Annabelle’s Challenge is the leading charity for vascular Ehlers-Danlos syndrome in the UK, we also provide support globally. We are proud to receive The Queen’s Award for Voluntary Service.
Our charity is totally focused on raising awareness to the general public and medical profession to help aid an early diagnosis and prevent misdiagnosis of vascular EDS a rare life limiting genetic condition. We also provide support to patients and families touched by vascular EDS.
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.
At present, the life span for affected individuals is a median age of about 51 years (49 for males and 53 for females) but with a very large range from 10 years to 80 years. The prevalence is estimated as 1/50,000 to 1/200,000.
It is a rare genetic condition and therefore many health professionals will not have seen someone with this diagnosis.
The diagnosis of vascular EDS carries with it the life threatening risks of blood vessel and organ rupture, sometimes in childhood.
The clinical features typical of vascular EDS may be subtle or absent, making diagnosis difficult particularly where there is no positive family history. Sudden death in the third or fourth decade of life can be the presenting feature.
The aim of Annabelle’s Challenge is to raise awareness, support patients and families affected by vascular EDS and to encourage the medical profession to progress further with research into finding a cure.