Why are they called rare diseases?
There is a great number of diseases that are called “rare” because each one affects few people among the population, they hace low prevalence, this makes them to be unknown (rare), even amnog medicine profesionlas . so there is a lack of medical specialization.
Most of the “rare” diseases are have a genetic origin, but there are also unfrequent cancers, diseases of the inmune system, inbornmalformations (produced during the development of the fetus), some infexious disesases, toxic, etc. The beginning of most of them are in the first two years of life, and if they are not avoided, they are very disabling. Among this great group mof diseases, there are various dozens of metabolic diseases that with the technology that we have today. Through a screening of the the latter on newborns, we can diagnose it during the first days of life of of the child, improving his life quality and expectative, avoiding big consequences.
The fact that each one of them affects few people has conditioned negatively the investment in research for the development of a new and better diagnosis testing and treatment.
According to the Commission of the European communities in its communication to the Parliament, the Council, the Economic Committee and the Committee of the regions of the European Union consider a disease as “rare” when it affects less than 5 persons out of 10,000 from the population of the countries that make up the Union.
Currently there are described more than 2000 rare diseases, which as a whole can be up to 6% of normal patients attending who attend medical consultations.
The lack of specific health policies for this broad group of diseases and the lack of expeciallised knowledge generates diagnostic delays and difficulties for the correct care of these patients.
Our experience as parents of children affected by these diseases is that before being able to diagnose the disease our children had, in most cases, we had to visit several physicians, our children had to be admitted in hospitals on various ocassions, some of them seriously ill, until wefound someone interested in these “rare” diseases that could tell us what was happening to our son.
During this “pilgrimage” trhough diagnosis and correct treatment, our children have suffered erroneous diagnoses and treatments, even harmful, and the time lost fighting their illness has generated them psychological, neurological, intellectual and physical impairments.
Us, the parents, have suffered a loss of confidence in the health system, since we believe that misdiagnosis or lack of diagnosis, and therefore a suitable treatment, are the main obstacles of our children to have a better life quality.
For all these reasons our demands to out countrie’s Health System can be summarized as follows:
- Support for the training of groups of physicians “specialized” in these “rare” diseases.
- Support for the establishment of clinical units specialized in the diagnosis, treatment and monitor of these diseases.
- Support of groups investigating in order to improve the diagnostic of the same, as well as the creation and/or development of pre and neonatal screening laboratories and diagnosis for such diseases.
- Support to the pharmaceutical industry investigating new and better treatments for these diseases.
- Ampliation of prenatal and neonatal screening programmes in order to minimize the number of children affected by these diseases and/or not diagnosed as quickly as possible according to new medical knowledge and new diagnostic tests.
What do parents children affected by these “rare” diseases of metabolic origin need from the Health System?
Quality of care for our children:
The possibility diagnosing before or immediately after birth, based on the knowledge and the technology available currently, all those metabolic diseases through population-based screening programmes.
That primary care physicians, pediatricians and emergency services had in mind these diseases.
That in case of suspicion of one of these diseases they would have information at hand to check.
That under a founded suspecion of a child having a “metabolic rare” disease, the patient could be refered urgently, if necessary, to any clinical unit where the child can be cared for, diagnosed and treated correctly.
During diagnosis and treatment of the disease:
That the possibility of a “special metabolic diseases” treatment at the emergency services of important hospitals, at referencial clinical units, and at the hospital closest to where the patient lives, once he is diagnosed.
That parents are reported properly, in a clear and simple manner
That we should be helped accepting the disease and should be put in contact with the Parents Association of this particular disease, in case of existing.
A record in the computer system of the hospital and, if possible, in other hospitals should exist metioning the “rare” disease that our child has.
All treatment possibilities should be attended in the same centre, since many are multisystemic.
During disease monitor:
As most of these diseases are genetic in origin, and currently there are no cure treatments, patients will need to monitored throughout their lifes
It is important an interrelationship between the specialized clinical units and clinical services that are close to where the patient lives so that he does not need to travel constantly. Let knowledge travel, not the patient
Promote the creation of action protocols to respond to clinical crises of these patients and mahe them easy to access to all health professionals
It is important that the information about the disease the child has is available to any doctor visiting him attending any eventuality. In this sense, we know of the existence in some autonomous communities, as in the Basque Country, of the so-called “computer alerts” that warns the physician about any community centre that faces “special” patient with a genetic metabolic disease. It is also possible to provide the patient with some computer support, certified by the clinical unit of reference, stating the patient’s medical history. Surely enough, there has to be more possibilities…
In conclusion, what parents of affected children of rare metabolic diseases expect of our Health System is the possibility of diagnosing and treating our children in an effective manner, avoiding “ridiculous hospital pilgrimages “, avoiding unrecoverable consequences in our children, avoiding suffering to our children and all our families. We believe that it is possible. We believe that it is possible, today, for many of these diseases. We hope and pray that it is possible for many others in the near future.
National Responsible of A.Ds.
Eusebio Temprano Chinchurreta.