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Rare Disease: Fabry disease focus

January 19, 2021 @ 12:00 pm 1:00 pm

  • Description: Although each rare disease may only affect a handful of individuals, taken together the number of people directly affected is significant where 1 in 12 Canadians are affected by a rare disease. Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment. Patients with rare diseases often present to primary care first, therefore primary care allied health professionals can play a crucial role in a rare disease patient’s journey. Please join us in this webinar series to learn from Dr. Andrew Cave’s experiences with rare diseases in a primary setting, a high-level overview of two lysosomal storage disorders, Pompe disease and Fabry disease, and how you can play a role in improving the delivery of healthcare in these patients.


  • Overview of Fabry disease & role of primary care in disease detection 
  • Highlighting unexplained cardiac/renal signs/symptoms in primary care setting

Speaker bio:

Dr Andrew Cave is a Professor of Family Medicine at the University of Alberta where he has worked since 1992.

He trained in the UK and was a general practitioner there in rural Somerset for 17 years before moving to the U of A. In his UK  practice he worked with two community based nurses, two community midwives, a public health nurse and two in-house nurses who ran the treatment room and the woman’s health clinic and the asthma clinic. It was attending the nurse’s asthma educators’ course (compulsory) that resulted in Dr Cave’s future interest in management and research of respiratory diseases. His first asthma research study in 1990 explored the effect of a nurse-run clinic on asthma outcomes in general practice.

It is, therefore, not surprising that Dr Cave is very much involved in team work in primary care in Edmonton where he works with clinic nurses, a chronic disease management nurse and a preventive cancer screening nurse as well as a clinical pharmacist and a respiratory therapist. He has completed a number of studies with nursing colleagues in both the areas of asthma and TB and has examined several nurses for PhD.

He came to increased awareness of rare diseases in primary care through a study of Alpha-1 Antitrypsin Deficiency, an uncommon genetic cause of COPD in non-smokers, and realised what a neglected area of diagnosis and care the rare diseases are.

Free – $40


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