It is particularly important that pediatric services in rare disease referral centers have effective programs for transition to adult care, adapted to the diseases and patients for whom they provide care. As has already been found in other countries, the tasks and missions involved in transition are numerous and can sometimes be difficult to carry out. In order to achieve optimal results for patients with lysosomal storage diseases, we reviewed current practices in pediatric units where these patients are followed, identifying the actions that seemed most important from the point of view of the patients (or their parents) and the pediatricians responsible for their care.
Our review indicates that most patients had well been informed that, at some point, there would be a transfer from pediatric units to adult medical care. In almost half of the cases under consideration, some practices which facilitate transition were already in place, such as the designation of a transition coordinator and the provision of information about the timing of the transfer. Other practices were encountered less frequently, such as the provision of information about the composition of the adult medical team, organizing an appointment with the pediatrician alone, without the parents’ presence, and forwarding medical records from the pediatric to the adult medical unit. Other initiatives, such as having patients visit the adult unit, producing explanatory documents about the transition and organizing joint consultations with the pediatric and adult teams, are not widespread.
Some centers do implement the practices that the majority of patients consider to be important/very important. In view of the expectations and preferences expressed by the patients in this survey, their systematic use by healthcare teams can be recommended.
Patients (or their parents) consistently prioritize the provision of explanatory documents about the transition. These documents must be readily available and comprehensible for both patients and caregivers.
Patients and physicians agree on the importance of forwarding the medical records from the pediatric department to the relevant adult unit and of the organization of joint consultations with both pediatric and physicians for adults, even if organizing actual appointments can be challenging (different geographic areas, different availability, uncertainties regarding reimbursement). The French hereditary metabolic disease network (G2M) is currently developing a transition document equivalent to the transition health passport developed by certain participating teams. This kind of document including information from the pediatric record, treatments, risk situations, the most recent pediatric examinations, social, educational and professional considerations, and follow-up elements, could be in accordance with the patients expectation.
Although rarely mentioned by physicians, patients emphasized the importance of a coordinator responsible for preparing the necessary documents, organizing the care process and setting up of meetings between patients (with or without the parents) and both the pediatric and the adult care teams. The coordinator can also help inform and train the future paramedical team.
For more than half of the patients, information on the timing of the transfer was provided belatedly, after the age of 18 years. It is important to anticipate the TCA, to mention it early and often, and to explain that it will only take place once the disease has been stabilized and never during an acute medical event. Transition is the gradual process that leads to the actual transfer of care. A date cannot always be set with precision and may be subject to change. This must be reiterated throughout the transition process.
Patients and, to a lesser extent, physicians in the pediatric centers would like to be familiar with the composition not only of the adult medical team but also the paramedical team and the adult department units. At the same time, the physicians who provide care to these patients in pediatric settings often have difficulty identifying referral physicians in the future adult medical department. All these unknowns (date, teams, locations) often generate stress and anxiety for patients and their families but also for pediatric physicians in charge of the transition.
Social networking and exchanges of general information about the TCA do not appear to be important for most patients/parents (23.3%), who seem to prefer personal discussions with a view to obtaining practical information specific to their situation.
Responses concerning consultations with or without parents are relatively difficult to interpret because, most often, the questionnaires were completed by the parents. Their responses may reflect a fear that if their child is alone with the physician, they will not share enough information about their medical history. Physicians from adult departments are less accustomed to the presence of parents, who can often provide significant help through their knowledge and experience of the rare disease and the patient’s experience. On the other hand, consultation time alone with the patient is essential when more personal subjects such as sexuality or possible addictions are addressed. The best approach is undoubtedly case-by-case.
The principle concerns expressed by pediatric physicians relate to i) the experience, competence, and organization of care on the part of the adult medical and paramedical team, ii) the possibility of multidisciplinary consultations, iii) the availability of drugs and equipment adapted to patients’ disabilities.
As noted, improved understanding and management of lysosomal storage diseases in childhood have led to an increase in the number of patients entering adulthood. At the same time, few adult care physicians have been trained in the management of lysosomal storage diseases. To avoid disruption of care it is therefore essential to train coming generations of physicians and paramedical staff from the adult unit in the care and management of these diseases.
By definition, rare diseases do not allow for the recruitment of large research samples, and the number of participating patients is a limiting factor with respect to the statistical power of possible post-hoc statistical analyses. In France, lysosomal storage disease management generally takes place in referral centers. Nine pediatric centers did not include patients for various reasons (lack of time, refusal, no target population). Some patients, especially the least symptomatic, are followed in hospitals scattered throughout the country. Therefore, no pediatric centers close to patients’ homes participated in the study. It is possible that these centers did not have time to identify and include patients, or that they felt less comfortable with academic studies on medico-social themes.
In the complementary exploratory analyses, the comparison of patients over 21 years of age with those under 21 years of age did not reveal any factors explaining why these patients remain in pediatric care. Given the population size, these analyses suffer from a lack of statistical power.
On the other hand, the strength of the study lies in the long-standing professional relationships between VML and the Lysosomal Storage Disease Reference Center. These relationships made possible a dialogue through which common TCA problems could be identified.
In this study, the population size is sufficient to describe accurately the current status of TCA in the participating centers. The patient questionnaire return rate of 78% is satisfactory and similar to a telephone call-back study . The closed questions were developed and tested in a pilot phase, using qualitative questionnaires and interviews with 10 patients or parents who had undergone the transition. Moreover, the existence of comment fields allowed for the provision of very informative additional information, which most often supplemented the answers to closed questions. By citing existing actions and their impact, this study helped TCA stakeholders define their needs and priorities. This review of TCA practices underscores the need expressed in the 3rd Rare Diseases Plan : priorities identified should be integrated into and funded under therapeutic education programs and projects for organizing the improvement of care systems in France.