Anyone with Familial ALS?

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sara06

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Jenison
My family has SOD1 A4V. Does anyone here have this specific type of ALS? I believe there is only 300-600 people in the world with this kind. Pretty rare, we must all be related somehow. Just curious to know if anyone has it and if they may be related to any Bly's, or just can't trace their family tree.
 

donnainwash

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Nov 12, 2006
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PALS
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9/2006
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uni
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Washington
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Elma
familial family

Hi, I am looking for more informa tion about familial. I saw your message. How did you get tested and know that your family has SODia4V. How many family members contacted it? I have not seen a specialist. My mother had it 18 years ago and it was very fast, she only lived 4 months after being diagnosed, mine is following the same but at a slower pace. thanks.:neutral:
 

sara06

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familial family

Hi Donna,

I am so sorry that you have this disease in your family as well. I don't have ALS, but my mother just passed from it a month ago yesterday. I have not been tested and I'm pretty sure that I don't want to... unless they find a cure or good treatment. My mother had a DNA test done at Northwestern University in Chicago. 2 of her cousins have ALS now. My grandfather, uncle and great uncle also passed from it. I don't know the details of the testing. I don't know if they maybe had some information from my uncle when he was diagnosed or a blood sample that they could go by, or if it was one of her cousins DR's that confirmed that all of them have the same gene. I don't know if you know this or not, but a certain percentage of people with FALS... I believe it is 80% have a random affected chromosome, and the other 20% have the same, they have found that ours is in the 21st chromosome. I hope that some of this helps.
 

alan911

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Nov 30, 2006
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PALS
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California
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Vacaville
Familial ALS

I'm the 4th in our blood line; a great aunt, an uncle, my brother, and me. No blood tests were done on the others. I asked Kaiser to run mine (takes several months), and I've made arrangements for tissue samples when I die. If mine is familial, it means I had ALS at conception. What a legacy to pass on to MY kids, and their kids.
Diagnosing ALS was a problem, or I made it a problem. I had falling-down-itis, went to see a neurologist, and after extensive testing he said he was 100% sure I did NOT have ALS. Six months later, a different neurologist, after two days of shock testing, said he was 100% sure I DID have ALS. Went for a 3rd opinion at a university hospital; the neurologist said ALS was only 40% likely. Two years later, I can't walk, have nearly no use of my arms, and the 4th neurologist says ALS is 80% likely. But only a post mortem will confirm it. (Oh yes, I had two more days of shock tests -- EMG).
I don't know if the swallowing, choking and breathing problems have occurred because I was told to expect them, or if they naturally have come along without my help.
When my brother went through ALS, I read anything and everything, but was devastated when he died. Now I'm there, and I appreciate THIS forum resource, but I know I have to get that darned 800 pound gorilla out of my tent and only if you've seen the gorilla do you know how hard that is.
This post doesn't have a question attached to it. My question is for God.
Alan
 

Al

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Hi alan. Welcome to the forum but sorry for your bad luck. If you could call it luck. I am the first in my family to have this and it scares the begeebers out of me that I may have passed this on to my children and grandchildren. I can relate to the different diagnosis though. I've had 4 myself and while they didn't give percentages they did waffle at times but now they all say yup you got it. Ain't life grand. AL.
 

Marjorie R. Wilcox

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Familial?

It is supposed that my husband Rick has familial ALS. His mother had a slow progression kind of motor neuron disease that they called MS back in 1950. She lived to be 60 something, but lived debiliated and lastly in a wheelchair and wasted away. She was able to bear two more sons after her diagnosis.... and lived quite a full life. We are told that Rick probably got this from her and that it should have been called ALS> What is good is that this is also slow in progressing. He has had sleep apnea for years, and his legs are weakening and losing muscle.... and now one finger won't bend. His big toes are twitching.... but he is able to function as a normal person and hardly anyone even knows there is anything wrong with him. He is 60 and has just joined the Elks Lodge here and he works during the tax return season preparing corporate returns... and he works in the yard and in the house. He drives, and he sings in the church choir and on and on..... We guess that the familial can also be variable in the length of your longevity. Some don't live long... while others almost live out their 70+ years. We all pray for an easier road, but the course isn't chosen but destined. Rick has a wonderful attitude. He makes everything a cinch in caring for him. He endured an explosion and 6 surgeries to save his leg last year. He is always positive and loving and giving... and he never complains. There will be a special place in Heaven for this man! God bless you all > Marjorie
 

Allnycole

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Oct 13, 2008
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Good Morning!

Thank you for starting this thread! I have wanted to start one for the exact same reason and apparently I don't have the permission or something.

Anyway! I can TOTALLY relate. My family also carries the A4V SOD1 gene mutation. There have been 7 total that have already died that we are aware of and an 8th that has been recently diagnosed. In addition a 9th has been confirmed to to carry the A4V gene mutation.

I have to ask, do you understand the familial ALS? When my father was diagnosed on Mar 17, 2004 I went to Chicago with him and we got information for the genetics counselor. So, if you do not know this you and your family members have a 50/50 chance that you will inherit the gene from the parent who has the gene mutation. And, if the gene is not picked up then it stops at the person above you who was carrying it. Before I heard this, I thought that if it was in the blood line anyone in that same blood line could get it and that is not true because once it is dropped it is gone from everyone below them.

I may be participating in a medical research program to help find a cure for ALS. I sent my blood work and they will be letting me know in about 4 weeks if I will be randomly chosen to be in or out of the project. I have chosen not to know if I carry the gene (mainly due to the fact that I have a daughter and my finding out could leave her too stressed). If you are interested in knowing more about that I would be happy to share.

Also, from what I know, my distant family came out of Ohio (I would have to find the exact city and names for you) but before that they were from Germany. If you are interested in looking into this as well, I would be happy to share that as well.

I'm sorry that we both carry this possiblility with our families, but I am glad that you posted and we can possibily connect. I have been looking for a support group because to be honest it is over whelming to watch member by member be taken while you stand by and can do nothing. In addition, I'm not sure that too many people understand ALS, let alone understand how you feel when you know that any and all of your family members could be targets. So, I'm here if you want to chat.

Thanks,
Robin
 
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