Article published in JOURNAL OF INHERITED METABOLIC DISEASES on August 5, 2006
Hereditary metabolic diseases should be considered as a group the requires specialized care due to the wide range of knowledge that requires their diagnosis and treatment. United Kingdom expressed the concern among professionals that current services would have difficulty to meet the resulting needs of new techniques for diagnosis and screening, new treatments and greater patient survival.
Inherited metabolic disorders are a heterogeneous group of health States. Although each of them is rare, and they are clinically different, they need access to a wide range of biochemical and molecular tests for diagnosis and subsequent monitoring, patients need a multidisciplinary team integrating the knowledge of the lab scientist, clinic physician, nurses, specialists and dieticians in order to diagnose the clinical status and manage the diverse and complex dietary therapies, pharmacological and other over long periods of time. These diseases are multisyistemic disorders and therefore require the coordination of a long series of other clinical specialties, including genetic support for the management of any family involvement in the hereditary disease. On the other hand, the own rarity of the disease means that clinicians need a high level of specialization in order to develop the needed experience in orer to have national and international support.
Increasingly we recognize more the importance of specialized care for people with inborn metabolic diseases with new technologies that provide the possibility of performing screening, improving the capacity of diagnosis and enabling effective treatments. Patients nowadays survive until adult age with diseases that had previously been lethal at earlier ages.
In the United Kingdom services never have been planned strategically according to the needs of the population’s health and in recent years, professionals have raised concern for the fact that clinical and laboratory staffs are insufficient and may not respond to new service demands, thus increasing the distance between the health needs and what is expected. The results of an international survey conducted in 2002 also showed the shortcomings in professional facilities, personnel, expertise and systems to ensure the monitoring of patients.
The multidisciplinary team
A specialist service of metabolic diseases must be able to provide advice and expert treatment for routinary and urgent cases in order to take care of babies, children and adults with a metabolic crisis. Therefore, the computer must have enough components to fill 24 hours a day, including weekends, as well as support of various disciplines including at least less medical staff, skilled nursing, laboratory and a specialist dietitian.
According to the documentation of services, 831 adult patients were being cared for within the paediatric frame. The lack of national and local records makes the documentation of the number of patients lost while during monitoring, but the services describe patients who “appear” or are refered by general hospitals when showing up a crises during pregnancy (often when it is too late to implement the necessary dietary restrictions), on the grounds of mental health problems or simply when practitioners lose interest in them.
We have estimated that 18.930 patients (approximately two thirds of whom are children) need specialists services in metabolic diseases in the United Kingdom. The discrepancy between the estimate and the number of patients known by the specialist services suggests that more than 8800 patients are not in contact with these services, almost 50% .
Services with small staffs are very vulnerable to changes in personnel and retirements and are preocupying the aspects related to the planning of new incorporations and absences due to holiday or training, there are problems providing emergency coverage and many physicians and other specialists must be unofficially available for queries outside of their working hours – with the consequent problems to provide coverage during periods of holidays or other absences. The services are aware of the need to develop the provision of support to patients and their families through home visits, training so they can learn to care for themselves, training of local staff to provide them assistance where the patient lives, and development of more training and information for patients and their families.
We are defending s advocating the introduction of other screening programmes and this would imply a greater demand for current services. The development of new treatments resulted in better conditions and greater expectations of life, but at the same time it requires a continuos monitoring from adult and paediatric services. Finally, the work of the groups of collaborators and the highest level of awareness of parents, which look for information and actively work to find and to demand better treatment, will lead to a situation which they will not accept assistance from clinicians without specialized knowledge.