Fun facts about Australia. Family history with Fabry disease. Activities in the Fabry community. Fabry disease in Australia.

1. FSIG Expert Fabry Conference
10th February 2018
Megan Fookes; Managing Director, Fabry Australia

2. Background
My Family Sydney, Australia

3. Australia - Geography
• Australia is 6th largest country in the world
• Largest island in the world
• 34,218 kilometres (21,262 miles) of
coastline - over 10,000 beaches!
• Australia is approx. same size land mass as
USA (exclude Hawaii & Alaska)
• 6 States & 2 Territories
• Population – 24.7 million (approx.)

4. Australia – Fun Facts
“Everything wants to bite, sting you or
eat you” in Australia!!!!
• 5 of the top 10 venomous snakes
• 5 of the top 10 most deadly spiders

5. Australia – Fun Facts
And the BIG THREE – sharks, box
jelly fish and crocodiles

6. World’s Cutest Animals

7. ‘It all started with Dad’
• Lived in rural Victoria
• Extreme weather
• Suffered years of unexplained pain
• “Growing Pains”
• Elevated temperatures
• Spots on midriff
• Sport – difficult
• Doctors could not explain

8. Diagnosis At Last!

9. The Journey Continues…..
• Late diagnosis aged 48
• Stroke / rehabilitation
• Disability pension
• Bowel surgery
• Leg amputations
• Serious infections
• Pneumonia, Golden Staff, septicaemia
• Open-heart surgery
Dad 1992, Age 48Dad 1996, My wedding day

10. 1999 - present

11. FIN – Fabry
International Network

13. National Fabry Conference 2017

14. Medical Advisory Committee
Assoc Prof Kathy Nicholls Dr Carolyn Ellaway Dr Michel Tchan Dr Drago Bratkovic Dr Mark Thomas Dr Charles Denaro

15. Adult Care for Fabry Disease
• Approx. 290 diagnosed Fabry patients
• 5 Fabry Adult Clinics – WA, SA, NSW, VIC, QLD
• Patients reside in rural and city areas
• Patients travel long distances to clinics
• Clinical trial sites for Migalastat – Adelaide and Melbourne

16. Fabry Disease Treatments
• Enzyme Replacement Therapy (ERT) Replagal and Fabrazyme for
treating Fabry disease - 2004
• Patients must meet eligibility criteria via application to receive ERT
• All patients on therapy are reviewed with data collected via Fabry
Clinics
• Migalastat Galafold – Australian regulatory approval – TGA
(Therapeutic Goods Administration)
• Currently in process for reimbursement listing

17. • Geography
• Fabry disease is complex
• Diagnostic journey –delay / varies
• Access to care/services/treatment varies
• Psycho-social impact
• Impact on daily life
• Resources limited
• Hospital resources –vary State to State
• ERT reporting is tedious
• Paediatric treatments – difficult to access
Summary - Challenges

19. Thank you