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.

This is an interesting thread. I myself know that I carry the HLA B27 Gene. http://en.wikipedia.org/wiki/HLA-B27 I don't have enough family left to check the link very far. I do know that my paternal grandmother, and my father also carry this gene and suffered the damage from it. My Dad has Rheumatoid Arthritis and I suspect my grandmother did too. She died when I was in my early 20's. But I remember her as being very crippled up and sickly. Her autopsy revealed she had cancer of the bone. That is three generations of defective gene. I don't know if my son carries this gene, he refuses to be tested and I didn't find out about my own in time to check his.

My defective gene is probably pretty common but the Sjogren's and it's damage isn't. That is one of the reasons that I left my DNA all over the labs at Mayo. Perhaps future generations will benefit from my history.

Billye

--there is the controversy now in gluten/celiac circles as to whether thaat conditon can manifest in those who have other than the human leukocyte antigen (HLA) DQ2 or DQ8 genetic subtype. (There's some evidence that some people who tend more towards neurological manifestations of gluten sensitivity, such as ataxia or neuropathy, are more likely to be subtype DQ1; apparently there are even a few biopsy-proven celiacs with that type, according to some of the work of Dr. Hadjivassiliou and colleagues).

I know Liza Jane has some knowledge of mitchondrial disorders--perhaps she'll chime in.

It is a very interesting area--made all the more confusing by the idea of genetic predisposition then being expressed (or not expressed) by environmental factors turning certian genes on or off. Much of what we know now will certainly go through revision and reparadigmization over the next decades.

Thanks for sharing your stories and expertise. There is so much out there. What surprised me was how many of these diseases are known, as are the patterns of inheritance. There is a lot out there we do not know, but there are many diseases, with set gene loci and patterns that we hear little about. Hearing what people do know, helps.

I did not think that much about heredity until lately. I knew it was a possibility, but just never thought that there were so many identified diseases, with known patterns of inheritance, that contained small fiber neuropathy!

It is good to have a thread where folks can share this stuff if they want to, and if they don't want to deal with it, they don't have to click on the thread.