Rare Disease Doesn’t Just Affect the Person Living With It. It Reshapes Life for the Whole Family.

Epic is an electronic health record designed to bring patient information, clinical workflows and care processes together.

Across the NHS, it is replacing multiple legacy systems and giving clinicians greater access to a patient’s record. But having a comprehensive electronic health record does not automatically mean that the patient’s entire care journey is connected. Rare disease puts that distinction to the test.

Rare conditions rarely follow a standard pathway. Patients may see multiple specialties, hospitals and specialist centres, often across different organisations. Epic has interoperability capabilities and can exchange information between NHS organisations, but the wider challenge remains how information is connected, presented and used across complex care pathways.

For clinicians, the challenge is not simply having information available. It is ensuring that the right information is visible, connected and meaningful when it is needed.

Rare disease also challenges how clinical information is structured. A complex condition does not always fit neatly into a diagnosis code, template or drop-down menu. Important clinical context can be harder to capture when a person’s experience has to fit predefined structures.
Rare disease needs digital systems that can represent complexity, not simply record diagnoses.

There is also an important question about the role of patients and families. Families often hold valuable information about symptoms, treatments, appointments, test results and specialist advice. Patient access to records is an important step, but having access to information is not necessarily the same as having a record that fully reflects the person’s experience across different services.

This is where PPIE and lived experience have an important role to play.

If we are designing the next generation of electronic health records, we should be asking patients and families what information matters to them, how it should be presented and what would genuinely help them and their clinicians make sense of complex care.

Epic is powerful technology, but the real measure of an electronic health record is not simply how much information it can hold. It is whether it helps clinicians see the person behind the record.

For rare disease, that means designing digital systems around the reality of complex, lifelong and often cross-specialty care.
So perhaps the question is not simply:
“Does the EHR work?”
It is:
“Does the EHR reflect the reality of the patient?”

If you work in digital health, rare disease, research or healthcare, please share this.The people living with complex conditions should have a voice in shaping the electronic health records designed to support their care.

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