Background: Children and Adolescents with rare
neurogenetic disorders often have no known cure or disease modifying
treatments. Recent advancements in treatments are offering much needed hope
to these patients and families. However, these treatments are extremely
costly, have complex administration requirements and have many unknown
long-term risks and outcomes. Methods: In this
presentation, we will discuss our experiences with the implementation
process, including developing intricate care pathways, collaborating with
multiple disciplines and services, supporting and advocating for our
patients and families, and interacting with government agencies and
pharmaceutical companies. Case studies will highlight the positive impact
these treatments are making on the lives of children and adolescents with
rare neurological disorders. Results: Spinal muscular
atrophy and Neuronal Ceroid Lipofuscinosis Type 2 are both rare and
devastating neurodegenerative conditions with significant morbidity and
mortality. Health Canada and government funding agencies recently approved
Nusinersen, Onasemnogene abeparvovec for the treatment of SMA and
Cerliponase alfa for the treatment of CLN2, leading us to swiftly integrate
these treatments into our standard of care.
Conclusions: While implementing these novel
therapies into clinical practice can be both challenging and rewarding,
neuroscience nurses are positioned at the forefront to be leaders in this
process at both organizational, national, and international levels.
Prevalence of dysphagia symptoms in Cretan children and adolescents with neurological disorders
