Nikki J
Moderator
- Joined
- Mar 22, 2012
- Messages
- 16,472
- Reason
- PALS
- Diagnosis
- 04/2014
- Country
- US
- State
- MA
- City
- Boston
Were you tested at all for genetic defects? You would know this as it is a separate consent. It would not have been bundled in with all the other blood tests without your knowledge.
I am asking because my family defect c9orf72 has been found in 7 percent of SALS. Right now there is no different treatment of course but they are working on a gene blocking treatment that they hope to start trials on next year. They will obviously only be testing this on people with the defect but if you have it it does not matter if it is SALS or FALS.
C9 was only identified in late 2011 and the test became available in spring 2012. If I were a SALS person I would want to be tested. The neuros I have talked to are hop eful. This is antisense technology already used successfully for a rare form of cystic fibrosis
Best wishes
Nikki
I am asking because my family defect c9orf72 has been found in 7 percent of SALS. Right now there is no different treatment of course but they are working on a gene blocking treatment that they hope to start trials on next year. They will obviously only be testing this on people with the defect but if you have it it does not matter if it is SALS or FALS.
C9 was only identified in late 2011 and the test became available in spring 2012. If I were a SALS person I would want to be tested. The neuros I have talked to are hop eful. This is antisense technology already used successfully for a rare form of cystic fibrosis
Best wishes
Nikki