Table 1 The outcomes of the EURORDIS ERN ITHACA focus group discussion

Rare is common

ERN ITHACA is distinctive in attempting to encompass diagnostic and care approaches for a large and variable number of rare conditions. The focus group felt that there is a lot of common ground to be found despite this variability.

‘All rare diseases have something in common, we all have psychological issues, self-image, self-trust and psychosocial. You are part of the world, in your class, at work it has an impact, this is common, you’re limited, you’re not part of a group. How do we deal with this’

‘The patient should have a unified ID, not the condition, because they are very different

‘Added guidelines –‘what is the best thing to do for the child, what’s the best thing for the adult?’

‘Clinical Guidelines don’t involve specific interventions for kids, I mean for individuals. Like physiotherapy, like music therapy. We talk a lot about diagnosis without treatment so I think we should include this type of guideline too’

Access

There was a clear expectation that ERN ITHACA should improve patients’ access to experts for diagnosis but also provide guidance to other specialists for appropriate care and management.

‘Patients need answers now, as soon as possible. I mean it takes time for change, if change takes place. It’s nice to plan them but we need answers as soon as possible, not in 5 years.’

Interestingly they also thought that the ERN should be an ‘information hub’ about rare diseases for the general public.

‘I think it’s important for children with multiple birth defects that go from one clinician to another at a time, to have an authority such as the ERN to help solve the problem. This is the basic fact, it is not [just] that you have experts it that you have responsible use.’

‘We are such a fantastic resource when it comes to training for all the medical professionals and to be included in their training is very much appreciated, I find’

‘[the] main added value is the diagnostic aspect and probably to develop some sort of guidance to the centres how to communicate and how to ask for support in how to diagnose the cases.’

‘Do the public know about the ERN, I mean not just the patients but the public.’

Mapping

A key part of the discussion focused around the role of ERN ITHACA in mapping relevant services in different countries including specific deficiencies. The participants perceived this as a working plan for developing appropriate processes onwards.

‘We should start with finding out which are the state of the art and to find out what kind of resources we have currently’

‘Collect all the resources; guidelines, service use, training courses, leaflets, information, platforms, everything. A first step’

‘We could map all existing sources of education and develop from what we have, because there are a lot of resources’.

‘First you have to share the guidelines that are existing, after that you can see what’s missing. But I don’t think you can have one guideline for all the diseases, you have to have one guideline for each one and that’s a challenge how to go about that.’

‘It’s a very important part, if it is developed into the ERN this type of guideline [supportive treatment] it should be more recognised at national level and services that usually are provided for therapy would be better recognised and more valued by healthcare systems.’

Patient Centered approach

The group specifically expressed that patients and support groups should be major stakeholders in outlining the strategy of the ERN. This included rating the professionals involved; and teaching and training.

‘This type of information [Annual Health checks] could tie into registry consent. Sometimes you feel abandoned, you would be able to update your information.’

‘Expert centres [should be] appointed by patient organisations. Orphanet is nice but I think expert centres in the main hospitals should be on a list.’

‘Experience shows everyone performs better if they are awarded. It’s good to evaluate, patient’s evaluate, the way they do for hotels, you would be surprised they may be knowledgeable but they mishandle people.’

‘We should include training the other way to look at how you cope with chronic conditions’

‘We should include training resources for the patient and family, to increase their resilience.’

‘follow patients for many years and then share this with other patients to get an overview of this particular disease’

‘…most rare diseases have psychosocial aspects too, it’s not mentioned anywhere, specialist physiotherapy.. it’s not just the same as physiotherapy. Education of the patients is very important in what to do.’

‘I was thinking, I’m not sure if this fits but education of the parents with the new findings, that kind of thing.’