I was praying this wasn't Familial

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ccraig1771

Member
Joined
Oct 5, 2015
Messages
19
Reason
CALS
Diagnosis
09/2015
Country
US
State
CA
City
Eureka
My mom was diagnosed in September with no other known relatives with the disease. I felt pretty secure that this was not something that would be passed on to me and my children. However I got word this morning that my mom's sister may have ALS. I am pretty scared. I know that I have a fifty percent chance of not having the gene. But I don't know if I should be tested. Any thoughts.
 
It is MAY have? Do not worry too much until you know. But what I strongly advise is that you get your parent tested for all the currently testable genes. Read the sticky for this section but basically you need an affected person tested. Do it even if you are not sure about testing yourself. Once your affected relatives are gone testing when you don't know what you are looking for is not really an option. A negative test would tell you nothing
 
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Nikki, thank you for your response. Do you happen to know the statistics of how likely I am to get ALS if I have the mutation?
 
It depends on the mutation. There is not just one. You are jumping over a couple of bridges here. Your aunt is not confirmed. It has happened before here that a second relative was suspected to have ALS and did not. But I would move on testing your mom just in case. I know people with definite FALS history who want to be tested but their mutation is unknown. Athena who did my testing had an option to come to the house to draw the blood. The doctor faxed an order, they mailed me a package with the paperwork and tubes. I could have then made an appointment for a home draw but chose to go to a local lab. The two most common mutations C9 orf72 and SOD1 have gene blocking trials being developed
 
Thanks Again NIkki! I am trying to stay calm. I'm a nervous Nellie theses days. I don't know if I can have my Mom tested but I will try. She is very emotional fragile. I don't want to upset her.
 
Hi ccraig I understand your concern. My aunt passed away from limb onset ALS in 2013. My mom was diagnosed with bulbar onset ALS in 2014. We have no genetic info from my aunt. Mom's Neuro finally submitted the lab order for genetic testing last month. Her draw was sent to Prevention Genetics to test for 21 genes. They quoted me $1500 for the testing. We should get results back in about three more weeks.

I agree to take it one step at a time. Hopefully ALS is ruled out in your aunt. But keeping in mind once the person with ALS passes the opportunity to test is gone you may decide having the testing done is the right choice for your situation.

All the best to you, I understand what you are going through.
Stephanie
 
Hi,
My dad is 81 and has been diagnosed with ALS since May of 2012. We tried to track and see if anyone on his side of family had it. We couldn't come up with anyone. Well, until today when we got a call that dad's second cousin has ALS and it was just confirmed. She's in her mid-70's. My question is "Why would I want to know if we carry the gene?" Wouldn't it just cause me to worry the rest of my life and my kids and myself etc. There is nothing to do that would stop it is there? I know if you carry cancer genes sometimes they put you on medicine etc. But, there would be nothing for ALS right? The only advantage to know would be probally to get better health insurance or life insurance before your diagnosis. What ther benefit is there in knowing. Thanks, Kim
 
Why get tested? It is individual but
1 you can plan
2 you can be part of research. The only way they are going to fix the genetic defects is by studying people who have them.
3 there is eventually going to be preventive / curative treatment you can have before you get symptoms targeted to the specific defect you have to know what it is obviously to take advantage of this
4 more than one neuro has said privately that they think starting riluzole before symptoms can help delay onset and that it will be standard in a few years.
 
For me Kim it is one step at a time. The sample has been taken, it is out for testing. That was the only rush. If a defect is reported then any next steps do not have to be rushed.
 
Also Kim if there are zero other relatives with ALS or other neurodegenerative diseases and it is a second cousin you might hope for coincidence. One of my cousins lost his mom ( and multiple relatives on his mom's side) but also a second cousin on his dad's side. In this case it was clear the second cousin was not related by blood to his mom but was still a case of 2 relatives coincidentally having ALS. There was someone on this board who had 2 relatives with SALS ( husband and her mom I think or maybe a sister) so it does happen
 
Thanks for the info. I know my dad had at one time some blood or tissue turned in the some type of research. It wasn't to test to see if we carried the gene but it was some type of research they were doing.
 
It is MAY have? Do not worry too much until you know. But what I strongly advise is that you get your parent tested for all the currently testable genes. Read the sticky for this section but basically you need an affected person tested. Do it even if you are not sure about testing yourself. Once your affected relatives are gone testing when you don't know what you are looking for is not really an option. A negative test would tell you nothing

Yes it is a "May". As a matter of fact I am a little upset with my cousin who jumped the gun and told me the "news" early Monday morning. Her story went from "She was diagnosed" to "her doctor wants her tested. My Aunt apparently has facial drooping and slurring, which can be signs of stroke or Bels Palsy from my understanding. So long story short my Aunt told her doctor about my mother's diagnosis and they are testing her based on that. I doubt that she has als. I am praying that it isn't. I want my mom's disease to be sporadic so that I can go on believing that my children will not get it.
 
I am happy to hear that her symptoms are far more likely to be something else as you say. Will pray that It turns out that way- for all your sakes. Let us know, if you would be so kind
 
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