Skip to main content

Table 3 Answers from six patients to the interview questions

From: Research priorities for rare neurological diseases: a representative view of patient representatives and healthcare professionals from the European Reference Network for Rare Neurological Diseases

Why did you choose the theme 'Developing therapies and preventive strategies' as most important?  
It evokes in me the hope of anticipating and controlling the evolution of the disease.  
I believe that, regardless of the situation and personal involvement, it is essential that everyone is committed and involved in research in order to achieve a better quality of life.  
For me medical research is very important  
(1) to be able to develop strategies to help to diagnose a patient as early as possible in order to avoid any further psychological problems posed by diagnostic delay. It is very important too that a diagnosis be posed as early as possible in order to offer preventive strategies to enable the patient to continue his/her lifestyle as long as possible.  
(2) In the long term to develop therapies to help slow or even cure the disease.  
These two aspects have priority for me, as a therapy could alleviate or slow down the progression of the disease. In addition, one could prevent a possible manifestation in children who have inherited the defective gene. With such a possibility one would certainly be able to reduce the psychological problems of the patients.  
It feels like it would be the most impactful area of research for me in terms of having the potential to change the outcome of how the disease would impact me personally (managing/preventing it).  
To the extent that, to date, it is still not possible to reverse or "repair" neuronal lesions, and that we have elements to know the potential for future patients, this seems to me to be an avenue to consider.  
What is your opinion on the theme 'Disease mechanisms and models'?  
It is not very clear to me.  
I think it depends a lot on the type of illness. In some cases studying mechanisms and trying to make "models" is useful not only for researchers, but also for doctors who have to recognise the disease or exclude it. I think, therefore, that it is very important to study it as much as possible in order to understand it and deal with it in the best way.  
I do find that it is important to do research on how the disease appears and spreads, why in some patient very slowly and in another faster. I think it's very important to know what's happening in order to develop efficient medicine.  
In order to understand a disease and its consequences, one must first know how it develops and which changes in the body occur and what the consequences are. Since the predisposition for Huntington's disease is already present in the genome, it is necessary to find out why some people have "normal" gene sequences and some have a high or very high number of corresponding gene sequences. Since genetic research is advancing all the time, we will certainly find a way to modify the corresponding genes in the near future.  
It seems fundamental as a basis for knowledge and understanding and therefore for being able to move on to therapies and prevention with this knowledge. However when you are faced with a disease it feels less important on an individual level. I can definitely see the overall importance of this research area though.  
It is a theme that should be able to improve and deepen even more the knowledge on pathologies and which can lead to preventive and/or therapeutic solutions.  
Why is the research theme 'Developing therapies and preventive strategies' more important for you than the theme 'Disease mechanisms and models'?  
In my opinion, the priority in the field of research would be to put in place the means to slow down the progression of the disease; to maintain autonomy.  
I understand the importance (of the theme ‘Disease mechanisms and models’) as a patient I do have a lot of frustration towards that as I know we are talking here of a very, very long time (several decades). So I think it would be wise to develop preventive therapies that a patient can do and experience and perhaps to let the patients know what's happening in the long term research from time to time in some ways.  
I can't answer that for sure. Maybe I unconsciously gave this answer for selfish reasons. My husband has Huntington's disease, but we don't have children. An effective therapy would be advantageous for me, I would not lose him and I would not have to watch how he decays, physically and mentally.  
I think that both are important aspects, from the point of view of the patient or the care giver, especially where there is a genetic implication, it is very important to be able to give "hope". Perhaps prevention also makes it possible to slow down the course of the disease and to study in greater depth the dynamics of its development.  
The damage caused is usually irreversible. Anything that can be done before the symptoms appear is of the utmost importance.  
Can you imagine that clinicians think it is important to do research on 'Disease mechanisms and models'?  
I think this is useful in order to be able to recognise the disease as early as possible and thus to obtain a quick diagnosis with greater possibilities of treatment.  
While I can understand the importance of this area to clinicians, it is not as obvious to me personally what this fully involves and therefore the immediate value.  
Yes I can understand that the clinicians do that and even I would be very suspicious on the scientific value of the outcome of a research where they would not do so. I think generally that the medicine cannot come up with a cure to a disease if they don't investigate the disease mechanisms. This being said, as I think it will take many years, I do understand the frustration among patients.  
Almost all of us are waiting for results, for solutions so that patients can at least live better with their disease. All areas of research are important, let's trust the researchers, many of whom are listening to patients and their families, and that this listening should probably guide their thinking to some extent.  
What needs to be done so that clinicians and patients understand each other's needs in which research theme needs to have priority?  
I think it's important for family and doctors to meet. It would be appropriate that on the occasion of large events such as workshops and dedicated congresses, family members' associations can participate, perhaps with meetings "on the side". So that they can express their needs. Also from the point of view of methods of communication and approach to diagnosis.  
Conversation! Patients having a rationale and understanding of the gains to be had from the priority areas of clinicians. Clinicians are looking at an overall picture and long term gains, whereas they need to understand that a patient isn’t usually coming at it from a selfless perspective-they usually want what will be best for themselves within their life span.  
I would say a lot more interactions between them, a lot more information and links between the patients and the clinicians, for example through the patients associations.  
Personally, I joined an association as soon as I was diagnosed. I found there a listening ear, information, exchanges between people "concerned" to varying degrees. I also had the opportunity to exchange with research project leaders or researchers. This bilateral consideration is considerably appreciable because it allows me to become aware that these are not two distinct worlds but two intertwined worlds, one for the other, one with the other.