Objective: This e-poster will provide insights into the patient perspectives of presentation and diagnostic/management process for their condition. It will also explore how Fahr Beyond (a UK-based PFBC charity) has worked with clinicians at University College London Hospitals to better support patients with PFBC. This is a follow up of findings in a patient survey conducted in 2021, and focuses more on the responses by Fahr Beyond and the National Hospital for Neurology and Nurosurgery.

Background: Fahr’s Disease (known as Primary Familial Brain Calcification) is a parkinsonism, the current diagnosed prevalence is thought to be approximately one in a million (Magrinelli, 2022). Fahr’s Disease is characterised by bilateral dense calcification of the brain often involving the basal ganglia, cerebellum, and cortex; patients often present with a range of cognitive, physiological, urologic, and psychiatric conditions (Manyam, 2014). There has been a lack of research into the clinical manifestations and needs of patients.

This poster is based on research conducted by Fahr Beyond in 2021 into patient perspectives on Fahr’s. Since then the charity has worked with the community and clinicians in the NHS and elsewhere to develop support for patients such as a Fahr’s referral service based in London at the National Hospital for Neurology and Neurosurgery, within Prof. Bhatia’s Movement Disorders clinic.

Method: 2021 – JISC Survey

Results: Survey findings highlight how 18 patients have been diagnosed and by which type specialty of medical practitioner. Findings show how patients are currently having their condition managed and by whom, this is compared with perceptions of patients’ belief about their care. Fahr’s patients’ challenges align with in the UK Rare Disease Framework (2021).

We discuss how these findings have helped shape a Fahr’s Disease specialist service at UCLH and the way in which that should operate. We call for a case for integrating a more holistic approach to patient care and allows us to advocate for minimum diagnostic and care standards with NICE.   

This has led to: 

Fahr’s Referral Service

Patient Leaflets

Fahr’s Biobank

Patient-clinician Webinars

Online community

Conclusion: The 2021 survey highlighted the significant variability in diagnosing and managing Fahr’s. Furthermore, the survey has been powerful in shaping the support that Fahr Beyond and the NHS provide for patients with PFBC.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/fahrs-disease-a-response-to-patient-perspectives-of-presentation-and-clinical-expectations/