The Ciliopathy Alliance

5th Anniversary MeetingICH

19 October 2015

Programme for today1pm Welcome - Dr David Miller, Chair, Ciliopathy Alliance

1.10 Ciliopathy Alliance Survey & Strategy - Tess Harris, Ciliopathy Alliance

1.45 Introduction to the proposed new Ciliopathies Service - Dr Richard Scott, Consultant in Clinical Genetics, GOSH

2.15 NHS England process for establishing the new Service - Dr Edmund Jessop, Public Health Adviser, Highly Specialised Services, NHS England

2.45 Update on UK research - Dr Hannah Mitchison, GOSHCC Reader in Molecular and Medical Genetics, Institute of Child Health

3.15 Discussion - All

4pm Tea

2011 2012 2013 20142010

Meeting of UK ciliopathy patient

groups Rare Disease Day

2015

Brief history of the Ciliopathy Alliance

Ciliopathy Alliance

launched at Cilia Awareness Day at ICH, London

Established as a UK Charity,

international membership

Organised 1st International

Cilia Conference

Organised 1st Family Conference

(Jeans4Genes grant)

Awarded Big Lottery grant to develop 3 year

workplan

Our vision: ‘Improved quality of life for children & adults living with ciliopathies’

Participated in Horizon 2020 bid

Steering committee Cilia 2014

UK and international membership

~35 associate members (doctors/scientists/trustees)Cincinnati Children's HospitalNational Institute of Sensory Organs, Japan

What are our aims?o Advocate for those affected by ciliopathies: patients/families/carerso Promote understanding and awareness of ciliopathieso Share knowledge & expertise; rare disease plans & policieso Promote research and best clinical practiceso Bring families/patients together with

clinicians/researchers/commissionerso Support isolated patient groups for the rarer conditions, eg Jeune

Foundationo Help families without support groupso Develop common resourceso Organise conferences, seminars, patient eventso Create ‘roadmaps’ of careo Build an international alliance

2014 - Awards for All Grant to Develop 3-Year Strategic Workplan

Purpose:o Unify patients’ voices in the UK – helping us to advocate

for integrated, nationally commissioned services and equality of access to services.

o Increase awareness of our work, empowering ciliopathy families to work together.

o Strengthen the CA through collaboration.o Improve partnership working/shared best practice.o Enhance the knowledge of health and social care needs.o Improve our strategic planning capability.

Development of the workplan involved

o Reviewing the outputs from the 2013 Ciliopathy Alliance Family Conference.

o Holding a members’ workshop to discuss possible activities.

o Assessing the external context, in particular the work of the individual member charities, changes within the NHS and social care, and relationships with relevant stakeholders.

o Consultation, via a survey, with parents of children (under 25) diagnosed with ciliopathies.

Ciliopathy Alliance Family Conference 2013

We brought together families, patients, clinicians, researchers & other experts

We wanted to share understanding, pool knowledge and expertise, form a network

Make an impact

Through conversation and action

To create a better future

2014-15 Survey: approx 100 questions on

o Diagnosis, including genetic testing and counsellingo Experiences of hospital clinicso Experiences of GP and nursing serviceso Experiences of education and social serviceso Family and personal finances and employmento Impact on parents’ relationships, health and quality

of lifeo Potential services that could be delivered by the

Ciliopathy Alliance

2014-15 Survey highlights

o The key findings highlighted the impact of caring for a child with a complex, multisystemic condition necessitating frequent attendance at hospital clinics and associated economic burden.

o The negative effects on the parents’ quality of life were evident, for example the anxiety and stress about the uncertainty of progression and the future for their children.

o Amongst the needs expressed by parents, ‘information’ was a key theme – for themselves and for the professionals involved in the care and support of their children.

How could the CA help?

1. Phone helpline

2. Email helpline

3. Information hub or web portal

4. Support groups

5. Chat forum or FB group

6. Directory of health professionals

7. Links to other families willing to share experienc

8. Newsletter

9. Organised events for families

10. Information packs for schools and social services

11. Educational and information materials for GPs

12. Advocacy service for help with benefits

0 0.5 1 1.5 2 2.5 3 3.5 4 4.5

3.03

3.82

3.75

3.34

3.8

3.58

3.83

3.41

3.16

3.6

3.74

3.36

Chart Title

Summary of issues for the strategy

o Complex care needs:o Health and social care services not joined upo Very few patients have clear care pathwayso Unequal access to statutory services

o Lack of knowledge about ciliopathy conditions:o No national registrieso No guidelines

o Lack of licensed therapies - no UK-wide research agenda

‘Progress Through Partnership’

Strengthen and sustain the Ciliopathy Alliance network of

patient groups and professionals in the UK

Campaign for equality of access to multidisciplinary, joined-up health and social

care services for all ciliopathy patients

Establish a national ciliopathies resource for

shared knowledge, learning and best-practice exchange

Develop a UK research strategy focused on what matters most

to patients, families and clinicians

4 strategic aims for 2015-18

Potential actions

o The ‘Ciliopathies Charter’ – call for coordinated careo Consensus Meeting/Conferenceo A Guide to Ciliopathies – for GPs, schools, social

serviceso Increased patient group networkingo Research Priority Setting Partnership (PSP)o Ciliopathies Clinical Study Groupo For discussion later!

Join us in our mission!Free membership

www.ciliopathyalliance.org