Helping to improve understanding and earlier diagnosis through lived experience
Families affected by Niemann-Pick often experience a long and complex journey before receiving a diagnosis. Understanding these rea-life experiences is key to improving awareness and supporting earlier diagnosis in the future.
My Rare Journey is a platform created by OpalMedica to collect diagnostic stories from people living with a rare disease. It provides a safe and secure space for patients, families and carers to share their experiences of the diagnostic process.
By sharing their story, participants can help highlight common symptoms, challanges and delays that occur before diagnosis. These insights contribuite to research aimed at improving recognition of rare diseases and supporting earlier detection in clinical practice.
Members of the Niemann‑Pick community are invited to take part and share their experiences to help shape better understanding and improve diagnosis for future generations.
Who Can Take Part?
Participants must be aged 18 or over. Parents or carers are very welcome to complete the journey on behalf of a child or young person. All responses are anonymised and handled in line with data protection requirements.
Take part:
If you or someone in your family has received a diagnosis of Niemann‑Pick and would be willing to share your diagnostic journey, you can take part here:
Every shared story helps strengthen understanding of the diagnostic journey and supports efforts to improve the future for people living with rare diseases.