Annabelle’s Challenge is a UK registered charity with a brave little girl at its heart; eight-year-old Annabelle Griffin. Annabelle was diagnosed with Vascular Ehlers-Danlos Syndrome (Vascular EDS) in December 2012 aged three. Vascular EDS is a life threatening and incurable genetic condition.

Annabelle’s Challenge - Our journey so far Dec 2012 Annabelle diagnosed with vascular EDS Jan 2013 Annabelle’s Challenge launched Apr 2013 Media campaign May 2013 Website launched May 2014 UK Registered Charity May 2015 Conference planning with EDS Diagnostic Team May 2017 Vascular EDS Conference

What is vascular EDS? Connective tissue condition characterised by, tissue fragility, easy bruising and joint hypermobility. Vascular EDS was previously known as EDS Type IV Rare – between 1:90,000-1:250,000 >700 in UK Genetic: autosomal dominant mutation in COL3A1 gene up to 50% of individuals have new mutations COL3A1 gene codes for a protein abundant in connective tissue: type III collagen

Thin skin/Visible veins

Easy Bruising

Testing for vascular EDS Gene testing – available since 2006 in UK as service test Take a blood sample, Extract DNA, send to Sheffield lab Just look at COL3A1 gene/or do TAA panel Sensitive/specific test Pathogenic mutation gene change not found, clinically individual findings consistent with a diagnosis of vascular EDS Phenocopy of VEDS Rare mutation mechanism May get change uncertain significance Skin biopsy – samples taken in clinic using local anaesthetic – examined under a microscope

Benefits of knowing the specific gene change Confirms correct diagnosis Testing of other family members at risk Surveillance unnecessary if test negative Appropriate surveillance , test positive Pregnancy – PGD or testing during a pregnancy Different types of gene alterations: may be a way in the future of predicting severity

NHS Ehlers-Danlos Diagnostic Service

EDS National Diagnostic Service Set up in 2009 Now seen over 150 patients with vascular EDS Patients followed up over this time period From birth to nearly 70 Referrals to / from Annabelle’s Challenge

UK has a national diagnostic EDS service at two locations aimed at diagnosing the rare types of EDS who also have joint vascular clinics with cardiologists for follow-up of patients with rare types of EDS and vascular complications The national diagnostic EDS service is connected with DNA laboratory in Sheffield that specializes in DNA tests for hereditary connective tissue disorders Active patient organisations (Annabelle’s Challenge & EDS UK) that collaborate with medical professionals: this led to the UK’s first ever conference in May 2017.

Search term “vascular Ehlers Danlos syndrome” Publications per year in period 1949-2016

Plan – talk about new blue emergency wallet card for vascular EDS patients Recently developed Small enough to carry at all times Contains information for medical professionals in case of an emergency situation Publicising as we aim for all vascular EDS patients in the UK to carry the card Will explain how to get one Will also talk about how and why we developed it

How is the set-up in the UK for research in vEDS?

vEDS research in the UK UK is large: important for rare disorders prevalence could be 1:50,000: Byers et al 2017 1260 people with vEDS

Future needs Create an international web-based registry of individuals with vascular EDS with permission to contact and re-contact for both clinical information and involvement in clinical trials Provide newly diagnosed patients a support and sign posting guide

Why is involvement of people with vEDS so important? - More Insight into natural history of vEDS - Development of better management strategies - Research questions that need to be answered - Motivation for research - Funding: involvement of patients in research projects

promote international cooperation and collaboration through yearly scientific/clinical meetings in revolving venues

Vascular EDS Conference

54 Medical Professionals 50 Vascular EDS Patients 240 Conference Delegates 140 Friends, Family, Carers 54 Medical Professionals 50 Vascular EDS Patients Germany, Denmark, France, Aland, Jersey, Isle of Man, UK, Australia & USA