Rare Disease Day is also a day to celebrate my incredible sister Annie.
Her rare disease journey, like so many others, started with a complex diagnosis process. Her first diagnosis was appendicitis and then bowel cancer. But worryingly, during her 10-month course of chemotherapy, new tumours started growing in her abdomen area – something wasn’t right.
Finally, she was diagnosed with Pseudomyxoma Peritonei (PMP). A cancer so rare, that only 1–2 people per million are diagnosed each year.
Frustrated and devastated, we were back to square one. With only one treatment option and just two designated centres in the UK, access to treatment seemed impossible and the consultant warned of a long wait, even if Annie was accepted. We knew we had to fight.
Our initial pleas were heartfelt, but not that strategic! “But she makes breakfast for the homeless, teaches a classroom of 5-year-olds and has 5 children of her own and she DESERVES a fighting chance,” I remember hollering at our somewhat bemused consultant.
We navigated through a minefield of complexity and uncertainty
Fast forward, and with the full force of the family support team, we navigated through a minefield of complexity and uncertainty. We encountered conflicting advice, clocked up hours of travel and phone calls and worked around health setbacks.
But Annie eventually secured a place at the Basingstoke Centre of Excellence. The cytoreductive 11-hour surgery involved the removal of all visible tumours and multiple organs from the abdomen area. This was followed by filling the area with heated chemotherapy solution to kill any remaining cancer cells, known as the Sugarbaker technique (named after Dr Sugarbaker an oncologist who pioneered this approach). It was an intense long surgery, but one that offered a shot of survival.
Annie is now cancer-free
Annie’s story is one of hope for the entire rare disease community, but the fight is not over. PMP has high recurrence rates and research is our best weapon. Current clinical research is exploring targeted therapy, immunotherapy and enzyme treatments in the hope of finding better options for patients.
As I reflect on my sister’s story, I am reminded of importance of supporting rare disease trials and the work we do. At Faze, we are committed to supporting rare disease trials because:
- Delays in diagnosis leave patients feeling lost – awareness and education can change this
- Access to specialist centres is a logistical nightmare – we must improve access to treatment & research
- The patient voice is often unheard – advocacy groups and patient communities can be a powerful force for change
Rare disease patients deserve better. Better awareness. Better treatment. Better research. Today, we fight for Annie – and for every rare disease warrior out there.
