Table 2 Unmet health and informational needs identified in think tank discussions – supplementary quotes

1 Information unmet needs

 1.1 Limited clinical information

  [1.1a]: Multiple Roles 1: “They [parents] don’t know where to get the information and, being so rare, a lot of very good clinicians don’t have that information.”

 1.2 Limited information about experimental treatments

  [1.2a] Patient/Family Member 5: “There’s a lot of information in the Internet about CDG but we cannot say whether it’s right or wrong. We already talked about Mannose [experimental treatment]. One says that’s the trick and others say: ‘Oh no, that’s not working’.”

 1.3 Language barriers

  [1.3a] Patient/Family Member 16: “All the info we got about CDG, we found on our own. (…) We found a Facebook CDG community group where we got answers. (…) We would like to disseminate this information for our Czech families. But (…) we don’t have so much time and energy, and we need to translate everything to Czech.”

2 Health care unmet needs

 2.1 Problems with diagnosis

  [2.1a] Professional 7: “In South America, at least in Chile, (…) if I’m suspecting a patient to have a CDG, I’m not able to request the testing and this is a big issue. I know that the testing is available in Argentina and Brazil, but we’re struggling to send the biological samples across the border (…) because we have more rules for biological samples.”

 2.2 Professionals’ limited awareness of CDG

  [2.2a] Patient/Family Member 1: “When I have to go to the emergency of a local hospital, they don’t know anything about CDG. (…) And when I got too many side effects, they just said: ‘Everything can be due CDG’. (…) So how can you create more awareness among doctors?”

  [2.2b] Multiple roles 9: “I feel that in our country [Italy] knowledge about CDG is now rather consolidated among paediatricians and metabolic doctors but it is not a sufficiently known among physicians that have adult patients in their care and also not, for example, among neurologists.”

 2.3 Complexities of CDG

  [2.3a] Multiple Roles 8: “One difficulty for the professionals is that CDG is a rapid and ever-growing group of disorders. So, even for professionals who are really interested in CDG, it’s a real task to be on top of the new diseases. (…) We are all limited for the time and efforts that we can put into the subject. We need to develop information packages that we can resort to.”

 2.4 Inexistence of treatment

  [2.4a] Multiple roles 1: “Researchers are not as interested [in rare diseases] because it’s hard to bring money in and pharmaceutic companies are not interested because it’s a very small market.”

 2.5 Unsatisfying care delivery

  [2.5a] Multiple Roles 10: “We have been in three different cities in the United States taking our daughter for care and one challenge that we definitely encounter is that not all doctors want to reach out to someone who may be a medical expert in a rare disease.”

3 Psychosocial needs

 3.1 Distress upon diagnosis

  [3.1a] Patient/Family Member 14: “We felt really alone [after receiving the diagnosis], because we could not understand what CDG was, what had happened: ‘And now? We go home with our child and what? What future will he have?”

 3.2 Diminished quality of life

  [3.2a] Patient/Family Member 18: “In the UK we’re really lucky because my son has been given disability living allowance and also [my husband was given] a carer’s allowance. So as long as he [husband] looks after him for over 40 h a week, he gets paid a certain amount of money by the government and also he is allowed to work to up to 16 h a week.”

  [3.2b] Multiple Roles 11: “There are lot of things [welfare benefits] that are really excellent in Germany. I believe in Sweden it should be as well, even better probably. (…) That might be a good argument to tell the insurance companies: ‘They have more resources so why can’t you give us that?”

4 Representation needs

 [4a] Professional 7: “People in Latin America don’t have the culture of associating (…). Also, their model of clinical relationship is a little different from the European or North American. My patients, I always ask if they want to contact other families and usually they don’t want to.”