Big news

I got my genetic test results back. They show that I have mutation of the gene COL3A1. This means that Dr. Saggar (Senior Consultant in Clinical Genetics at St. George’s NHS Trust and Senior Lecturer in Medicine) has officially diagnosed me with Vascular Ehlers-Danlos Syndrome Type IV (vEDS is the abbreviation), a rare genetic disease. I don’t know if this means that I don’t have M.E. or if I have both vEDS and M.E. The geneticist will be writing an extensive report so I’ll know more in the next few weeks. The vEDS certainly explains the severity of my heart problems, the muscle weakness, the fragile blood vessels, uterine haemorrhages and how dramatically worse I get with any tiny form of activity/exertion/noise/light/movement. I’m not sure if it explains the degenerative neurological situation (this is probably still M.E.?) or the lingering original virus. I’ll find out more in the coming weeks and months.

It’s been a big day for me. The 50-100 doctors who have seen me in the last 10 years should be ashamed and embarrassed. I have been pushing for these tests for 5 years. I figured out what was wrong with me when all those doctors never worked it out. Shame on them for never believing me and putting me through psychological torture. Relief and validation for me! But also anger for all they’ve put me through, their cruelty, disbelief and for not figuring it out sooner. There were so many signs and symptoms of vEDS but they were all wilfully ignored by the doctors.

Mutations in the COL3A1 gene alter the structure, production and processing of collagen or proteins that interact with collagen. Collagen provides structure and strength to connective tissue throughout the body. A defect in collagen can weaken connective tissue in the skin, bones, blood vessels and organs. Ehlers-Danlos Syndrome is incurable. Life expectancy for patients with the vascular type is shortened with a majority of individuals living only into their forties.

So, big news. It will take a while for me to process.