Those of us affected by pseudomyxoma peritonei and appendix cancer are amongst the millions of people affected by rare diseases around the world. As a community, we face huge challenges each and every day. Can you imagine going to multiple doctors who cannot diagnose your condition? Or being told that you aren’t a candidate for the gold standard of treatment for your disease? Or realising available treatment is too expensive? Or finding out that there are no surgeons in your country that can treat you?
Imagine the social system around you – school, work, social services – isn’t adapted to your needs. How about the financial burden and stress caused by having to travel hours or days to get to the only specialist that can help. Imagine that your employer doesn’t understand that some days you can work and other days you can’t.
Imagine there’s no one in your area living with your disease and that little or no research is being done. The isolation you would feel. These are just some of the challenges that people living with our rare diseases, be they a patient, caregiver, family member or friend.
Rare Disease Day is the international awareness-raising campaign for rare diseases. Since Rare Disease Day started in 2008, thousands of events have taken place throughout the world, reaching millions of people. The campaign started as a European event and has progressively become a world phenomenon, with participation in 94 countries all over the world in 2017.
The theme for 2018 is research. Rare Disease Day 2018 is an opportunity for participants to be part of a global call on policymakers, researchers, companies and healthcare professionals to increasingly and more effectively involve patients in rare disease research.
Rare disease research contributes to the development of diagnostic tools, treatments and cures, as well as improved health and social care for patients and their families.
As a patient and caregiver community, we need researchers. They discover diseases and develop treatments and cures. Researchers also need us and rely on our participation to ensure that their research is meaningful. We should not be in a situation where PMP research is done for the sake of creating knowledge; the knowledge generated is only useful if it is translated into real benefits for us as patients.
By our involvement with organisations such as Findacure, Cancer 52 and Eurordis, Pseudomyxoma Survivor is involved in efforts to take rare disease research to an international level. Only by doing so can we guarantee research will be truly effective. In turn, this will contribute to increased and faster diagnosis of PMP and therefore reduce the number of people around the world who face the daily challenge of living with undiagnosed disease.
Our patron, Sean Hepburn Ferrer, is the Rare Disease Day Ambassador for 2018. Sean’s mother, the iconic Audrey Hepburn, passed away from pseudomyxoma adenocarcinoma. Her diagnosis today would have been pseudomyxoma peritonei.