Dr. Ciara Martin:

Rare diseases, by their nature, are rare. That makes it difficult. We are making the world smaller by being able to search online for experts who are working in areas. Families are coming to clinicians or doctors with information on diseases that they have obtained from the Internet. Then, by means of the NRDO, etc., we are able to look at people who are specifically looking at a rare disease. This may be a disease that, for example, one in 100,000 people will have. If you have that, you may be the only person in Ireland who has it. In that case, you will want to link up with people across Europe or across the world who have a similar disease. You will want experts looking after you to have the required knowledge. If there are enough people and there is a company that is willing to put a drug forward for trial, then a number of people will be able to co-ordinate in a community and participate in a trial. Ideally, if it is a drug trial, there will be a number of people on the drug and a number on a placebo. They will not be aware whether or not they are receiving the drug. Then you need all the rigour that goes with the clinical trial, such as close attention to side effects and whether the medication is delivering what it says it will.

For every drug that comes forward as an orphan drug and gets licensed, there are many others that will not. Unfortunately, families will go through clinical trial and it will not deliver the results that were expected. It is a difficult area to be involved in. It requires much rigour on the part of the families, the clinicians and the doctors and nurses who are looking after their patients on the trial. However, it is worth it when it delivers something like a cure. It requires careful co-ordination with the right people to make sure that you are getting the right information at the right time. That is where our ERNs are worthwhile.