FALS and gene testing

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Nikki J

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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.
 
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Nikki J

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PALS
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I should add if you are an asymptomatic close family member of obvious FALS seriously consider getting involved in research. They desperately need to get data from carriers to develop the biomarkers to a point the FDA will allow asymptomatic trials

In addition if they find ways to diagnose earlier everyone will benefit.

If you can’t participate for medical geographical or other reasons donate, fundraise or advocate. The life you save may be your own!
( or your sibling, child ,cousin etc)
 

MJALSWarrior

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PALS
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12/2017
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US
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I was just approved for a full spectrum gene testing. I am retired Navy and there is a significant instance of ALS on my moms side of the family. They usually only test for the most common mutations but due to the fact that I spent 3 months breathing oil smoke after Sadaam set all the oil fields on fire and have had significant medical issues ever since, they think it is best to look at all of them.
 
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