Managing symptoms for the best
As of today, the only treatments that exist for SANFILIPPO syndrome are symptomatic treatments, the effectiveness of which varies from patient to patient. In France, multidisciplinary consultations are set up in hospitals so as to ensure the best possible care for children and to improve their quality of life. Parallel to professional healthcare, parents must learn to manage the symptoms as best they can on a daily basis.
The four subtypes of SANFILIPPO syndrome present a wide variability in phenotypes (the observable manifestations of a disease). Each child develops the disease in a specific way. However some symptoms of the disease are characteristic, and it is important to be prepared for them in order to better detect or alleviate them. Here again, the shared experiences of families can give indications that are complementary to those given by health care professionals.
In France, one of the strong points of the first National Plan for Rare Diseases, adopted in 2005, was the establishment of “reference centers for rare diseases” in hospitals. As defined by the authorities, these reference centers are “pluridisciplinary hospital skills bases, revolving around a highly specialized medical team.” Their purpose is to enable patients and families to find global care, as well as to guide and coordinate healthcare professionals who are not experts on the disease. Since 2008, this provision has been complemented by “skills centers” that are meant to be a relay for the reference centers, closer to patients’ homes.
In France, there are “reference centers” for SANFILIPPO syndrome, classified by the Ministry of Health as part of the group of Hereditary Metabolism Diseases (group VIII), and “skills centers” that deal with lysosomal diseases. See the Orphanet site
Children who suffer from SANFILIPPO syndrome develop multiple disorders and impairments. The goal of multidisciplinary consultations is to allow families to meet with various specialists in order to deal with all aspects of the disease and care of different symptoms, in a single day at a reference center. Consultations generally include a specialist in metabolism, a physical therapist, an ORL, an orthopedist, a psychologist, a specialist in psychomotricity. This system allows the disease to be dealt with as a whole, with regular assessments and guidelines for routine medical care and follow-up.
The frequency of these multidisciplinary consultations depends on the evolution of the disease, but can be annual or quarterly. The system enables families to avoid multiple trips to the hospital.
But the very positive and beneficial effects do not completely make up for the difficulties described by the parents. Indeed, it is very important to talk about those difficulties.
Relationships between parents and doctors are sometimes very tense, even conflictual. What is the explanation? We can try to understand, but only human and social science studies based on solid analysis can really answer the question.
We, as parents, observe the facts:
· The parent-doctor relationship is off to a bad start when terrible news is announced, that of the disease. Even when the doctor breaks the news with every possible attention and thoughtfulness, the tragedy is the same.
· Doctors cannot save our children from inevitable death. On the one hand, the situation is very difficult for the doctors whose vocation is to cure people; and on the other hand, parents can feel resentment towards the doctors, in spite of themselves.
· Multidisciplinary consultations are particularly complicated to organize for the hospitals, which leads to stress, long waits, situations in which parents do not feel they are taken into consideration, or respected.
· Parents become experts on their child's disease: not only are they able to perceive the slightest sign of evolution in the disease, but they also ensure their children’s daily care: healthcare professionals are not accustomed to accepting that kind of expertise and using it to better evaluate the disease and adapt treatments.
Given that fact, the emotion, the pain, the parents’ difficulties, combined with those of the healthcare professionals to optimize personalized care, makes certain situations very tense.
Dialogue, explanations, mutual understanding of difficulties must be at the heart of relationships between healthcare professionals and parents. Social science studies are needed to improve knowledge of the experience of children and families, in order to facilitate comprehension of the difficulties. Alliance SANFILIPPO not only wants to encourage such studies, but also to participate in them.