Welcome to RARE a blog dedicated to the rare disease industry by Laura Hulley, a Senior Recruitment Consultant at SciPro.
RARE - Claudia Coscia
For this episode of RARE, we welcomed Claudia Coscia onto the blog. Claudia is the Country Manager of Italy at Kyowa Kirin.
Kyowa Kirin is a global pharmaceutical company, headquartered in Japan, which aims to contribute to health and well-being through the development and marketing of innovative medicines worldwide, pioneering the field of immunotherapy and research into new therapeutic antibodies. Kyowa Kirin is committed to improving health, alleviating suffering and prolonging life expectancy. The aim is to do everything possible to meet the unmet medical needs of patients, their families and healthcare professionals, contributing to human health and wellbeing worldwide. Kyowa Kirin Italia focuses its activities mainly on therapies to support cancer patients and rare diseases. Thanks to innovative research techniques in the field of monoclonal antibodies, specific drugs have been developed in areas where therapeutic possibilities were hitherto either absent or very limited.
In particular, Kyowa Kirin’s research recently produced two monoclonal antibodies, one indicated in certain rare forms of cutaneous lymphomas and the other in a rare form of hypophosphatemia of genetic origin.
For this episode, we are focusing on the topic of transition from paediatric to adult care.
Transition from Paediatric to Adult Care
Transition from paediatric to adult care is a crucial aspect for adolescents with rare and chronic diseases.
Rare diseases are often serious, chronic conditions that begin in childhood and are associated with potential permanent disabilities.
Fortunately, the life expectancy of patients has increased overall in recent years, thanks to advances in research, improved pathophysiological knowledge and the development of new treatments and diagnostic methods.
This means that today many children with serious rare diseases reach adulthood. Adolescence is a complex phase, and many studies document that it is precisely in adolescence that there is a high risk of children with chronic diseases skipping regular check-ups and neglecting treatment, with the risk of even serious complications. This is why Claudia believes that transition, understood as the transition of care for a paediatric patient to care for adults, is a health priority, especially in rare diseases.
The challenges in the transition of care are partly due to the disorientation of finding oneself in a 'middle ground' when it comes to healthcare.
The type of care offered in the paediatric age is profoundly different from that of the adult, since the paediatric patient requires the support of his or her family members, both at the clinical level and in decision-making, whereas the adult patient is considered to be an autonomous, independent individual capable of self-management.
Each of these steps is characterised by critical issues:
For the patient
One transitions from dependent child to independent adult and in this phase, patients undergo profound clinical but also cultural and social changes.
Patients' personal and clinical needs also change, and it becomes necessary to receive age-appropriate medical care.
There should be a direct transfer of responsibility from one professional figure to another.
Families who have long been involved in the care and have assumed the burden of decision-making and implementation of many care activities find it particularly difficult to relinquish this role.
Transition brings about a change of interlocutors, those with whom a relationship of trust had been established in the past and for a long time must be left behind, and new relationships must be rebuilt as they change.
Moreover, often these interlocutors cannot be found, since adult medicine has not acquired adequate experience in dealing with rare diseases. Not least, suitable environments must be found where patients are managed.
In rare diseases, it is even more difficult to find disease experts.
Lack of common guidelines/PDTA.
Differences in patient management.
Affective bonds of the paediatric team with the patient and lack of trust in adult internist structures especially for certain diseases whose expertise is not considered optimal. Often the transition is delayed, prolonging 'being a child' even beyond what would be logical and appropriate, with the consequent underestimation of the impact of a series of new health and other needs.
The 'profiles' of rare diseases are much more heterogeneous and dynamic than the chronicity assessed by the adult doctor, so there was a need for ad hoc training. In fact, for effective care, it is indispensable that not only the paediatrician but also the adult doctor knows the natural history of the pathology and is an expert in assessing the intrinsic peculiarity and biological complexity of the sick person. Added to this, is the necessary experience in managing the great variability of cognitive and functional phenotypes and the social context, and expertise in prioritising needs and achievable health gains.
What can be done?
The transition process must start early, around the age of 12, and be gradual, progressive and well planned, involving the educational aspect of the adolescent and the family, the organisational aspects and the therapeutic-assistance aspects. Dedicated spaces are ideally needed, called transition clinics, run jointly by the paediatrician and the adult specialist, for the purpose of sharing news and protocols. Family paediatricians and general practitioners must also be involved at territorial level.
The management of the transition from a paediatrician to a GP should not be an administrative bureaucratic event.
They believe transition clinics are important as interdepartmental centres for the clinical management of this delicate phase, to avoid heavy psychological impacts on the patient and to guarantee the best possible care throughout life.
The constant organisation of meetings and consensus by scientific societies and transversal meetings between specialists dedicated to the different ages for an up-to-date definition of common diagnostic-therapeutic paths and guidelines is essential.
The child must become a responsible member of the team and must be asked to participate in the medical examination as the first protagonist and take responsibility for treatment, both at school and at home.
Develop a transition plan.
Anticipate future needs.
Celebrate the transition with gradual appointments and other 'rites' of passage.
What does Kyowa Kirin do?
Dialogue with the Patients' Associations, who are valid interlocutors, especially in the transition from paediatric to adult age, which involves a complex series of transitions, some of which are specific to the person and their family, others to the evolution of the disease and the transformation of the patient's needs, others to the contexts and environments of care, and still others to the skills and experience of professionals, and each of these transitions is characterised by specific difficulties. Projects such as 'DRIP' are moving in this direction; the creation of PDTAs to favour a multidisciplinary approach (organisational and cultural and stemming from the need to offer the patient a complete pathway with facilitated access to multi-professional value, with a view to clinical and organisational care) and psychological support for the patient with the AISMME association.
Self-administration of medication can help some patients to become independent and also gain better control of their condition, which is why since June 2021 Kyowa Kirin has made a drug for the treatment of X-linked hypophosphatemia available in the form of self-administration. This is intended to benefit not only patients with XLH who have mobility problems, but also parents with young children with XLH, who may have little time to travel to health centres for appointments, or who may find it difficult to receive home visits from nurses to administer the injections. Many injectable treatments for chronic diseases, such as insulin for the treatment of diabetes mellitus, are successfully self-administered by patients. In the case of patients with XLH, it is the treating physician who will assess which patients will be considered suitable, ensuring that those opting for self-administration have received the necessary training and are comfortable with the procedure.
Kyowa Kirin recently took part in the organisation of a Training Course on the management of the transition phase from paediatric to adult age for the XLH patient.
The Training Course will therefore represent a fundamental meeting point for experts in the treatment and multidisciplinary management of patients with XLH in both paediatric and adult settings.
The pathway, through the comparison of the different professional figures who are involved in the management of the XLH patient, aims to optimise the patient journey to identify the criticalities that may arise during the transition phase and possible areas of improvement in the multidisciplinary management of the patient.
The project will be structured on the basis of the specific features of the pathology and of the organisational management of the various professional skills involved, making it possible to guide improvement actions consistent with the organisation of the ward and outpatient clinics on the basis of a shared diagnostic-therapeutic care pathway.
I would like to take this opportunity to once again thank Claudia for the discussion and for raising awareness of the challenges faced when transitioning from paediatric to adult care.
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Laura Hulley - email@example.com