Table 1 Questionnaire summary
Question topic | Question | Type of question |
|---|---|---|
Rare disease perspective | Which patient group are you representing? | Free text |
From what perspective is your interest in rare diseases? | Categorical | |
What is your particular disease of interest? | Free text | |
Does this disease belong to a larger group of diseases? If so, which? | Free text | |
Physical and psychosocial manifestations and presentation of disease | What primary medical specialty does this disease fall under? | Categorical and free text |
Which parts of the body or body systems are affected by this disease? | Categorical and free text | |
Do patients with this disease have a typical physical appearance or visual clues to an underlying disease? | Categorical and free text | |
Do people with this disease often have dental problems in childhood? | Categorical and free text | |
Do patients with this disease lose skills or abilities they had once learnt? This is sometimes called 'regression' | Categorical | |
Do patients with this disease have difficulties at school? (in the period from starting education to diagnosis) | Categorical and free text | |
When does this disease present? This means when does the average patient have signs or symptoms that lead to them seeking medical help? | Categorical | |
If you could choose three features of this disease that could be red flags for diagnosis, what would they be? | Free text | |
Does this rare disease cause an unusual presentation of a more common disease? e.g. Type 2 diabetes in children (Alström disease) or heart attacks in young people with no risk factors (SCAD). If yes, please give an example | Categorical and free text | |
Patient interactions with healthcare providers | On average, how many specialists do patients with this disease see while working towards a diagnosis? Including physiotherapy, OT, dietetics, optometry, speech & language therapy and audiology | Numerical |
On average, how long does a patient with this disease have to wait for diagnosis? | Categorical | |
Do patients with this disease often get misdiagnosed before receiving the correct diagnosis? Please give any common misdiagnoses given for this rare disease | Categorical and free text | |
Family history | Does this rare disease have a known pattern of genetic inheritance e.g. autosomal recessive/dominant or X-linked? Or do patients with this disease often have family members (close or extended) with the same disease? | Categorical and free text |
Do patients with this disease have a history or recurrent miscarriage, still birth, SIDs or unexpected complications in pregnancy in their family? | Categorical | |
Additional information | If you would like to elaborate on any of the above questions, please feel free to do so here | Free text |
Contact information | I would like to receive information on the following: • Updates on the results on the Red Flags of Rare Disease survey • Follow-up questions about my answers to this survey • Further information about Medics4RareDiseases (you will be added to the M4RD mailing list) • None of the above | Categorical |
Please provide us with your name | Free text | |
Please provide us with your email address | Free text |