dr. thombs: rare disease day 2016 conference
TRANSCRIPT
Building Patient-Parent and Researcher Networks to Improve Support in Rare
Diseases Brett Thombs, PhD
[email protected] McGill University and Jewish General Hospital
Montreal, Quebec, Canada
What Support is Needed? 2
Emotional/Interpersonal
Practical/Functional
Scleroderma Support Group Members (N = 171) Reasons for Attending
87%
91%
91%
92%
97%
0% 20% 40% 60% 80% 100% Selected “Important” and “Very Important”
Item
Spending time with people who understand what it is like to live with scleroderma.
Learning about medications used in scleroderma treatments and their potential side-effects.
Knowing that I am not alone.
Learning about current scleroderma research.
Learning how other group members deal with issues related to scleroderma.
What is a rare disease? 4
• Affects < 1 in 2,000 people
• 80% are of genetic origin
• More than 7,000 currently listed (and growing)
• 1 in 12 Canadians
Prevalence of “Common” Diseases 5
• Diabetes (1 in 10 adults)
• Rheumatoid Arthritis (1 in 100)
• Heart Disease (1 in 8 deaths under age 65)
“Common” Rare Diseases 6
• Spinal cord injury (1 in 2400)
• Trisomy X (1 in 2350)
• Systemic sclerosis (1 in 6500)
• Tuberculosis (1 in 5000)
Prevalence and incidence of rare diseases: Bibilographic data
Diseases listed by decreasing prevalence, incidence or number of published cases
www.orpha.net
Number 2 | July
Prevalence and incidence of rare diseases: Bibilographic data
Diseases listed by decreasing prevalence, incidence or number of published cases
www.orpha.net www.orphadata.org
July 2015
Prevalence and incidence of rare diseases:
Diseases listed by decreasing prevalence, incidence
www.orphadata.org
Ultra-rare diseases 7
• Ramos-Arroyo syndrome (6 cases)
• Seckel syndrome (100 cases)
• Approximately 70% of rare diseases have 1000 cases or fewer
• Approximately 65% have 100 cases or fewer globally
Prevalence and incidence of rare diseases: Bibilographic data
Diseases listed by decreasing prevalence, incidence or number of published cases
www.orpha.net
Number 2 | July
Prevalence and incidence of rare diseases: Bibilographic data
Diseases listed by decreasing prevalence, incidence or number of published cases
www.orpha.net www.orphadata.org
July 2015
Prevalence and incidence of rare diseases:
Diseases listed by decreasing prevalence, incidence
www.orphadata.org
Challenges of living with a rare disease
Pain, fatigue
Insufficient knowledge
Fear of disease progression
Finding appropriate healthcare
Sadness, depression
Appearance changes
Isolation
Mobility issues
Kole A, Faurisson F. The voice of 12,000 patients: experiences and expectations of rare disease patients on diagnosis and care in Europe.
Disease symptoms
Support Groups
v A gathering of people who share common experiences.
v Activities involve an educational component and the giving and receiving of emotional and practical support.
v They may be held in person or online; led by patients or professionals; and structured or unstructured.
Support Groups in Rare Diseases 11
Support the Supporters: Support Group Facilitator Training and
Support Program
12
Supportive Resources for Coping with a Rare Disease • Self-management: relates to tasks that an individual must
undertake to live well with one or more chronic conditions (i.e., gaining confidence to deal with medical, role, and emotional management)
• Self-efficacy is ‘‘the belief in one’s capabilities to organize
and execute the courses of action required to produce given attainments’’
What Types of Resources?
• Disease-related problem solving (e.g., interpreting symptoms, maintaining activities)
• Communication skills (e.g., building partnership with physician)
• Healthcare systems
• School and other systems
• Management of visible differences and social interactions
• Management of emotions
• Use of community resources Holman & Lorig, 2004
Scleroderma Patient-centered Intervention Network (SPIN)
• Organization of >60 people with scleroderma, patient organizations, clinicians and researchers from 8 countries working to address this care gap
• Currently 1400 patients from over 30 centres
• www.spinsclero.com
Online toolkits to support coping
Acknowledgements The Scleroderma Patient-centered Intervention Network has been funded by the Canadian Institutes of Health Research, the Scleroderma Society of Ontario, the Scleroderma Society of Canada, Sclérodermie Québec, the Lady Davis Institute of the Jewish General Hospital, and McGill University. Dr. Thombs is supported by an Investigator Award from the Arthritis Society
[email protected] www.spinsclero.com