The Invisible Years Understanding the Journey to an ASMD Diagnosis Welcome The aim of this survey is to better understand the journey to a diagnosis of Acid Sphingomyelinase Deficiency (ASMD) and why diagnosis can sometimes be delayed. By sharing your experience, you can help us understand what happened before ASMD was recognised, including the first signs and symptoms, how they were described at the time, what happened when medical help was sought, what factors may have made reaching a diagnosis more difficult or take longer, and what eventually changed that led healthcare professionals to consider ASMD. Some of the questions in this survey ask you to reflect on experiences before and around the time of the ASMD diagnosis. Your experiences may help improve awareness, inform future research, and support earlier identification of ASMD. There are no right or wrong answers. We simply want to learn from your experience. Some of the questions in this survey ask you to reflect on experiences before and around the time of your ASMD diagnosis. We understand that remembering this time may bring back difficult emotions or upsetting memories. You can stop the survey at any point without giving a reason. If completing this survey raises concerns or causes distress, we encourage you to speak with a member of your healthcare team, such as your GP, specialist nurse, or consultant. You may also wish to contact your local Niemann-Pick patient organisation for information, advice, and emotional support. Your wellbeing is important, and taking part in this survey is entirely voluntary. The survey should take approximately 15 - 20 minutes to complete. About this survey This survey is delivered through My Rare Journey®, developed by OpalMedica, a medical technology company focused on improving the earlier identification of rare diseases. The survey has been co-created with The International Niemann-Pick Disease Registry (INPDR), Niemann-Pick UK (NPUK), The International Niemann-Pick Disease Alliance (INPDA), The National Niemann-Pick Disease Foundation (NNPDF), and the wider ASMD community. This study is funded by Chiesi Global Rare Diseases, part of Chiesi, a global biopharmaceutical company. Chiesi has no interaction with patients, patient caregivers, or patient groups working on this project and has no influence over the content of the survey or study design. Aggregated anonymised study findings may be shared with Chiesi. No personally identifiable information will be shared with Chiesi. OpalMedica is the sponsor of the study.The Invisible Years Understanding the Journey to an ASMD Diagnosis Welcome The aim of this survey is to better understand the journey to a diagnosis of Acid Sphingomyelinase Deficiency (ASMD) and why diagnosis can sometimes be delayed. By sharing your experience, you can help us understand what happened before ASMD was recognised, including the first signs and symptoms, how they were described at the time, what happened when medical help was sought, what factors may have made reaching a diagnosis more difficult or take longer, and what eventually changed that led healthcare professionals to consider ASMD. Some of the questions in this survey ask you to reflect on experiences before and around the time of the ASMD diagnosis. Your experiences may help improve awareness, inform future research, and support earlier identification of ASMD. There are no right or wrong answers. We simply want to learn from your experience. Some of the questions in this survey ask you to reflect on experiences before and around the time of your ASMD diagnosis. We understand that remembering this time may bring back difficult emotions or upsetting memories. You can stop the survey at any point without giving a reason. If completing this survey raises concerns or causes distress, we encourage you to speak with a member of your healthcare team, such as your GP, specialist nurse, or consultant. You may also wish to contact your local Niemann-Pick patient organisation for information, advice, and emotional support. Your wellbeing is important, and taking part in this survey is entirely voluntary. The survey should take approximately 15 - 20 minutes to complete. About this survey This survey is delivered through My Rare Journey®, developed by OpalMedica, a medical technology company focused on improving the earlier identification of rare diseases. The survey has been co-created with The International Niemann-Pick Disease Registry (INPDR), Niemann-Pick UK (NPUK), The International Niemann-Pick Disease Alliance (INPDA), The National Niemann-Pick Disease Foundation (NNPDF), and the wider ASMD community. This study is funded by Chiesi Global Rare Diseases, part of Chiesi, a global biopharmaceutical company. Chiesi has no interaction with patients, patient caregivers, or patient groups working on this project and has no influence over the content of the survey or study design. Aggregated anonymised study findings may be shared with Chiesi. No personally identifiable information will be shared with Chiesi. OpalMedica is the sponsor of the study.