Day 1: Patient Experiences
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CORD Rare Drug Conference: June 8 - 9, 2022 Fabry’s Disease: 20 years of evidence - Ed & Marlene Koning
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Day 1: Patient Experiences
- 1. CORD June 8 – 9, 2022 Canada's Rare Drug Strategy Conference Fabry Disease - Case Study Adrian & Marlene Koning Edmonton, AB
- 2. Fabry Disease • X-linked Life Threatening LSD caused by a Deficiency of Enzyme alpha-GAL ➔ accumulation GL-3 in all cells and tissues • Ultra orphan disease - 1 in 40,000 to 117,000 • Diagnosis difficult ➔ average 17 years • Me: 43 with total kidney failure Jan. 2001 • Life expectancy for males - between 40-50 • Koning family: 32 to 48!
- 3. Fabry Disease - Symptoms • Extreme Pain in Hands and Feet • Angiocharatomas • Gastrointestinal Malabsorption • Heart Failure • Stroke, Hearing Loss & Vertigo • No Sweating & Intolerant Temp Δ • Kidney Failure
- 4. Treatment Available 20+ years • Enzyme Replacement Therapy • Replagal™ (agalsidase alfa @ 2.0mg/kg) • Fabrazyme™ (agalsidase beta @1.0mg/kg) • Start treatment May 2001 • Why 20+ years this issue is not resolved? • Science proves its effectiveness! • Should have been dead at 50! 64 on 06/12
- 5. Fabry Disease - This is not 1959