This month we have the pleasure to host an interesting interview, realized in collaboration with Laura Mazzanti, of the Department of Medical and Surgical Sciences of the University of Bologna. With Professor Mazzanti, we discussed childhood, health and, above all, the problem of transitional care.
MGM: Transitional care provides continuity of care from the childhood world, to adolescence to adulthood: in some situations, as we are talking about aas with healthy child who passes from the paediatrician – so when there is no need for specialist skills – to the general practitioner, is the passage could be considered easier . But in other cases, as in yours, Professor, caring for children with rare diseases in endocrinology is much more complex to achieve…
Yes, it is. For us the situation is very complex, because rare diseases are complex. As far as rare disease, we usually follow young children, from the moment of birth until they are even 20 and 22 years old in cases of particular diseases where there is no expert center, such as Williams syndrome, or we could follow people even aged 30-35 years… For some particular conditions we put in place a real personalized medicine. For children transition to the adult physician, the greatest difficulty is to deal with chronic diseases especially in terms of: the general clinical management, continuous clinical controls, particularly where there are cognitive deficits due to children’s pathology or behavioral disorders for which finding a figure in the adult world implementing the necessary measures for their special treatments were difficult. There is actually a lack of resources, structures and dedicated staff.
MGM: Are there any guidelines in Italy that explain the need to apply transitional care?
Of course, there are guidelines, then every hospital has its own protocols. The most active bodies are scientific societies, as those of pediatric endocrinology, which often address this issue specifically for different conditions, especially those of endocrinological interest, such as: growth hormone deficiency, Turner syndrome… or rare diseases as Williams syndrome… An important role in these decisions is also represented to patients’ associations. For some conditions in the endocrinological field it is easier to have a connection between the paediatric specialist and the adult one, this happens for example with patients with Turner’s or Klinefelter’s syndrome. However, much remains to be done to ensure effective transitional care. We should be much stricter in ensuring the centres compliance to guidelines, we should check more. Moreover, difficulties that can be found often depend on the location of the centers: for example, the center where the patient was being treated as a child could be far from the center where he will be followed as an adult… The pediatric center must accompany families to the transition very early, already in adolescence, in order to achieve a full sharing of the pathway of care with their families. The pathway of transition implemented in our structure starts with drafting a report with the entire clinical anamnesis of the patient, followed by several meetings between paediatric center teams and adult ones. The different steps can be more or less quick depending on the patient’s compliance or on how much their families have received about the pathology, the patient’s condition and the pathway of treatment . The most important task at this stage is generally performed by the paediatric centre.
MGM: By whom is the burden of lack of transitional care brought? Is it by you, operators? Or by families? What about older children who are still in paediatric environments?
A bit by everyone, actually it is a pathway that should be more structured; the guidelines are there, but they should be more effectively applied by all the centres. Unfortunately, there is often a lack of resources to create a truly comprehensive multidisciplinary team. We need to broaden competences, to add doctors with a specialization in adult care also to the paediatric team. The same could be also applied for the patient in the pediatric waiting rooms with children, also once grown up. In addition, the adolescent patient must face the transition from a paediatric centre that provides greater care, with a climate more inclined to take care, to an adult centre where it is necessary to increase the patient’s awareness and autonomy in the management of their health condition. In some cases, this awareness can be prevented, for example for patients with Williams syndrome where patients have a cognitive impairment and a discreet mental retardation: sometimes, it could be difficult to find an adult center that can deal with this aspect in conjunction.
MGM: Perhaps there is an advantage to not having Transactional Care for Rare Diseases – although we shouldn’t say it, could be true saying: “Patients and their families have you, as their sole point of reference for life. A sort of loyalty pact…”. How do you consider this idea? Comes to my mind the English health service where there is no paediatrician of your choice but children from an early age have their own family doctor and in case of need then intervene the various specialists …
Detachment is sometimes difficult, both for the family and for the doctor who follows. Sometimes it happens that we are the guarantors of the patient all their life. The doctor who has always followed the patient can remain a point of reference, but this attitude should not be taken to extremes. The maturity of the person would also be affected from it. In an adult’s clinic, depending on the extent of mental retardation, the individual has to take responsibility for their condition (although in many cases the disability is mainly physical). Controls by physicians should be also decreasing over time: for example, patients with growth hormone deficiency usually pass from half-yearly visits, then we move to annual or more dilated visits over time. It is therefore necessary to bring the subject to a greater maturity. There are also questionnaires that are administered to the patient, in order to evaluate their degree of maturity and thus better plan the transition.
MGM: Could we talk about families and children with rare diseases growing up and becoming adults? What are the challenges for them?
The challenges are many. In the field of paediatric endocrinology, we are treating patients who gradually become adults, who have to face increasingly difficult comparisons with their peers without this kind of disability. It is very important to have support groups consisting of families, specialists and, of course, a psychologist. In our context, we have this group, especially for who with some conditions such as Turner syndrome, which has a certain complexity in management. It meets once a month and is useful for both adult patients and their parents. Affected girls particularly find it important, as a way to share doubts and difficulties due to their condition, both with each other and with the psychologist. All centres should have a dedicated psychologist.
MGM: How do the Directorates-General and Health, and health policy decision-makers address the issues of rare diseases and transitional care?
It depends on the region. For Emilia Romagna there is attention to this issue, resources will also be provided for this purpose. However, the departure comes mainly from professionals and families. They are helping us in this process and in the constitution of a real transitional care in endocrinology; recently a protocol has been developed, a so-called PDTA to structure the different steps of the transition process, which has also been recognized by our management and which, consequently, we hope will soon be implemented.
MGM: And what are we, as a society, called to do?
We need to raise awareness among people with a chronic illness. It is precisely the recognition that is required, so the person must take care of himself for the rest of their life, i.e. they must organise routes and give access to care. I believe that society, the National Health Service and associations must work hard on this issues, taking preventive measures and becoming guarantors of their health and quality of life.
MGM: Medical Humanities and Narrative Medicine: I’m thinking about films about rare diseases such as Lorenzo’s Oil on Adrenoleukodystrophy, “Extraordinary Measures about Pump Disease”, and the festival of videos about rare diseases “A Rare Look”… I’m thinking about narratives of people who have rare diseases, of those who live with them, of your personal narratives… What do you think about them? Do they help to raise awareness and inform not only the medical profession but also society at large?
I think they atre very important to train, not only the medical class, but also the entire society. People perceives what having a rare disease means. He recently made a film with Owen Wilson, in which a child with severe facial deformation had to go to school with a space helmet. It really serves to raise awareness. On the other hand, they also show us how families need enormous willpower. The worst situations for us are when parents do not accept the diversity of their child.
(Photo: La Repubblica.it)
