Old 05-05-2017, 10:01 AM #1 (permalink)
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Default Genetic Testing - Advice, please

Hi everyone.
I am new to these forums but unfortunately not to ALS. My father was diagnosed at the end of 2004 and passed away March of 2006. My grandfather was diagnosed in 2012 and passed away early 2013 (he had many other health issues, as well.) My grandfather's brother had Muscular Dystrophy (that was his diagnosis, but now we all wonder if it was ALS. He passed away when he was 29 and this is well over 50 years ago).
For the past 13 years I have not wanted to know if I carried any of the genetic mutations since this does seem to be FALS. I really wanted to just try to live my life to the fullest and not know. (I also have 3 sisters who don't want to know.) However, I have two little girls now and recently I have seriously started to consider getting tested. I know it is far too late for me to be tested against my father and grandfather, but I was considering getting the testing done anyway. My husband and I have talked about it for years and I feel like I'm at the point where I need to know. I told my husband that I have been carrying this huge weight around with me for the past 13 years of not knowing. We are actually meeting with someone tomorrow to set up a life insurance policy for me just in case I decide to get the testing done.
I talked with my mom about it and she is supportive no matter what I decide, but she thought I should try to reach out to people who have had the testing done.
I know that without being able to be tested with my family's DNA it could come back inconclusive...but really I'm looking for advice/opinions from those who have had the testing done or those who have chosen not to have the testing done.
I appreciate all of your time. Thank you in advance.
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Old 05-05-2017, 10:29 AM #2 (permalink)
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Default Re: Genetic Testing - Advice, please

So you do understand that doing the current panel for ALS mutations and getting a negative result will not clear you as your family could carry one of the mutations not yet available/ identified?
Your result would either be positive for something so you know you have the family mutation or negative in which case you still might. Is this going to lift your weight?

You probably already know the experts do not recommend testing in your situation. That recommendation might change if we get preventative genetic treatments but that is still in the future.

I belong to a FALS group and I don't know anyone in your situation who has been tested and I know it is hard.

If you decide to go further You should see a genetic counselor and find out if they would even order it. Insurance often does not cover genetic testing in asymptomatic people even when the mutation is known.

I knew my family mutation after my sister was tested following her diagnosis. It had only recently been identified so before that I was in your situation.

I did get tested then and am glad I did because it allowed me to participate in research studies.

Be aware that the current bill that just passed the house would remove some protections against genetic discrimination calling having the mutation a pre existing condition. GINA will not be affected but apparently there were some issues before ACA was in place. Think hard before you start pursuing this through your doctor for it will be on record

There is an archived webinar on the NEALS ALS consortium website on genetic testing. I think there is a thread with the link on this subforum. You should listen to it.

Good luck. I hope you and your siblings are all unaffected
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Old 05-05-2017, 11:00 AM #3 (permalink)
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Default Re: Genetic Testing - Advice, please

Nikki -

Thank you so much for getting back to me so quickly.
Before I got pregnant my husband and I had seen a genetic counselor who was not very familiar with testing for FALS but she had discouraged me against testing for all of the reasons you stated. She was concerned how that would affect me in many ways and said that she would not recommend it - especially since I didn't have anyone to test against.
One of the biggest things that has kept me from getting any kind of testing done was the fact that it could give me false hope.
I am very concerned about the bill that was just passed and I don't want to put my family in an unnecessary situation financially.
I am absolutely going to look for that webinar.

Thank you again.

Emily
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Old 05-05-2017, 02:26 PM #4 (permalink)
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Default Re: Genetic Testing - Advice, please

Emily,

Whatever you decide, please wait until the final version of this new medical plan becomes law. Prior to Obamacare, I was advised against genetic testing for colon cancer (three of my close relatives died from it and my brother survived it) because it would be on my permanent record.

I'm so sorry you find yourself in this position but please wait.
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