. 2022 Jan 14;17:17. doi: 10.1186/s13023-021-02168-7

Table 4.

Patient journey positive and negative aspects from the patient perspective

Pre-diagnosis	Diagnosis	Treatment	Follow-up
♦ Annoying symptoms, but difficult to associate with LSD, especially when there is no organ involvement (i.e. fatigue, fever, respiratory difficulties, etc.) ♦ Continuous referrals to different HCPs until reaching the expert who would suspect an LSD ♦ Misdiagnosis ♦ Years pass by before reaching a diagnosis	♣ Relief of having a diagnosis that explains the symptoms ♣ Once there is suspicion of the LSD, appropriate access to testing ♣ Information transferred by the doctor gradually is perceived favourably ♣ Slow but relieving assimilation process: there is no cure but there is a treatment to attenuate the development of the disease ♦ Patient overwhelmed due to the high number of tests to be performed in occasions to reach a final diagnosis ♦ First time ever for patients to hear about their disease ♦ Difficult to learn of the progressive and limiting symptomatology ♦ Uncertainty about further details related to the disease ♦ Information overload on the Internet about the disease ♦ Emotionally affected when learning about the possibility of genetic transmission of the disease	♣ Reliance on the specific specialist ♣ Information about treatments delivered on the right timing ♣ Great expectations in treatment efficacy ♣ Huge emotional support provided by the nursing care service ♣ Great content with home therapy ♦ Red tape for treatment approval initiation ♦ Prolonged switch of treatment procedures ♦ Long waiting time during treatment administration ♦ High hospital dependence ♦ Uncertainty about treatment response of the patient	♣ Appropriate and satisfactory follow-up in terms of doubts resolution, carried out by the physician of reference ♣ Frequency of control and follow-up visits perceived as appropriate ♣ Excellent coordination among the healthcare specialists to carry out complementary testing ♣ Appropriate access to complementary testing ♦ Lack of knowledge of the disease by other physicians, especially GPs ♦ Difficulties arising from holidays organization or requesting recurring sick leaves

Pre-diagnosis

Diagnosis

Treatment

Follow-up

♦ Annoying symptoms, but difficult to associate with LSD, especially when there is no organ involvement (i.e. fatigue, fever, respiratory difficulties, etc.)

♦ Continuous referrals to different HCPs until reaching the expert who would suspect an LSD

♦ Misdiagnosis

♦ Years pass by before reaching a diagnosis

♣ Relief of having a diagnosis that explains the symptoms

♣ Once there is suspicion of the LSD, appropriate access to testing

♣ Information transferred by the doctor gradually is perceived favourably

♣ Slow but relieving assimilation process: there is no cure but there is a treatment to attenuate the development of the disease

♦ Patient overwhelmed due to the high number of tests to be performed in occasions to reach a final diagnosis

♦ First time ever for patients to hear about their disease

♦ Difficult to learn of the progressive and limiting symptomatology

♦ Uncertainty about further details related to the disease

♦ Information overload on the Internet about the disease

♦ Emotionally affected when learning about the possibility of genetic transmission of the disease

♣ Reliance on the specific specialist

♣ Information about treatments delivered on the right timing

♣ Great expectations in treatment efficacy

♣ Huge emotional support provided by the nursing care service

♣ Great content with home therapy

♦ Red tape for treatment approval initiation

♦ Prolonged switch of treatment procedures

♦ Long waiting time during treatment administration

♦ High hospital dependence

♦ Uncertainty about treatment response of the patient

♣ Appropriate and satisfactory follow-up in terms of doubts resolution, carried out by the physician of reference

♣ Frequency of control and follow-up visits perceived as appropriate

♣ Excellent coordination among the healthcare specialists to carry out complementary testing

♣ Appropriate access to complementary testing

♦ Lack of knowledge of the disease by other physicians, especially GPs

♦ Difficulties arising from holidays organization or requesting recurring sick leaves

♦: Negative aspects; ♣: positive aspects