Today I had an interesting afternoon. Its becoming more and more clear that A is suffering from LHON.
The kids and I visited my mother. It was really the first time we had a real chance to talk about it all. She talked about how in 1978 she was asked by Tufts in Boston to be part of a study. She spent the day being going though all kinds of tests. She left being told she was a 'carrier' but that she only had to worry about it if she had sons. (she had three daughters)
She found her way there after her brother developed blindness and saw doctors at Tufts. He was diagnosed with Leber's.
One of my mother's unaffected brothers was also asked by Tufts to come down for a study. He believes it was only about 6 years ago.
My mother also shared other examples of further back family members then her own mother that suffered from vision problems and blindness.
So seeing a pattern here. How long can I stick my head in the sand waiting for the geneticist to come back to us. I sent an email to the resident who is helping with our case and she is out of the office till next week. So at the earliest it won't hear till next Thursday (she really seemed to imply we would hear in a week or two. (next week would be the start of the two)
At the end of the day I was at my sister's table sharing with her what i have learned about LHON. (my sister has a 7 year old son) There was this moment where the three of us (my mother, my sister and me) were talking about the mother guilt dealing with this. How can any of us feel guilty? But we do. For one moment one beautiful moment i feel so close to them both.