A charity registered in England and Wales (no ) and in Scotland (no. SC039299). A company Limited by Guarantee (Number ) Facilitating Networks of Expertise Project Launch

A charity registered in England and Wales (no ) and in Scotland (no. SC039299). A company Limited by Guarantee (Number ) Access to experts in rare disorders is often extremely difficult for patients and families with rare genetic disorders. Patients often describe communication amongst health professionals as one of the biggest obstacles to their co-ordinated care Lack of co-ordinated care is an issue for many affected by long-term rare conditions Patient support groups often have a key role in helping patients and families to access clinicians who are interested in and have expertise in their condition. The need for this project...

A charity registered in England and Wales (no ) and in Scotland (no. SC039299). A company Limited by Guarantee (Number ) Patient Support Groups involved in the project Ataxia UK Cavernoma Alliance UK BDF Newlife (also supporting families affected by Noonan Syndrome) Costello Syndrome Support Group (incorporating UK representatives for CFC Syndrome) FAP Gene UK Hypomelanosis of Ito Family Support Group Polypeople The Noonan Syndrome Support Group The Neuro Foundation Genetic Alliance UK Rare Dermatological Network: Hypomelanosis of Ito HITS Rare Neurological Network: Ataxia UK & Cavernoma Alliance UK Ataxia UKCavernoma Alliance UK Rare Cancer Group (FAP Gene UK, Costello Kids) Rasopathy SyndromesFAP Gene UK

A charity registered in England and Wales (no ) and in Scotland (no. SC039299). A company Limited by Guarantee (Number ) Our vision for our members and the families they support : Improved access to clinicians with experience and understanding of their condition. Improved communication between healthcare professionals involved in the care and management of their condition An increased amount of information available and in a way which is easy to understand Improved coordination of care irrespective of where they live. Project aims & objectives... Consultation with Patient support Groups Gaps in service provision identified Consultations with member groups who have established Networks Clinicians with interest in each subset approached Successful strategies facilitating the creation of Networks are identified.

A charity registered in England and Wales (no ) and in Scotland (no. SC039299). A company Limited by Guarantee (Number ) Themes which emerged from each of the groups we consulted with: -Multi-service working/falling through the gaps -Isolation/doing it alone -Knowing the ‘science’ behind the condition -Delay in diagnosis -Need to push for services and treatment/doing things yourself Shared Experiences “ I was lost in the system when working between two health authorities …there are not enough doctors and healthcare professionals who know about FAP”

A charity registered in England and Wales (no ) and in Scotland (no. SC039299). A company Limited by Guarantee (Number ) Proving the effectiveness of this working model! Rasopathies network: House of Lords Reception Study Day for Health Professionals Cavernoma Alliance UK Clinical guidelines for health professional Ataxia UK Study Day for Health Professionals HITS Support Group Patient Resource FAP & Polypeople Research work looking at patient care & communication FNE Achievements

A charity registered in England and Wales (no ) and in Scotland (no. SC039299). A company Limited by Guarantee (Number ) Ataxia UK: building on the success of the study day and using the format to replicate the day in another location Rasopathies Network: Lead clinicians very keen to use this concept and extend it to ‘study day road show’ around the UK CCM clinical guidelines to be presented in Chantilly and disseminated widely HITS Patient Resource – empowering patients FAP providing patient experiences to contribute to the clinical rationale for centres of excellence for the condition A view for the future...