Thanks for both of your posts, it is sooo good to talk to folks who have an understanding and acceptance of the dynamics that occur with hereditary diseases.

I just had a muscle biopsy. I assume they will be looking at mitochondria. They are looking for abnormal proteins that are associated with myopathies that come with neuropathies. Some are passed thru maternal mitochondria, other myopathies are not sex linked at all, and quite a few are autosomal dominant.

I am not sure if it will be fruitful or just a dead end. All other causes for my substantial small fiber neuropathy have been exhausted at this point. If this comes back negative, then, I simply have to wait for additional pathology to manifest, or simply accept that they can find no cause.

It is wonderful that both of you undertook the journey to explore the brave new world of genetics. It will so much help the next generation, and save them so much suffering, going undiagnosed, misdiagnosed etc.

My concern is for my children. I do not want them to suffer for decades with misdiagnosis and self doubt. So if I carry a mutation, I want to know. What my grown kids do with that information is up to them. Some of it depends on what it is they find.

I do know my husband's family carries the BRCA2 gene, and just thinking about that is a bit scary. But I think a lot of people carry that gene, it is good to know it is there, and good to know that our daughters need to be vigilant.

And yes, I do think that all families carry genetic abberations and that is life.