Yvonne Zurynski Rare Disease Summit – Melbourne 27-28 March 2015

Rare Diseases recognized as a public health priority by the EU (2008) 16 EU countries have adopted national plans for rare disease 12 EU countries working towards a national plan STRONG UNITED PATIENT ADVOCACY (European Organisation for Rare Diseases – Eurordis)

APSU convenes a multidisciplinary meeting to discuss the need for a national plan Principles of a national plan drafted

2008

2010

2011

2009

2012

ARC Linkage Grant:(LP110200277) Psychosocial and Economic Impacts of Rare Disease on Australian Children, Families and Health Professionals

AIM 1: Family Survey AIM 2: Paediatricians’ Survey AIM 3: Health Services Audit & Economic Analysis

Investigators: Yvonne Zurynski, Elizabeth Elliott, Helen Leonard, John Christodoulou

Family Survey Developed and validated by our team in 2012

• Demographics • Diagnosis • Health Functioning • Treatment • Health Service Use • Impact on Family • Financial Impacts • Need for Psychosocial support

Family Survey

First large scale survey Validated tools (HUI-II, MOF, IOF) Not disease specific Common issues faced by families

no matter which disease they have

Further developed for the ARC Grant – addition questions about siblings, stress and out of pocket expenses

Partner Organisations (PO) Total

AGSA CHW* SMILE SWF

Eligible Families able to complete the survey

358 465 492 150 1465

Deceased** 0 0 8 3 11

Refused 0 1 25 0 26

Not completed 268 346 333 85 1032

Completed 93 154 136 73 462‡

Return Rate (%) 26% 33% 27% 49% 32%

Recruitment

*Genetic Metabolic Service, The Children’s Hospital at Westmead

NEW SOUTH WALES

State N NSW 307 QLD 65 VIC 42 WA 15 SA 13 ACT 14 TAS 6

N=462

Sample Characteristics

Characteristics N (%) Gender

Male Female

256 (55.4) 206 (44.6)

Median Age (range), years Age Groups

0 – 5 years 6 to 12 years 13 to 18 years

8.9 (4 days – 18) 165 (36) 176 (38) 121 (26)

Country of Birth Australia Other

442 (96) 20 (4)

Ethnicity Caucasian Middle eastern Asian Aboriginal/ Torres Strait Islander Other

360 (78) 28 (6) 22 (5) 10 (2) 27 (12)

Has at least one sibling 379 (84) Other family members affected 71 (16) Survey Completed by:

Mother Father Other Carer*

413 (89) 39 (8) 9 (2)

N=462 children/families

» ~ 200 different diseases

» 27 had no diagnosis

DIAGNOSIS ~30% saw 6 - 20 doctors ~30% received a wrong diagnosis ~35% diagnosis could have been made earlier

“Waiting period caused grief by not knowing what was happening” “Not knowing what was wrong made life very difficult and we were unable to help our child”

Health service use in last 12 months Visits to: Children Total visits Visits/child General population 0-18

GPs 387 3163 8 ~3 /child*

Specialists 393 3800 9 -

Allied health 418 9700 24 -

H Admissions 257 1200 4 0.8 /child**

ED pres. 187 649 3 0.3/ child**

* BEACH data (Bettering the Evaluation and Care of Health – GP data collection) **AIHW Admitted patient care. Australian Hospital Statistics 2013 –14

Genetic Metabolic Diseases Service, The Children’s Hospital at Westmead (Jul 04 Jun13)

• 3036 hospital admissions • Represented by 385patients

Outpatient - Encounters

Emergency - Presentations

Inpatient - Admissions

• 1,571 emergency department presentations • Represented by 272 patients

• 17,254 outpatient encounters • Represented by 716 patients

Slide courtesy of Troy Dalkeith

Children required care from multi-disciplinary teams Number of different specialists and allied health professionals seen in the last 12 months:

Specialists (N) Proportion of children

1-3 60% 4-6 30% > 7 2% Allied health Professionals (N)

1-3 50% 4-6 30% > 7 6%

~40% said that they had a person who coordinates health care for their child Most commonly: specialist doctor, specialist nurse or paediatrician ~70% wanted the GP to be the coordinator BUT ~40% said GP had adequate knowledge ~90% wanted electronic medical records ~75% wanted to access healthcare via coordinated multidisciplinary clinics

Care coordination

Imagine Institute Paris: Multidisciplinary clinics integrating health care, research, patient support, community support, direct links with schools

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Specialist Doctors Allied Health Professionals

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Access to Treatment

30/462 (6%) of families said that they knew of a medicine for their child’s condition but they were not receiving this medicine

Financial Impacts ~45% did not have private health insurance

~80% received financial assistance (gvt)

~60% spent $500 - $5000 in out of pocket expenses in the last 12 months

(equipment, medications, health services, transport)

Planning a prospective pilot study of out-of-pocket expenses

Australian Mitochondrial Disease Foundation (Sean Murray)

Tuberous Sclerosis Australia (Clare Stuart)

Finding support 41% found an Australian support group 47% looked for a group overseas 94% believed that information about support groups should be provided at time of diagnosis

AGSA Contact corner http://agsa-geneticsupport.org.au/genetic-conditions/contact-corner

Orphanet Australia http://www.orpha.net/national/AU-EN/index/patient-organisations/ Steve Waugh Foundation: http://www.stevewaughfoundation.com.au SNUG Camps http://www.stevewaughfoundation.com.au/content_common/pg-snug.seo

Rare Voices Australia https://www.rarevoices.org.au/page/24/specialised-social-services

Chronic Illess Peer Support http://www.chw.edu.au/kids/chips/

Acknowledgements and thanks ARC Linkage Grant Investigators: Yvonne Zurynski, Elizabeth Elliott, Helen Leonard, John Christodoulou Partner Organisations

Genetic Alliance Australia (AGSA): Dianne Petrie, Ayesha Wijesinghe Steve Waugh Foundation: Nikki Sharp, Paul Russell, Trish van Leeuwen SMILE Foundation (Variety): Evie Smith, Tam Johnston (SMILE/Variety) CHW: Genetic Metabolic Disorders Service: Dr Kaustuv Bhattacharya; Dr Carolyn Ellaway Management Service Analysis Unit: Christine Fan, Michelline Maddaford

APSU: Marie Deverell, Amy Phu, Charmy Fernandez Students past and present: Sandra Johnson; Troy Dalkeith, Arancha Gonzalez, Anna Aminov University of Sydney University of Western Australia

Thank you to all families who completed the survey!!!