Hi Sky

By the time my mother was properly diagnosed, I was working at a hospital and living on my own. I didn't believe her because I had access to the medical library. There was nothing about amyloidosis causing blindness, and everything I found said it was quickly fatal - an end-stage disease. I attributed all her problems to her diabetes, as that can also cause neuropathies, blindness, heart and kidney problems. She would often tell me her eye doc wanted to see me too, but I continually blew her off. When she died in 1991, her cause of death was listed as a "sudden onset of sepsis."

Five years after she died, I went to LensCrafters for a new pair of glasses. When the optometrist looked into my eyes, he literally freaked out and rolled back in his chair. He said he had never seen anything like it before. He said it looked like I had Christmas trees etched into my corneas, and I needed to see a specialist.

I was able to track down Dr. Sugar, her eye doc. When he looked into my eyes, he was like a kid in a candy store. He also pointed out my facial twitches and "frozen" forehead. He brought in all of his medical students, residents, and colleagues to take a look and he told me the story of my mother.

Mom showed up in his office because our local docs had given up on her and referred her to him at the Univ. of IL. It so happened he had just read an article about a very rare disease discovered in Finland that caused corneal lattice dystrophy II, which was later found to be familial (hereditary) systemic amyloidosis. Not only did mom have the same symptoms, the patients photographed in the article were her cousins in Finland. Mom was the first documented case in the U.S., although my grandmother had it too (she died before the disease was discovered).

Finding no answers on treatment/cure, I became desperate. I wrote an open letter to the University of Helsinki in 1998. Dr. Kiuru responded and was very helpful. She had studied my family and wrote her doctoral thesis on our familial disease - even traced the mutation back 700 years to a single ancestor. She sent me a copy of her doctoral thesis, and it blew me away. It was almost like reading mom's diary of symptoms that we all blew off as "hypochondria."

Why would you say "IF" I have this disease? If you don't believe me, contact my eye doc: Joel Sugar, M.D. - Univ. of IL Medical Center.