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Rasl30

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Just wondering if anyone else on here has more than one afflicted family member with ALS & FTD?
My mother's (68) neuropsych testing yesterday yielded some interesting results (all confounded with damage from "mini-stroke") and so much of it fits FTD to the T. She had a abnormal EMG in October but the neurologist won't diagnose ALS until he sees progression, but as I think back to her symptoms and their increase over the last 2 years I am sure this is the case.
My brother (50) is currently endstage and was diagnosed at 44 with PLS, later switched to ALS. We didn't notice FTD with him, but then again, we weren't really looking for it either.
 
My family has pure ALS, ALS/FTD and FTD no ALS. My mom had the combination. Just because one person has the combination does not mean everyone will. With our gene ( c9) the older you present the more likely there is to be some dementia component. It is miserable no matter what I am sorry
 
Thank you Nikki. Based on the reading I've done it seems more common in c9, but who is to know for sure... the disease is so very VARIED. Hard to follow.
 
Ras do you know what your family gene is?

I'm not very knowledgeable on this at all. Always thankful that Nikki can answer these so well, though I wish she knew nothing about it either!
 
Tillie-- I don't know the gene, but I pulled primary literature. Quite literally we are at the beginning of the process. C9orf72 fits, especially with the potential FTD my mother may be experiencing. Gotta wait 3 more weeks to see the neurologist, another 4-8 (I imagine) for the "sample" collection. I doubt we'd get results until spring 2015 at the very earliest. Perhaps I am too close to it (with the time & interest to evaluate only my family history) & then pulling the relevant literature, but it seems quite obvious to me it is c9. Time will tell I guess.
 
hugs Ras.

I guess one day at a time, knowing will only give information for future generations really I suppose. You've got more than enough to deal with each day for now.

Glad you came here
 
If you are of European ethnicity then you are right that statistically c9 is the most cause of FALS and the FTD supports that as well. I do know a couple of people who had FTD in their sod1 family.

If your neurologist will order the test for you without requiring genetic counseling ( and many will if there is already a diagnosis) you could have results in a month or so. The c9 test done is isolation takes about 4 weeks. I am not sure about the whole panel and how long that takes. When my sister was tested her neuro only tested c9 as it seemed most likely, with a plan to test for others if negative. If your mom has copayments for labs something to consider

If you must have FALS c9 is at least being studied very intensively and there are a couple of treatments on the horizon. Antisense technology is likely to start phase 1 trials in 2015 according to my neuro. Small molecule therapy is forther away but that looks promising as well. Even if you carry the gene ( I hope not) there may be answers for you.
 
One neurologist was quite convinced that my husband would have the C9 gene, but my husband has tested negative for C9 and the other common ones. One good bit, I found out that C9 has reduced "penetrance", in other words, even if you have the gene, you have a reduced chance of ever having symptoms. And now that many genes have been identified, I think gene therapy is on the horizon.
 
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