Tackling Fragmented Care in Rare Disease: The Need for More Centralized Information

March 2026

Hannah McPierzie
Disability Consultant, Speaker, Advocate

Christy: Hannah, thank you so much for speaking with me today. Could you tell me your story and how you got into advocacy?

Hannah: I guess I've always been in an advocacy role, in a way. I was a teacher for 15 years, for students with disabilities. Ten years ago, I was diagnosed with neurofibromatosis type 2 (NF2). NF2 is a rare neurological condition where I grow benign tumors anywhere on my nervous system. From there life took a turn and I suddenly went from being someone who saw the doctor once a year to then having lots of medical appointments, tests, and treatments across lots of different medical teams. In parallel I went from being someone who worked with students with disabilities to then going through disability myself as an NF2 patient, and I experienced many barriers within the healthcare system, especially regarding communication. After brain surgeries in 2020 and 2021 to resect the tumors, I became profoundly deaf. This experience motivated me to move my advocacy from the classroom to the wider community, focusing on communication barriers in healthcare. I now serve on boards for disability organizations like Deafblind West Australians and Deafness Forum Australia.

Christy: When you were diagnosed with NF2, what were some of the communication barriers you experienced, particularly with regards to understanding what NF2 is in the first place?

Hannah: The really hard thing obviously with rare diseases is they're rare. The first thing a patient does after leaving the doctor's office is go online and look up the name of the condition they've never heard of. They'll go to all these scary parts of the internet. But it would be great to have something more central and global with patient-friendly and patient-informed literature for different conditions, which could also link to clinical trials and specialists for specific conditions and for different aspects of care.

For NF2, I find information on the Children’s Tumour Foundation of Australia, the US-based Children’s Tumor Foundation, or Nerve Tumours UK. I have to go between these 3 to stay informed, which shows how fragmented the support is. If it were stored in a central place, this would allow patients, regardless of their location, to access the same information. A centralized system, involving both patients and professionals, would also lend legitimacy to the information and help overcome skepticism from some doctors towards patient-sourced information.

Christy: How do you wish the pharmaceutical industry would support rare disease patients?

Hannah: For industry, it's crucial to involve patients from the very start, including research and clinical trials, to ensure they are patient-led and truly useful. And if we had a central system connecting patients, it would be a great way for industry to gather diverse patient voices from around the world for research or focus groups.

Christy: Have you found social media helpful for bringing together rare disease communities?

Hannah: I have; it’s interesting with social media. I use LinkedIn for advocacy, to raise awareness of issues and barriers to clinicians, industry, and universities. But people with the actual condition are often not on LinkedIn. For peer support, I use Facebook. So, again, they are fragmented, with different platforms serving different purposes.

Christy: Thank you so much Hannah. My take-aways are that: 

• Despite some rare diseases having organized, well-informed international patient advocacy groups, it’s certainly not the case for the vast majority
• There needs to be a better system in place so the small numbers of patients who may be scattered around the world with any one particular rare disease can connect and access the world’s specialists, clinical trials, and the most effective current management
• And that would be a win for industry too, being able to tap into the knowledge and experience of rare disease patients!