Tkhalaska
New member
- Joined
- May 20, 2018
- Messages
- 8
- Reason
- Loved one DX
- Diagnosis
- 05/2019
- Country
- US
- State
- AK
- City
- Eagle River
Hello-
For the backstory on this thread, please see the original Familial ALS posting. Perhaps a moderator can combine these two?
We have received the gentetic testing results from my husbands brother, who had ALS-like neuromuscular degeneration combined with a family tree with many ALS and FTD cases including their mother and sister. His case was complicated by several other health conditions. They did discover the C9orf72 gene which in our minds was the most likely cause. Apparently the scientific community is not in agreement over how many repeats of GGGGCC you need in order to be considered as having the mutation. In his case one sample had 9 and the other had 31 which puts him just over the line ( but given the symptoms and family history we have no doubts).
Like his brother, my husband is retired military and eligible for VA care. We are exploring with Tri-care and the VA options for genetic testing. The research center we have been working with, NU, is not testing non-symptomatic family members at this time.
If necessary we will go with a commercially available test- but I do have questions in regards to if these are reported as positive/negative, or if you are told your actual number of GGGGCC sequences. May have no significance with what is now know, but you never know for the future.
There are members of the immediate and extended family who do want the testing but for whom this would be financially difficult and others who want to be tested who do not want to be told the results until they are ready to ask for them. We will be speaking with Nailah next week to see if she has any advice.
Thank you all for this forum.
For the backstory on this thread, please see the original Familial ALS posting. Perhaps a moderator can combine these two?
We have received the gentetic testing results from my husbands brother, who had ALS-like neuromuscular degeneration combined with a family tree with many ALS and FTD cases including their mother and sister. His case was complicated by several other health conditions. They did discover the C9orf72 gene which in our minds was the most likely cause. Apparently the scientific community is not in agreement over how many repeats of GGGGCC you need in order to be considered as having the mutation. In his case one sample had 9 and the other had 31 which puts him just over the line ( but given the symptoms and family history we have no doubts).
Like his brother, my husband is retired military and eligible for VA care. We are exploring with Tri-care and the VA options for genetic testing. The research center we have been working with, NU, is not testing non-symptomatic family members at this time.
If necessary we will go with a commercially available test- but I do have questions in regards to if these are reported as positive/negative, or if you are told your actual number of GGGGCC sequences. May have no significance with what is now know, but you never know for the future.
There are members of the immediate and extended family who do want the testing but for whom this would be financially difficult and others who want to be tested who do not want to be told the results until they are ready to ask for them. We will be speaking with Nailah next week to see if she has any advice.
Thank you all for this forum.