2. 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.

3. 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

4. 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

5. Thin skin/Visible veins

6. Easy Bruising

7. 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

8. 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

9. NHS Ehlers-Danlos Diagnostic Service

10. 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

11. 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.

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

14. 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

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

16. 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

17. 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

18. 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

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

20. Vascular EDS Conference

22. 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