Nikki J
Moderator
- Joined
- Mar 22, 2012
- Messages
- 16,384
- Reason
- PALS
- Diagnosis
- 04/2014
- Country
- US
- State
- MA
- City
- Boston
If you are or are likely to be FALS, have ALS and have not been gene tested please do so unless the family mutation has been identified
It is becoming really important for practical reasons that your family members have that information.
There are multiple mutations and there are some that do not yet have a test because they have not been identified. If someone is an asymptomatic relative a test for all the known mutations would not fully reassure as it could be an unknown one.
The reason this is so critical is that gene blocking therapies are being tried for the more common mutations and the plan is that once they find something that works if they have found early biomarkers that show up before symptoms ( being heavily researched now) they plan to trial it as prevention. C9 as the most common form is being targeted particularly.
Family members need to know what to test for so they can be monitored and treated
If you are unlucky enough to be obvious FALS and negative tests consider banking your DNA for testing when other mutations are found. Northwestern has done this for research but told the families if they found something.
It is becoming really important for practical reasons that your family members have that information.
There are multiple mutations and there are some that do not yet have a test because they have not been identified. If someone is an asymptomatic relative a test for all the known mutations would not fully reassure as it could be an unknown one.
The reason this is so critical is that gene blocking therapies are being tried for the more common mutations and the plan is that once they find something that works if they have found early biomarkers that show up before symptoms ( being heavily researched now) they plan to trial it as prevention. C9 as the most common form is being targeted particularly.
Family members need to know what to test for so they can be monitored and treated
If you are unlucky enough to be obvious FALS and negative tests consider banking your DNA for testing when other mutations are found. Northwestern has done this for research but told the families if they found something.
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