If the management of spinal muscular atrophy (Sma) is sometimes complex in itself, the issue becomes more complicated in emergency situations that require immediate access to the emergency department. Timely recognition of risk signals then becomes essential. In fact, Sma is a rare genetic pathology that mainly affects children from birth or in the developmental phase, causing them to lose motor skills over time. That’s why operators, if properly trained, can intervene and make the difference between life and death. The alliance of the multidisciplinary skills of Sma Families, NeMO Clinical Centers, the Italian Society of Emergency Medicine (Simeu) and the Italian Society of Pediatric Emergency Medicine (Simeup) was born from this need, with the non-conditioning support of Roche, which has led to the drafting of the first handbook for managing muscle atrophy in an emergency.
In Italy – recalls a note – about 40-50 children are born every year with this pathology which makes daily gestures such as sitting, standing and, in the most serious cases, swallowing and breathing progressively difficult. Now, for the first time in Italy, the Emergency Departments will be able to refer to shared recommendations, precisely to create awareness of the clinical needs of those living with the pathology and to intervene with increasingly correct and timely assistance. “Recognizing that a person with spinal muscular atrophy needs specific and sometimes different answers from other patients is a long-awaited goal for us,” says Anita Pallara, president of the Sma Families patient association.
“It is the first time this has happened in Italy and for a neuromuscular disease. It is a huge victory for our community – he continues – and it is only the first step of a precious journey begun with Simeu, Simeup and the NeMO Centres. It will guarantee more serene access and safe in the emergency departments and will be able to have a concrete effect on the management of emergencies”.
“The clinical history of Sma is changing, thanks to the results of advanced and exciting research,” says Fabio De Iaco, national president of Simeu. “Emergency Medicine must play its part: adapting to new developments, equipping itself to be able to respond in the best possible way, in its area of expertise, to hitherto unheard-of needs. The real challenge, as always, lies in the widespread dissemination of good practices: today we are taking up that challenge and starting a journey. The alliance with patient associations – he concludes – is crucial and we will strongly support it also for the future”.
“We are working – says Stefania Zampogna, president of Simeup – to organize an efficient training system, which can improve the assistance of patients with pediatric Sma for conditions that require urgent evaluation and treatment. With a view to effective programming of interventions, the training activities planned should also be directed towards diagnostic-therapeutic and assistance paths aimed at a process of integration between territorial and hospital care, to guarantee maximum safety for patients with Sma who access the Emergency Department”.
These are the areas of attention identified by the experts: respiratory distress and management of secretions in the airways; trauma and fracture management; dehydration. For all the same dual objective of wanting to improve the experience in the Emergency Room and make operators aware of the clinical-assistance needs.
“With these recommendations we are giving concrete answers to the changes that Sma has been experiencing in recent years – declares Valeria Sansone, clinical-scientific director of the NeMO Clinical Center in Milan and full professor of Neurology at the University of Milan – starting from the of care. Sharing with Emergency Department doctors the possibility of optimizing the management of emergencies and urgencies means being increasingly effective in identifying the potential clinical risk factors for each. This will make it possible to provide timely interventions and avoid the progression of complications to which patients are exposed”.
“Thanks to the advent of new medical and pharmacological treatments, what today’s children are experiencing is a new phase of the disease”, comments Marika Pane, clinical director of the NeMO Rome clinical center, pediatric area and associate professor of Child Neuropsychiatry at the Catholic University of the Sacred Heart of Rome. “For this reason it is even more necessary to share emergency management procedures and to be increasingly effective in safeguarding their functional capacities, preventing complications. Not only that, today more than ever it is even more important to pay attention to the presence of the parent who, in these cases, he is also an expert caregiver, able to transfer the correct information to the professionals of the Emergency Department”.
The recommendations are already available and can be downloaded from the Simeu (https://www.simeu.it/w/) and Simeup (https://simeup.it/) portals and will be available to emergency room doctors and local offices.