Table 6 Main needs of specialist and patients around lysosomal diseases

Medical attention

Improving the diagnosis

10

9

Awareness among specialists is very important to speed up the diagnostic processes and to treat as soon as possible. This dissemination should start in the RD specialty centers/Units [HCP]

HCP medical awareness and education

10

6

Sometimes the practitioner that meets these patients does not have enough experience or assertiveness. When physicians [with no LSD-expertise] have one of these patients, they don´t know, who to turn to or what to do. [HCP]

Coordination between HCP

8

5

The case manager oversees all the process ensuring that all steps are done correctly, that patients don’t have duplicate and unnecessary visits. A case manager is obsessed with simplifying all channels and patient routes. And we do not have this figure at the moment… [HCP]

Treatment

Access to treatments

9

9

We tried very hard to get the medication approved for him [our son]. And not only us, also his doctor. I wondered «Will it be necessary for him to have a damaged organ so that they finally decide to approve his treatment?» [Patient]

Ease of administration

9

9

We are in love with Home Therapy. It is overwhelming, patients are very happy that they do not have to travel, and it represents a saving of around €60,000 per year. And despite that, it is delayed by the Administration. [HCP]

Scientific research

9

5

In 3–5 years, we have seen more progress than in the last 20. But the future of these pathologies lies in gene therapy, there is still a long way to go. [HCP]

Disease management

Information and dissemination about de disease

8

9

It would be necessary to have a communication channel with the doctor, by whatsapp, or an application that if something happens to you, you can consult them, especially if what happens to you is something important. [Patient]

Comprehensive approach of patients

10

9

When there is swelling of the legs due to a malfunction of the lymphatics, a specific lymphatic physio is very difficult to access. They are overwhelmed with work and highly sought after. [HCP]

Specific solutions to improve patient’s quality of life

8

10

It is a limitation. For example, picking things up off the ground, it seems silly, but it involves an effort that is often complicated for me. I have to keep the thongs in sight because sometimes it helps. [Patient]