PATIENTS’ IMPRESSIONS OF ENMC WORKSHOPS
“Having the patient voice heard during the workshop shows the commitment of physicians treating LAMA2 to developing relevant, practical, and understandable clinical guidelines.”
Justin Moy, a 25-year-old patient with LAMA2 congenital muscular dystrophy, contributed to discussions at the 283rd ENMC Workshop.
“It was incredibly rewarding to learn from doctors and other healthcare professionals, but equally rewarding as a patient to be heard and to have my voice included in the discussions.”
Lasse Blichfeldt Haastrup, a Becker muscular dystrophy patient who participated in the 290th ENMC Workshop, “Developing Standards of Care for Patients with Becker Muscular Dystrophy (BMD).”
“The preparatory work and prior studies conducted by the experts were discussed and exchanged in detail. Their findings were brought together to provide neurologists and hematologists with valuable insights that can further disseminate within their respective fields.”
Myriam Tierens, a SLONM patient, and her partner who participated in the 294th ENMC Workshop, “Diagnosis and management of paraproteinemic myopathies focusing on sporadic late onset nemaline myopathy (SLONM) and light chain (AL) amyloid myopathy.”
“I was there to share my experience, my long battle against SLOMN, highlighting the challenges patients face in obtaining an accurate diagnosis and how timely recognition of this rare disease can profoundly influence a patient’s outcome, hoping that my pathway could contribute to raising awareness of this disease and saving other lives. I admired great dedication and an amazing collaboration among the experts from around the world, all working to improve the early diagnosis and give hope to patients and their families.”
Sandrine Gosteli, a SLONM patient, and her partner who participated in the 294th ENMC Workshop, “Diagnosis and management of paraproteinemic myopathies focusing on sporadic late onset nemaline myopathy (SLONM) and light chain (AL) amyloid myopathy.”
