Dorothy

I was 2 years old when my parents took me to our General Practitioner as my Mum kept noticing that my eyes looked glazed. This was in 1957. The GP sent us up to the eye department of the Royal Infirmary in Edinburgh where we live.

The doctors were confused, and they prepared my parents by telling them they thought I was going blind and I was kept in the hospital. 

After numerous tests and calls, I was diagnosed with Axenfeld’s Syndrome. The Rieger was added many years later.

It turned out my Father, my sister, my Dad’s sister all had it. Other
members of the family did not want testing so we don’t know if it was on my Grandmother or Grandfather’s side of the family. 

The things that troubled me in my younger life was a squint, awful joint pain (mainly in my knees) and horrendous migraines with aura.  Some days I could barely walk. This was written off as growing pains by medics. My joints were very flexible.

My eye pressures were normal up until the age of 15 when I needed drops for a few years. 

In my 40’s I required drops for the pressures and after developing glaucoma I am on drops indefinitely. To date my pressures are good.  

In the late 1980’s I had a brain and hip scans. The brain scan showed hydrocephalus, which was probably present from birth. The hip scan
indicated I had hip dysplasia. I have since had two knee and one hip replaced.

More recent brain scans have also showed enlarged ventricles in the brain.

Doctors are regularly monitoring my blood pressure and cholesterol levels.

At 65-years-old, I have issues with breathing and am undergoing tests at the moment to determine the cause.

Six years ago I had my first cornea graft and I am currently awaiting my
second.