Ms Vicky McGrath:

I can jump in here. This is an interesting question. The biggest challenge we face in this regard is general awareness and we have made some progress in this area. A fabulous campaign is run in the US to raise awareness of rare diseases. It uses the symbol of a zebra to highlight that a galloping sound does not always signify a horse. One of our biggest challenges, therefore, is to make our GP community and healthcare providers more generally think about the possibility of rare diseases and realise that it is not always a common condition that is manifesting and that it is necessary to keep rare diseases in mind as well.

Realistically, however, with 6,000 rare conditions in existence, most GPs during their careers will only ever see a handful of patients with rare conditions, never mind someone from each of the categories. A patient, however, might be unfortunate enough to have a condition suffered by only 50 people globally. Recognition is a battle in that context. I do not fault our healthcare providers. They do not always have the time or opportunity to think about these rare conditions because they are very complex and that is where we need joined-up thinking in a European context. A person with a set of unusual symptoms could then start to access expertise across Europe and further afield internationally. It does sometimes happen.

One challenge that families in this situation typically face in the context of young children who have what may appear to be developmental delays is what they would describe as being fobbed off. The child will be fine in many cases, but, in some instances, that will not be the outcome. What is required is a match between a worried parent and a healthcare provider who will be able to determine whether the issues in question are real or provide reassurance that what is being experienced is perfectly normal. It is an interesting aspect, and I have seen this from a personal perspective with my child who has a minor issue. We do not know quite what it is and some five years later we are still trying to work out the answer. Parents reassure one another regarding these situations, however, and they are great at doing that.

More children being involved in the early childhood care and education schemes means they are now being seen by professionals who are very familiar with children and who may notice things that may seem a bit unusual. We must be able to build on that and ensure that parents are not left alone in a situation where it might seem they are just being overly worried. They must be able to have conversations with other professionals and parents. It is an ongoing battle and it will continue to be a battle for a long time, until such time as our doctors are able to know everything about all our conditions, which is never going to happen. This will always be an issue, but by building awareness we at least make our healthcare providers think of rare diseases and that is the first step. If they are thinking of rare conditions, there is at least the possibility of moving on more quickly.