In August, rare disease patient advocacy organisation, Global Genes hosted a webinar supporting rare disease patients to effectively communicate with their healthcare providers. This week’s blog highlights the key messages taken from the webinar.

Global Genes, set up in 2009, champions the rare disease community by raising awareness and addressing the many challenges patients currently face. Their recent webinar focused on effective communication, an important topic for rare disease patients who are encouraged to take an active role in their healthcare. Panellists included Jodie Veno, Genetic Counsellor and Manager at 

Brain Care Institute &

 Center for Rare Disease Therapy and Gail Moore, Senior Manager and Patient Advocate at 

Horizon Pharma. Crucially, Gail was able to draw on her own experience, as she is a rare disease patient and caregiver.

The webinar started by addressing some of the key challenges rare disease patients face when trying to access appropriate healthcare. The lack of information about individual rare diseases is a major issue, with patients often having to educate the healthcare professional on their disease. There are also problems with coordinated care, as patients commonly report frustration at the lack of communication between medical professionals. Finally, the problem we are all too aware of: lack of time and resources. While the webinar focused on the American healthcare system, the challenges identified are undoubtedly universal.

The Effective Team

“Ineffective communication is the main cause of medical errors and patient harm”

Jodie and Gail were keen to acknowledge that relationships with healthcare providers take work. Rare disease patients tend to see several specialists, all with different priorities and it is fundamental for the healthcare professionals to align their priorities with the patients. The doctor may have never heard of the condition before, so it is important for the patient to be understanding, share their knowledge and build a partnership whereby they take on the journey together. It is also vital for the patient to have confidence in their team. Ineffective communication between healthcare professionals is a common source of frustration, yet the patient/ family member can play a central role in facilitating this.

The Empowered Patient

“Patients that are more involved with their care get better results”

Advances in healthcare have resulted in a move towards more patient-centred care, as patients are empowered to take an active role in their care. This is especially true of rare disease patients, who often have to research and learn about the condition themselves, encouraging them to become the true expert in their condition.So how can patients use this expertise to get results? Jodie and Gail noted the importance of patients defining their own goals and using these goals to direct medical appointments. Keeping a health diary is another useful tip, as it enables patients to track progress and identify symptom patterns.

PatientsLikeMe provides a useful platform to do this. By preparing for an appointment, patients feel more confident and comfortable addressing concerns and as a result, achieve better outcomes.

Patient Support

“Other patients/ parents are often the best source of information”

Communicating with other patients is an essential part of the rare disease journey. Patients can get involved in patient advocacy groups, enabling them to engage with one another, share successes and challenges and build a strong, supportive community. These connections help to reduce the isolation that is commonly reported by rare disease patients. As one of our patients said:

“It is wonderful to know that you’re not alone and there are others you can learn from and there are people that care about you”

The webinar provided a useful platform to address rare disease healthcare challenges and identify effective communication strategies to help overcome these challenges. It was valuable to get advice from experts in the field, with emphasis placed on the creation of a partnership, where both the medical professionals and the patient play an active role in the care.You can access the 

full webinar here.