Gail Ouellette, Ph.D . Genetic counsellor Pres . & CEO, Quebec Coalition of Orphan Diseases

1. Pain Fatigue Pain fatigue, digestive… Dislocations Lack of awareness, knowledge Gail Ouellette, Ph.D. Geneticcounsellor Pres. & CEO, Quebec Coalition of OrphanDiseases EDS Needs Assessment – Overview of Patient Survey Outcomes 2017 ANNUAL CONFERENCE

3. Our Rare Disease Information Centre and EDS • Since 2014:  225 inquiries for Ehlers-Danlos syndrome + + + more thananyother rare disease • Main requests: 1) How/where to getdiagnosis 2) Findingspecialistswho know EDS 3) Information/treatment • Centre for support and research on EDSs and hypermobilityspectrumdisorders • Priorities: determiningneeds and priorities collecting data for healthauthorities

4. Questionnaire: Thanks to The LAM Foundation (lymphangioleiomyomatosis) • Collaboration between RQMO & The ILC Foundation • French and English • Thanks to Ms Alishia Poccia, volunteer student • Two-part survey: • For a person affected by EDS (14 yrs and older) • For a parent of one or more affected children (children below 18 years of age)

5. 153 RESPONDENTS - DEMOGRAPHICS / Age

6. GEOGRAPHIC DISTRIBUTION

7. SURVEY PART A (≥ 14 yrs) Q4 What are the five (5) most challenging aspects of living with EDS?

9. Q7 Name the top five (5) EDS symptoms you experience that limit you. List them in order from most bothersome to least bothersome. + 70 other symptoms

10. Q8 What is the most frustrating thing you have to deal with each day (or routinely) related to EDS?

11. Q10 The symptom or aspect of life with EDS that is most under-appreciated by my doctor is… + 18 other symptoms or aspects of life

12. AND THE SURVEY SAID….

13. Q9 What products, services or innovations could be developed to improve your life with EDS in the next 1-5 years?Q11 What would help your EDS physicians and health care providers do a better job of taking care of you? SOLUTIONS Communication and collaboration between physicians; Sharing medical records Network of specialists Practice guidelines Knowledge, ongoing medical training in EDS; Educate themselves about EDS, its complexities and comorbidities n = 26 n = 58 SUPPORT Home support Psychological Patient portal Support groups Financial Listening, understanding, empathy EDS clinics, One-stop place for health services Comprehensive multidisciplinary treatment program n = 12 n = 11

14. Q11 What would help your EDS physicians and health care providers do a better job of taking care of you? • “To understand that we know that we are complex patients and that it is • by no fault of our own. That if they would just sit down and talk with us • as normal humans instead of a burden that we could get everything done • and get it done faster. Just work with us and instead of being intimidated by us • because we know more about our illness than they do to take the time • to learn from us and be challenged to learn more so that they are in the • position to provide better treatment for the next EDS patient that they see.”

15. Q9 What products, services or innovations could be developed to improve your life with EDS in the next 1-5 years?Q11 What would help your EDS physicians and health care providers do a better job of taking care of you? SOLUTIONS EQUIPMENT Better adapted orthoses and prostheses Better adapted walking aids Access to compression garments Pain control: TENS, prolotherapy, etc. Oxygen therapy Ergonomic equipment for daily chores RESEARCH Stem cells/genetherapy/Cure Research on pain treatments On non-opioidmedication, cannabis On adverse effects of meds To relieve joint problems n = 36

16. Q9 What products, services or innovations could be developed to improve your life with EDS in the next 1-5 years?Q11 What would help your EDS physicians and health care providers do a better job of taking care of you? SOLUTIONS • “I want a compression suit that could be charged like a tens machine • that you can add 3D printed bracing on the outside of that could be recycled • - my intellectual property but would sign it over to anyone who • could make it happen. Bonus if the suit could go into an epsom salt tank.”

17. SURVEY PART B - 47 %RESPONDENTS HAVE CHILDREN WITH EDS • Most under-appreciated by doctor: • - Pain • Fatigue • GI problems

18. « PATIENT ENGAGEMENT » To live a better life with EDS: your engagement in your care and in research (1998) • PATIENT ENGAGEMENT • IN YOUR CARE • Patients as partners • Shareddecision-making • Part of yourrole: Be informed; keep a journal; • Self-management tools/techniques • IN RESEARCH • Not justbeingrecruited, participating and funding • Strategy for Patient-OrientedResearch (SPOR, CIHR) • “Don’t just ask what researchers can do for you -  • ask what YOU can do for research” • Research by patient organizations; registries; biobanks NOT JUST ADVOCATING NOT JUST BEING CONSULTED BUT, TAKING PART IN DECISIONS “No policy should be decided by any representative without the full and direct participation of members of the group(s) affected by that policy.” - Wikipedia

19. MOST OF ALL….THANKS TO ALL THE RESPONDENTSTHANKS FOR YOUR VOICE…