 | (2) | 1 | (0.9) | |
| Other | 1 | (2) | 1 | (2) | 2 | (2) | |
| II. Largest difficulty faced to receive satisfactory healthcare? | 0.042 | ||||||
| Lack of funds | 10 | (22) | 2 | (5) | 12 | (13) | |
| Lack of healthcare provider knowledge | 19 | (40) | 25 | (58) | 44 | (49) | |
| Lack of public knowledge | 5 | (11) | (58) | (19) | 13 | (14) | |
| Lack of time | 6 | (13) | (1) | (2) | 7 | (8) | |
| Lack of transportation | 1 | (2) | 0 | (0) | 1 | (1) | |
| Patient’s fear of burden on family | 2 | (4) | 1 | (2) | 3 | (3) | |
| Prior negative experiences in healthcare | 4 | (9) | 6 | (14) | 10 | (11) | |
| III. Tools Selected as Most Beneficial for those with Rare Diseases | 0.006* | ||||||
| Expanding patient support groups | 9 | (18) | 6 | (12) | 15 | (15) | |
| Expanding affordable transportation | 1 | (2) | 0 | (0) | 1 | (1) | |
| Expanding available funding for treatment | 7 | (14) | 4 | (8) | 11 | (11) | |
| Expanding newborn screening | 12 | (24) | 7 | (14) | 19 | (19) | |
| Expanding public awareness of condition | 8 | (16) | 5 | (10) | 13 | (13) | |
| Expanding the amount of tertiary and regional care centers in rural areas | 6 | (12) | 2 | (4) | 8 | (8) | |
| Expanding the knowledge of healthcare providers | 8 | (16) | 27 | (53) | 35 | (34) | |
| IV. Which medical professional made the correct diagnosis? | 0.001* | ||||||
| Geneticist/metabolic specialist | 31 | (66) | 17 | (41) | 48 | (55) | |
| OB/GYN | 2 | (4) | 0 | (0) | 2 | (2) | |
| Pediatrician/general practitioner | 4 | (9) | 0 | (0) | 2 | (2) | |
| Specialist | 8 | (17) | 22 | (54) | 6 | (7) | |
| Other | 2 | (4) | 0 | 0 | 2 | (2) | |
*Significant difference between proportions of MY and CA participant responses at significance level of p < 0.007 when using Fisher’s exact test. Significance level has been adjusted for Bonferroni correction using alpha of 0.05