Tess Harris presents a brief history of the Ciliopathy Alliance and the strategy for the charity to 2018.

1. The Ciliopathy Alliance
5th Anniversary Meeting
ICH
19 October 2015

2. Programme for today
1pm 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

3. 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

4. UK and international membership
~35 associate members (doctors/scientists/trustees)
Cincinnati Children's Hospital
National Institute of Sensory Organs, Japan

5. What are our aims?
o Advocate for those affected by ciliopathies:
patients/families/carers
o Promote understanding and awareness of ciliopathies
o Share knowledge & expertise; rare disease plans & policies
o Promote research and best clinical practices
o Bring families/patients together with
clinicians/researchers/commissioners
o Support isolated patient groups for the rarer conditions, eg
Jeune Foundation
o Help families without support groups
o Develop common resources
o Organise conferences, seminars, patient events
o Create ‘roadmaps’ of care
o Build an international alliance

6. 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.

7. 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.

8. Ciliopathy Alliance Family Conference 2013

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

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

12. Make an impact

13. Through conversation and action

14. To create a better future

15. 2014-15 Survey: approx 100 questions on
o Diagnosis, including genetic testing and counselling
o Experiences of hospital clinics
o Experiences of GP and nursing services
o Experiences of education and social services
o Family and personal finances and employment
o Impact on parents’ relationships, health and quality
of life
o Potential services that could be delivered by the
Ciliopathy Alliance

16. 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.

17. How could the CA help?
3.03
3.82
3.75
3.34
3.8
3.58
3.83
3.41
3.16
3.6
3.74
3.36
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

18. Summary of issues for the strategy
o Complex care needs:
o Health and social care services not joined up
o Very few patients have clear care pathways
o Unequal access to statutory services
o Lack of knowledge about ciliopathy conditions:
o No national registries
o No guidelines
o Lack of licensed therapies - no UK-wide research
agenda

19. ‘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

20. Potential actions
o The ‘Ciliopathies Charter’ – call for coordinated care
o Consensus Meeting/Conference
o A Guide to Ciliopathies – for GPs, schools, social
services
o Increased patient group networking
o Research Priority Setting Partnership (PSP)
o Ciliopathies Clinical Study Group
o For discussion later!

21. Join us in our mission!
Free membership
www.ciliopathyalliance.org