Susanne Gerit Kircher, Medical University of Vienna, argues that Europe must renew its efforts to tackle rare diseases such as mucopolysaccharide storage disorders.
Mucopolysaccharide storage disorders are a group of rare and chronic genetic diseases which permanently and detrimentally influence the life of affected persons.
Let’s talk Mucopolysaccharide storage disorders
Accompanied by physical and mental handicaps, patients have to deal with them all their lives. Starting from early childhood on, they are pushed into the role of the ‘smaller’, the ‘less lovely’, the ‘clumsier’, those with the bad cards.
But, as often observed in reality, weaknesses can transform into strengths. One of the most important factors in their positive development is the unlimited love of their families and the acceptance of their peers. With this in mind, patients learn to trust themselves and to overcome any limitations or handicaps. They go to school, are educated, and learn professions. They go to work, dream of partnerships and children, and sometimes they can even realise those dreams. They do not really differ from all those ‘healthy ones’.
People with rare disease have to fight at different levels: to overcome their personal handicaps, to break through the barriers drawn by society and the environment, to prove that they are even better than those to whom they are compared, to make clear that they are just as valuable as others. Sometimes the parents have to fight for those who cannot do it themselves. In many cases, the affected persons fight themselves and are left alone.
Every rare disease is rare, but if one considers that more than 6,000 diseases are classified as ‘rare’, the number of affected people is 400,000 in Austria and about 30 million in Europe. People might be shocked by this incredibly high number and ask themselves: where are they? The answer is very simple: they are in the middle of us, part of our culture and society, part of our functioning system and life. They do not wear the label of a rare disease.
First and foremost, they are individuals in our midst, with the additional burden of a rare disease and with the firm wish to handle life in the best possible way. We have to thank them and their families for the tremendous efforts they make to handle their life and to be an integrated part of our society.
Rare diseases, such as mucopolysaccharide storage diseases, are chronic disorders and often involve many different organs. In childhood, special medical care and treatment needs can be met rather sufficiently by paediatricians and a multidisciplinary treatment approach.
No matter which organs are involved, the aim is to improve the physical, mental or social integrity of all patients. After completion of puberty and adolescence, the paediatrician’s responsibility ends. Patients feel compelled to consult a big group of different specialists for each organ and each problem.
This situation overburdens patients as well as physicians – patients as they still have all their physical, mental and social problems, physicians as they have never before been confronted with such a rare disorder. Medical staff haven’t been trained or prepared for all the existing rare diseases, and patients cannot recognise whether any new symptom is part of the disease or another common medical problem that could easily be solved and treated.
The special needs, the physical handicaps, the diversity of doctors and caregivers, the less encouraging success of interventions, the many unanswered questions – this all leads to rare disease patients withdrawing more and more and simply dealing with the situation as it is. The parents as advocates are no longer present, and patients themselves often do not have the enforcement power.
The idea to focus more intensely on rare diseases is noteworthy and important, as we speak about a part of our society, a not inconsiderable proportion. Handling rare diseases well is vital for the European community. 30 million affected people cannot be ignored.
The implementation of national action plans for rare diseases in European Member States is a good step. The implementation of European Reference Networks (ERNs) and associated members in order to create a network of expertise all over Europe is even better. The definition of standards for such centres to have the expertise in diagnosing and treating the special group of rare disease patients is perfect for that minority who might profit from them. And the plan to continue with the implementation for many more diseases is excellent.
But do we already have answers to such questions as: will we ever be prepared for 6,000 diseases? What can we tell the 40% who will never get the right diagnosis? What about the 90% of rare diseases for which we cannot offer any disease-specific therapy? What about the patients in EU countries who never get the best possible therapy because their health system cannot provide it?
Reflecting on these questions, we can say: yes, the problem has been identified; yes, some targeted activities have started; yes, something is going to change; but no, a solution is still very far away, and no, we will not reach our goal if we do not potentiate our efforts.
Susanne Gerit Kircher
Medical University of Vienna
Please note, this article will appear in issue 8 of Health Europa Quarterly, which is available to read now.