Table 3:

Examples of patient and family contributions to the diagnostic process

Category	Example of patient/family contributions
Access to care	Trying to treat the [temporomandibular joint] TMJ is impossible. Insurance will not cover most treatments being recommended because dental will not cover it but health insurance is saying that it [is a dental issue]
	Lack of resource to find feeding therapists as well as the lack of therapist that provide the treatment
	Did not go for a(n) [Magnetic Resonance Imaging] MRI today as while going to the [appointment]. my wife who is also my driver became sick [and] we had to return home.
Clinical symptoms/history	I feel off balance and dizzy and I have had a hard cough for about 2 weeks now and it does not seem to be going away. My legs and feet have been swelling up just about every day on and off for the past 3 weeks.
	Chronic cough...vomiting has slowed since starting cyproheptadine but still happens at least 1–3 times a week...[patient has had] 7 ear infections since [date]; 4 Hospitalizations.
Information about medications	I have had constant chest tightness since [date] and have been seeing multiple doctors to try to figure it out. For years, I was managing it with albuterol, [tiotropium], and [fluticasone/vilanterol] but never really saw a difference.
	[Name] complains that she can’t always hear everything. She feels like she’s missing out on things the teacher says in school as well as at home. Her ears and throat hurt quite often. We have treated with allergy medication which does not seem to work.
Recent visits for the same problem/concern	I continue to have tightness in my chest when stressed or walking uphill. I [had a cardiac catheterization] at [another medical center recently].
Multidisciplinary clinical information	My breathing is a little improved but still not good. I went to the allergist but she said... she wouldn’t recommend allergy shots... I went to the Emergency Room at [Hospital] on [date] for palpitations. The doctor there said I should ask you to set me up with a cardiac event monitor. Chest X-ray showed platelike atelectasis in the left lung base.
Test/Referrals	I believe he is overdue for a swallow study
	We have not yet received lab results indicating if the infection is [methicillin-resistant Staphylococcus Aureus] MRSA or not
	We had a referral to your clinic in 2019, but we were told to keep calling because there were no appointments open. Then, I, her mother, became ill in the fall..., COVID occurred and we are only now getting this appointment.
Diagnosis/next steps	Is there genetic testing I should have done ([for] me, [my family]?) Will this progress into worsening hearing loss? Does [Name] need hearing aids? And what is the difference between cochlear implants vs hearing aids?
	The misdiagnosis of asthma in her chart that affected her Covid [Intensive Care Unit] ICU care. They discharged her while very sick with breathing issues but said it was in line with her existing asthma. [This worried me because] they didn’t [know that she doesn’t have asthma].
	[Doctor] in [another state] missed opportunities to investigate the issue with [Ear- Nose-Throat] ENT and failed to examine the bronchial tubes during her bronchoscopy though we were told ENT would be there. Also failed to give us images or video as requested.
Care Coordination; Confusing/conflicting information	His progress seems to be delayed because we seem to have to keep jumping through hoops to get any kind of plan or guidance, despite my multiple efforts. It also appears that there are too many people involved at this time, causing this to be more of a barrier than support to us.
	No team approach with my [providers]. It shouldn’t have taken a persistent mother to start finding answers on her own.
	Our hope is that there would be a medical professional that could help us figure out [Name] as whole. If any of her conditions are overlapping. Right now, she has many doctors but not much communication between them. Each person treats their own issue but we are often left as parents trying to figure out the puzzle.
	Making sense of his hearing loss; Unclear/conflicting diagnosis.
Communication issue; not feeling heard	I am very concerned that the problems... seem to have continued for the last five years, yet his [doctor] has not taken these life altering symptoms seriously.
	I have not received the answers to questions in regards to problems with my sons hearing and choking
	Dismissive [doctor], no clear rationale or risk/benefit ratio for endoscopy.
	I think that no one has underst[ood] our situation. I'm afraid of not being clear enough.
Other	Difficult to navigate the 504 process [school support plan for child with a disability] because felt I had gotten different advice in provider visits than [the hospital gave the] school