Annabelle's Challenge is the leading charity for vascular Ehlers-Danlos syndrome in the UK.
At the heart of the charity is Annabelle, a brave little girl from Bury who is the inspiration behind our challenge to raise awareness and support for patients and families affected by vascular EDS.
Vascular EDS is a life threatening connective tissue disorder that affects all tissues, arteries and internal organs making them extremely fragile. Patients are at risk of sudden arterial or organ rupture. Vascular EDS (previously known as EDS Type IV) is a rare type of Ehlers-Danlos syndrome caused by an alteration, also known as a mutation in the COL3A1 gene.
COL3A1 gene is the instruction for making collagen type III a tough fibre-like protein that makes up a third of our body protein. When this gene is altered it causes a lack or deficiency of this collagen making the connective tissue less effective, particularly in skin, lung, uterus, intestine and the vascular system.
Because many individuals with vascular EDS (vEDS) are identified only after a severe complication or death, it is likely it did not come to medical attention and therefore goes undetected.
The median life expectancy for those diagnosed with vascular EDS is 51 and the prevelance is an estimated 1:250,000.
An early diagnosis is critical to ensure that appropriate preventative measures are taken through medical testing and monitoring.
The aim of our charity is to reduce the number of children and adults being undiagnosed or misdiagnosed by increasing awareness to the general public and medical profession.
Annabelle's Challenge provides patients diagnosed with vascular EDS a FREE MedicAlert UK membership for 12 months plus exclusive discounts when you join our charity for free.
Helpline: 0161 207 8337