I am helping to raise funds for Annabelle's Challenge, a UK charity for Vascular Ehlers-Danlos Syndrome (vascular EDS), a rare life limiting genetic disorder.
The charity raises funds for research, awareness campaigns and offers support and advice for people living with the condition.
Vascular EDS is a life threatening connective tissue disorder that affects all tissues, arteries and internal organs making them extremely fragile, it is estimated to affect between 1 in 50,000 and 1 in 200,000 people.
Patients are at risk of sudden arterial or organ rupture. Vascular EDS (previously known as Ehlers-Danlos 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.
Vascular EDS can be very variable even within the same family. It is also rare and therefore many health professionals will not have seen someone with this diagnosis.
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.