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duckquack

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Mar 19, 2014
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Loved one DX
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US
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North Carolina
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Raleigh
Greetings everyone,

I am a beginner here but I will quickly mention my situation in hopes that some of you can shed some light on the topic.

ALS runs in my family and I have been aware of this since I was a small child. My father's mother died of it and he has had 2-3 siblings die of it. He was also diagnosed officially last week. This was a bit unexpected because for most of my life he has said he didn't believe he had ALS and was going to be fine.

Well lo and behold he was mistaken and I am now in a bit of a conundrum as to what my own next steps are for my family. My dad said that his mutated gene is SOD1 but he was not sure on any more specifics past that. He did mention that his doctor said he inherited the gene "recessively" but i'm not exactly sure what that means or how easily that's identified.

My brother and I are now at a crossroads as to whether or not to get tested for our sake and the sake of our families (32 & 27 years old). My questions are below and I would appreciate any insight into this:

1) My dad has the mutated SOD1 gene and likely received it from his mother. Now from what I gather, the chances of my brother or I also receiving the mutated SOD1 gene is 50% each. Now if either of us were to get the mutated gene, what THEN are our chances of actually acquiring the ALS disease in our life? Is it ALSO 50% each or is it more like 99%?

2) I've read some information regarding being a carrier of the gene and this being able to pass it to your children, but not actually acquiring the mutated gene...is this any different than the above ?

3) I have also read information regarding how the gene is inherited...e.g. dominant / recessive / XY. What is this about specifically in terms of ones chances of acquiring ALS and a mutated gene?

Thanks for any help in this matter....it's...confusing
 
Hi I am very sorry that you have to be here and particularly sorry about your dad. I think you might want to make an appointment with a genetic counselor to discuss this.
I am confused about the recessive comment. Genes that are recessive in order to have the trait both the parents have to be carriers but they may not show the trait. Blue eyes are recessive. If each parent have one gene for brown and one for blue their eyes will be brown but they could have blue eyed children. If your dad has a recessive form of Genetic ALS he wouLd have to get the gene from both parents. Most SOD1 is autosomal dominant. If you get the gene from one parent you are likely to be affected. I am not expert in SOD1. I have another genetic defect but all the people I have met who are sod1 are forms that are autosomal dominant. Their ALS comes from one side. What you describe for your family history is a dominant pattern.
So if we are taking about autosomal dominant yes you and your brother have a 50 percent chance of having the gene and a 50 percent chance of not. If you have the gene the chances of getting ALS are very high much higher than 50 percent I believe.
There is A FALS group on FB I encourage you to join it. There is a lot of research going on with genetics of ALS so the future is brighter than it was.

I hope this helps a bit. It sounds like you need some clarification on your dad's gene defect
 
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You ask a very difficult question genetic testing is a powerful tool but, what will it do to your life if the SOD1 gene shows up. I understand your concern and Like Nikki I would definitely suggest seeing a genetic counselor.

Rick
 
My father, his sister and my younger brother all died from ALS. They were all tested and had the SOD1 connection. This means myself, my other brother and all my cousins have a 50/50 chance of getting this disease during our lifetimes. I have searched the internet to learn about and implement a lifestyle that I believe will prevent ALS from starting in my body. My body runs on ketones now and my hormones are in good share especially insulin which is always very low. This is all I know how to do to not get sick. My wife is doing the same lifestyle so that she does not get cancer that runs in her family. Search "Stop ALS" and you will fine my website that I created for my family to make sure this disease does not take another one of us before a procedue is developed that stops the progression of ALS once it starts.
 
Good luck in beating this monster, I can't imagine having more than one family member going through what my husband is enduring.
 
If you have the gene marker, SOD1, our genetic counsellour said if you live long enough, they believe you will almost positively get the disease. I'm told the jury is still out on this though. If you do not get the disease before you die, but have tested positive for SOD1, you still have the chance of passing it on to your offspring. I'd be interested in seeing the data obtained from some studies on this. But too busy.
 
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