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Table 4 Patient journey positive and negative aspects from the patient perspective

From: Understanding the ecosystem of patients with lysosomal storage diseases in Spain: a qualitative research with patients and health care professionals

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

  1. ♦: Negative aspects; ♣: positive aspects