Table 4 DS caregivers’ experiences with the diagnostic journey
From: Caregivers’ experiences and challenges of the diagnostic odyssey in Dravet syndrome
N (%) | |
|---|---|
The doctor who referred a child for a diagnostic test | |
a doctor from the hospital where the baby was born | 4 (3.8) |
a family doctor | 3 (2.8) |
paediatrician | 5 (4.7) |
another specialist (e.g. neurologist, gastroenterologist, geneticist) | 78 (73.6) |
no one; we began the diagnostics ourselves | 16 (15.1) |
Have you sought help abroad at any stage of diagnosis? | |
yes | 21 (19.8) |
no | 85 (80.2) |
Test that led to the diagnosis | |
EEG | 2 (1.9) |
aCGH microarrays | 1 (0.9) |
genetic panel | 83 (78.3) |
Whole Exome Sequencing (WES) | 10 (9.4) |
SCN1A testing | 1 (0.9) |
other unspecified genetic testing | 9 (8.5) |
Did your child have a Whole Exome Sequencing test performed? | |
WES single | 11 (10.4) |
WES duo | 0 (0) |
WES trio | 18 (17) |
WES quarto | 5 (4.7) |
no | 72 (67.9) |
Did the WES genetic test confirm the diagnosis that was previously made? | |
WES test was not performed | 69 (65.1) |
yes | 28 (26.4) |
no | 9 (8.5) |
How did you find out about the WES test? | |
a family doctor at a clinic during a visit under the National Health Fund | 1 (0.9) |
a doctor during a the National Health Fund visit | 1 (0.9) |
a specialist in a hospital during the National Health Fund tests | 9 (8.5) |
a specialist during a private visit | 9 (8.5) |
The Internet | 19 (17.9) |
other parents/caregivers of persons with a rare disease | 15 (14.2) |
a support group for parents | 38 (35.8) |
I’ve never heard of this type of test | 14 (13.2) |
Source of financing for diagnostic tests | |
reimbursement from the National Health Fund | 50 (47.2) |
private financial resources | 34 (32.1) |
help from family, relatives, friends | 1 (0.9) |
support from foundations and associations | 3 (2.8) |
participation in experimental research | 2(1.9) |
public collection | 1 (0.9) |
participation in experimental research, university/hospital research grant | 15 (14.2) |
Did you receive psychological advice or counselling at any stage of diagnosis? | |
yes | 90 (84.9) |
no | 16 (15.1) |
Did you have contact with a genetic clinic during the diagnosis? | |
yes | 71 (67) |
no | 35 (33) |
What did you get from contacting the genetic counselling centre? * | |
we had no contact with the genetic counselling centre | 14 (13.2%) |
genetic test results | 63 (59.4) |
diagnosis | 30 (28.3) |
genetic counselling | 23 (21.7) |
psychological support | 1 (0.9) |
other | 13 (12.3) |