Children with RD have difficulties in the school environment and educational needs of varying type and degree. Knowing them, understanding them and attending to them appropriately helps to reduce school failure and dropout, and ensures the maximum development of these pupils' abilities.
Patients with rare or minority diseases constitute a population at risk for COVID-19. This implies that they must strictly follow the measures recommended by the health authorities to prevent infection, and at the same time there must be a very careful follow-up with specific protocols by the healthcare professionals who care for them, including the measures to be taken in each case whether they are infected by COVID-19 or by their underlying pathology.
The medical care of people affected by rare diseases (RD) represents a significant burden and an additional challenge for health systems, compared to some common diseases. The specific characteristics of RD, such as the low number of patients, their diagnostic complexity, high morbimortality and lack of specialised knowledge, among many others, together with the methodological difficulties derived from them, make these conditions a distinct group of scientific interest and high impact. The more traditional epidemiological research aimed at identifying and distributing the determinants of RD continues to be a pending issue, which limits scientific knowledge and, above all, the planning of resources and their cost, making this group of diseases a public health problem.
"The advancement of medical knowledge and the availability of new diagnostic and treatment options have brought enormous progress for many childhood diseases.
have brought enormous progress for many childhood diseases. This has meant that infant mortality has fallen dramatically over the last century. However, it has also meant that children with diseases that were previously considered lethal are now chronically ill, creating new clinical scenarios for patients, their families and professionals".
"Physiotherapy provides multiple benefits for the health of people with RD, such as helping to combat the symptoms of different pathologies, preventing future
combat the symptoms of different pathologies, prevent future discomfort, slow down the effects of degenerative processes, strengthen the body, improve or optimise functionality, reduce pain and increase well-being and quality of life".
"School nurses (SN) form part of the professional profiles that make up the inclusive education team. The Autonomous Community of Madrid has had school nurses in public special education centres for more than 3 decades and, since 2001, also in ordinary public schools due to the integration of pupils with special educational needs (ACNEE), in accordance with Law 13/1982 of 7 April on the Social Integration of the Disabled. Since 2009, associations of parents of pupils with chronic illnesses have been calling for the presence of the EE, so that every year this professional profile grows in the educational field. The full educational inclusion of all pupils, with or without pathologies, can be achieved with human and professional resources, as stated in state education laws. Equality in the educational process is a right of all children that is not always fulfilled".
"Rare diseases are poorly understood by a large part of the healthcare workforce, which greatly delays their diagnosis and leads to inequities in their management. For these reasons, European, Spanish and regional health policies are directing their efforts to improve the care of these pathologies through the creation of centres of reference".
Rare diseases have a low prevalence and a high level of clinical complexity, which makes their diagnosis very difficult. It is therefore not surprising that a high percentage of such cases have to be referred to specialised clinical centres and, ultimately, to non-diagnostic case programmes. SpainUDP is one such programme, created by the Institute for Research on Rare Diseases (Instituto de Salud Carlos III) in an attempt to respond to the large number of consultations received at this centre on undiagnosed cases. SpainUDP offers a multidisciplinary approach to patients who have been seeking a diagnosis for their disease for a long time without getting a clear answer. The procedure used at SpainUDP to try to obtain a diagnosis for these patients is based on the exhaustive and individualised study of each case, the use of the latest technological advances in the field of genomics and the establishment of international information exchange systems.
Genetic counselling is a key medical process, which precedes, follows and is closely related to genetic diagnosis and research. It consists in obtaining, interpreting and providing genetic, medical and reproductive information to patients and families related to rare diseases. It complements, in a necessary and mandatory way, the availability of biotechnological genetic resources. It should be carried out in a clinical setting, through genetic services and with the support of multidisciplinary health teams that can facilitate adequate and equitable access to patients, as well as their subsequent follow-up.
Rare diseases (RD) constitute a health problem in modern societies, where chronic pathologies condition a large part of healthcare activity. On their own they are rare, but together they make up a wide range of disease patterns. The primary care paediatrician may be faced with a child or adolescent suffering from a RD, of which he/she will probably have little experience. The aspects to be considered in the management of these diseases are the following: a) guide the diagnostic process to establish it as early as possible; b) participate in the primary care team to improve diagnostic capacity, provide follow-up and manage the patient's therapeutic plan, as well as the RD registry of the health area; c) maintain a close relationship with the reference unit of the university hospital, and d) be aware of the genetic tests performed and the genetic diagnosis, inheritance and risk of familial recurrence.