Table 2. Age at diagnosis and parents' experiences of the journey to diagnosis.
| Participant pseudonym | Pseudonym of son(s) with DMD | Parent-reported age at diagnosis | Audit age at diagnosis | Age at which parents first noticed symptoms | Time between noticing symptoms and obtaining diagnosis | Themes about parents' experiences of the journey to diagnosis with illustrative quotes from participants |
|---|---|---|---|---|---|---|
| Hilda | Mark | ‘seven and a half' | Unavailablea | ‘about four' | 3 years 6 months | Noticing symptoms and reaching the ‘tipping point' “I remember just being frustrated …I just thought …'is it me being silly or am I not handling this child properly?'…I just thought… wait and see what happens …until I just thought one day, ‘enough's enough'.” Lucy |
| Janice | Robert | ‘a month before his eighth birthday' | 7 years 11 months | ‘say three and four' | 3 years 11 months to 4 years 11 months | |
| Laura | Christopher | ‘just before he turned three' | 3 years 2 months | ‘eight months' | 2 years 6 months | |
| Lucy | Victor | ‘I'm pretty sure he was only two' | 2 years 6 months | ‘about six months' | 2 years | |
| Mabel | Gabriel | ‘three, three and three quarters' | 3 years 7 months | ‘about a year old' | 2 years 7 months | |
| Mary | David and Simon | ‘five and a half and three and a bit' | David—4 years 5 months Simon—2 years 5 months (diagnosed on David's biopsy) | Did not notice symptoms | Not applicable | Actively searching for a diagnosis: experiencing frustration “...[we went] to the local GP, and … she put us on to go… see the first [specialist]…about his feet…‘cause [he] just wasn't walking and [then it] was his ears because of his balance, and then [he] got his eyes tested. So there was quite a few [specialists] over a span of about a year…” Ben |
| Samantha | Jeff | ‘a week before his second birthday' | 1 year 11 months | ‘at about ten months' | 1 year 1 month | |
| Ted | James | ‘could have been three, three and a half' | 3 years 8 months | ‘six months' before diagnosis (2 years 6 months) | 6 months | |
| Ben | Stanley | 10/11/2005 (3 years 3 months)b | 3 years 3 months | No age given | Unable to be determined | |
| Melissa | 10/11/2005 (3 years 3 months)b | 3 years 3 months | ‘13 months' | 2 years 2 months | Receiving false reassurance from health professionals “…the pediatrician did not even… look at Duchenne's. He just kept saying there's nothing wrong with the fact that my son walked on his toes and [was] falling a lot. ‘Nup! There's nothing wrong with him.'[so] we took him to a new pediatrician who diagnosed him (snaps fingers) like that.” Janice | |
| Jake | Caleb | ‘just a fraction over two' | 2 years 2 months | ‘one or so' | 1 year 2 months | |
| Pauline | ‘two and two months or something' | 2 years 2 months | ‘about nine or ten months' | 1 year 4 months to 1 year 5 months | ||
| Keith | Roger | ‘when he was two and a half' | 2 years 8 months | No age given | Unable to be determined | |
| Melanie | ‘nearly two and a half' | 2 years 8 months | No age given | Unable to be determined |
a
Mark's name was not found on the Victorian Clinical Genetics Services database of tests ordered for Duchenne muscular dystrophy. Mark resided in Perth at the time of his diagnosis; consequently his diagnostic tests may have been performed by a laboratory in Western Australia.
b
Ben and Melissa quoted the actual date at Stanley's diagnosis and this date was corroborated by data from the audit.