Mrs Michelle Muscat, President of the National Alliance for Rare Diseases Support – Malta,
Professor Alex Felice, Visiting Consultant (Thalassaemia and Molecular Genetics),
It is indeed a pleasure to welcome you all here at Sant’Anton Palace for this Colloqium, albeit in much restricted numbers to comply with Health Authority recommendations in fighting the pandemic.
I welcome the promoters of the National Alliance for Rare Disease Support, and the representatives from the Malta Biobank project from the University of Malta, for this 6th Annual Colloqium on the occasion of Rare Diseases month – which is February. This is done in conjunction with EURORDIS, which is the European Platform for patients and families with rare diseases.
I thank the promoters for asking me to say a few words of introduction to this Colloqium.
Let me start by saying that the Rare Disease Alliance, in Malta is the representative of EURORDIS, who over the years has proved to be a very
powerful representative of patients with rare diseases and has campaigned successfully for more progress on these conditions at social, legal and health levels, both in Europe as well as internationally.
Today’s Colloqium has as its title a particular aspect of the subject of rare diseases
– that of the need for better cooperation, communication, engagement and mutual trust between the patients themselves, including their families and the practitioners which include the researchers as well as the health professionals looking after the patients.
From experience, as a long-time practitioner, I always believed that the patients should be informed in language they understand what is wrong with them, and why a particular treatment is being prescribed.
That part of the consultation was not always the easiest or quietest part. And this was when one was diagnosing run of the mill, common conditions. With more sensitive conditions, especially where prognosis was guarded, the task became even more difficult.
Imagine how far more difficult it is to explain to the patient, parents or family, that the condition suspected or diagnosed is classified as a ‘rare disease’.
The information becomes more scarce, the prognosis is more guarded, and explaining how this came about, what specialised tests have to be carried out, and the admission that ‘we do not yet know all that much about it’, do not convey all
the confidence one would like to give to the patient and the family on making a diagnosis.
Practitioners have to keep in mind the patient’s anxiety (or that of his family if it is a child), and their understandable thirst to know more about the condition.
This is where we zoom in on the topic of this colloquium.
Patients and researchers have to work together to get to know more about the rare condition present, while research is encouraged to arrive at a sound diagnosis, on which eventually one bases the necessary treatment, healthcare and support that is needed.
Some of those classified as rare diseases, are still being studied. Today with the available medical technologies, and better access to human genomics, much progress has been done, especially considering that many such conditions have to do with inherited dominant or recessive chromosomes, absent enzymes and pathophysiology, generally at molecular levels.
The objective of healthcare professionals is to make the most accurate diagnosis as early as possible in life, for treatment to be instituted the earliest possible, and for other preventive measures to be taken.
It has to be pointed out that patients with such conditions find it difficult to grasp the underlying pathology, they find a very limited number of specialists who
would be conversant with their ‘rare’ condition, and worst of all most probably, find out there are few treatments available, if any, as pharmaceutical companies do not normally give sufficient attention and interest to find treatment for conditions from which only a small number of patients suffer.
This picture makes us, and the patients, realise that the more information and data that is exchanged between patients and researchers, the more there is a chance of better and quicker diagnosis.
This means that biobanks and registers are absolutely necessary to help research. In Malta, we already have a rare disease register at the Public Health Authorities, and the University of Malta is developing a high-quality biobank. This has been going on for the last twenty-five (25) years, and is in coordination with European partners engaged in appropriate research infrastructures.
I know this sounds somewhat technical, however, we should not forget, even for the slightest moment, that we are doing all this for the benefit of the patient, whose interests come first and foremost.
While cooperating with the patients and their families, we have to show utmost respect for confidentiality, to listening attentively to how they convey to us their symptoms we have to convey a sense of trust and show genuine concern, as well as injecting reasonable hope for the future.
This seminar will be discussing most of what I have just made reference to.
How can one adopt measures that will lead to widespread partnerships between health professionals, bio medical researchers and the patient’s families with rare diseases?
How are we to sensitize the public at large, to create consciousness, awareness and a commitment to help financially to see these projects materialise?
Such initiatives will prosper in full respect for good professional conduct, strict adherence to data protection and patient confidentiality, informed consent, highly professional genetic counselling, and the much-needed public private partnership.
The ultimate objective is to have the necessary knowledge and tools to make a diagnosis as early as possible, and apply much desired new treatments, to give patients with rare disease the maximum benefit possible, be it in quality of life as well as longevity.