Dr. Thombs: Rare Disease Day 2016 Conference

Building Patient-Parent and Researcher Networks to Improve Support in Rare

Diseases Brett Thombs, PhD

brett.thombs@mcgill.ca 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

spin@jgh.mcgill.ca www.spinsclero.com