Table 1 Questions from the questionnaire, divided by topic group

A) DIAGNOSTIC PATH

• Time of Diagnosis: when was the diagnosis confirmed?

• Who Diagnosed: who made the diagnosis?

• Region of Diagnosis: was the diagnosis made in your home region?

• Time of Symptoms Onset: at what age did the first signs of Poland syndrome appeare?

B) QUALITY OF CARE AFTER DIAGNOSIS

• Difficulty to Find a Specialist for Treatment: Did you find it difficult to identify a specialist to treat your condition?

• Quality of Treatment: How do you feel that your disease is being treated?

• Impact: What impact did the difficulties you encountered in the treatment course have on you?

• Reference Figure during Treatment: Did you know who to refer to during the course of treatment?

• Feeling Understood during Treatment: Did you feel understood by the doctor during the communication process?

C) RIGHTS AND SOCIO-ECONOMIC HARDSHIP ENCOUNTERED

• Knowledge of tax Exemption: Are you aware of the possibility of accessing health benefits in relation to your condition?

• How Found Out About Exemption: How did you access the benefits of exemption and / or disease monitoring?

• Exemption: have you been given an exemption for your condition?

• Sufficiency of the Exemption: Does the exemption fully cover the diagnostic and therapeutic needs of your condition?

• Feeling of Protection: do you feel sufficiently protected by the health care structure of your region?

• Forgo Treatment: have you ever forgone some visits or treatments because of the costs or organizational issues you encountered?

D) COLLABORATION AMONG HEALTH CARE PROFESSIONALS

• General Practitioners _Pediatrician Role: How was the relationship with your general practitioner / pediatrician during the diagnostic and therapeutic clinical course?

• Collaboration: did your family doctor and specialist collaborate with each other?

E) ASSOCIATIVE SUPPORT AND ACTIVITIES

• AISP Usefulness: Do you think a patient’s association is useful for your pathology?

• AISP Advantage in care: Do you think that AISP has somehow facilitated your treatment path?

• Join AISP: Are you enrolled in the Italian association of Poland syndrome?

• Participate in AISP Activities: do you participate in the activities of the association?

• PolandDay Usefulness: Do you think AISP promotes your relationship with the various health services and operators?

F) SCIENTIFIC RESEARCH

• Volunteer: Would you like to contribute as a volunteer, even occasionally, to the activities of the Association?

• Research: Do you think that scientific research is important in finding the cause of Poland syndrome?

• GeneticDonation: Would you donate your genetic material for research?

• Family involvement in genetic research: Would you share the results of genetic tests and research with your family members?