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Philski

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PALS
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Hi,
This is my first post so please excuse the novice approach.

I am aged 43 with bulbar onset ALS with first symptoms being about 1 year ago.
My Mother died of MND aged 65, her case being legs onset.
I have recently been tested for SOD1 mutation and the result has come back negative.

So my question simply is am I more likely to be Sporadic or Familial. Or to put it another way how common are cases/families such as mine?

I guess it is also possible (just) that my Mother did not have MND - it was a difficult diagnosis.

Philski
 

ZenArcher

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Only 20 percent of familial ALS cases are due to SOD1. Because your mother passed from ALS you will be considered familial whether or not you have the SOD1 variant. Just realize that means basically nothing. It is possible that both you and your mother were sporadic but because of the lack of knowledge about the disease there is no way to test that.
 

olly

Extremely helpful member
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hello zenarcher

:-D it is good to see you back, i hope you are ok and feeling better.
look forward to your good posts/threads.
take care.
caroline
 

Philski

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Thanks ZenArcher

Thanks Jeff for your reply.
I wrote the post straight after getting the results of the test. A little later I read some of the general info from the local MND association and found the info that 20% of familial cases are due to SOD 1. I guess I was feeling it must be more definate due to my Neuro making a big deal of the test being negative and that being good news.
It does look like the test means nothing - really makes me wish I hadn't paid $600 for the test!
It is interesting that it was you who replied as when I first found this site (looking up Lithium info - I've been on Lithium since 21 Feb) some of the very first posts I read were yours. I was always impressed by them, well written and thought out.

So thanks again
Philski
 

DeeMichelle

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Hi Philski
I would think it's likely to be familial as SOD 1 doesn't account for all familial cases. My family have familial ALS. My Dad has Bulbar onset as did 1 of his sisters, his brother recently died from ALS and they have another sister who had it. We think my grandfather had it tho' he was not diagnosed.

It's also possible that others had it (my Dad had 9 siblings), but died of something else before ALS developed.

We are still waiting to find out if it is SOD 1.

In the UK we have some really good Consultant Neurologists who are interested in familial ALS and my family is receiving help from one of these. My dad has been offered a lot of help. Do you have good support? I truly hope that you do.

But it's true that familial or sporadic the progression of the disease is the same for both. It is quite rare I posted to find out if anyone had familial and got no reply.

Very best Wishes
Dee

In the UK there is research going on about families who have the hereditary form, but not SOD 1. This is an extract from some of the UK research.

'There have been considerable advances in the understanding of disease progression from studies on the dominantly inherited familial form of ALS (FALS) which, although rare, accounting for 5-10% of cases, is clinically indistinguishable from the sporadic form of the disease. Approximately 20% of FALS cases have been shown to be associated with mutations in copper/zinc-dependent superoxide dismutase (SOD1) . A further locus has recently been reported in a single family on chromosome 18q and a family with juvenile-onset autosomal dominant ALS has been mapped to chromosome 9q34 . These are distinct from the rare recessive forms of ALS which map to chromosome 15q15.1-q21.1 and chromosome 2q33 . However, the majority of adult-onset dominantly inherited FALS cases (~80%) can not be attributed to any of these loci and remain to be elucidated. With this as our major goal, we have carried out a genome screen in our most extensive UK families which lack SOD1 mutations. All known loci have been significantly excluded and multiple loci have been indicated in family subsets, one of which shows a significant association with disease (LOD score = +3.5) and lies on chromosome 16.'
 

arlie

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ontario
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famial als

hi i am the third person in my fAMILY TO HAVE ALS-my father contacted als in 1979 and died 5 years later
my brother died 15 years ago from als
i was diagnosed oct 07 but i know i have had it for over a year
we are scheduled to speak to a genetic counsellor this month because my kids are freaking out
we really thought it was only males in our family but it seems the females are included
i'm really worried about my older sister and her 2 children who are hitting there 40's

i would like to communicate with other als families
my email is [email protected]
 

Al

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Hi Arlie. Go to www.alsont.ca and find support group for Barrie run by Pam McFarlin. She has familial ALS and is a great person and very knowledgable. I'm sure she would be good for you to talk to.
AL..
 

DeeMichelle

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Lost a loved one
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hi i am the third person in my fAMILY TO HAVE ALS-my father contacted als in 1979 and died 5 years later
my brother died 15 years ago from als
i was diagnosed oct 07 but i know i have had it for over a year
we are scheduled to speak to a genetic counsellor this month because my kids are freaking out
we really thought it was only males in our family but it seems the females are included
i'm really worried about my older sister and her 2 children who are hitting there 40's

i would like to communicate with other als families
my email is [email protected]

Arlie I'm so sorry that you have this. I really feel for your kids. But, and I know this is easy to say and hard to do... For those of us who come from families with Familial ALS we have to find a way to live our lives. My dad has it and so far 4 of his siblings and my grandfather had it. You probably know that only 5-10% have FALS and of those only 20% have SOD1 which is the only thing they can test for right now. We have mostly all chosen to not get tested because there doesn't seem to be a benefit in knowing. A person could get it late in life, die of something else after worrying their life away. One of my cousins may get tested and says that if positive he will retire early and go travelling while he can. I think for those of us with a family history of it, but who do not have ALS (yet or maybe even never get it) we've got to somehow hold on to the fact that we're healthy and not spoil the life we have now. And don't get me wrong there are times when I see my dad progressing fast and I'm so sad and angry it really is a *@*!*@ of a disease. I've worried myself sick too about people in my family getting it and I pray that they don't. But I know all the good stuff I have too and I'm really gonna hang on to that!
I really wish you and your family all the best.
Dx
 

DeeMichelle

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Lost a loved one
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Arlie I just want to add something I felt I missed off...
I do also know how hard it is to think of passing it on. In our family most kids were conceived before we knew we had FALS. I would not want anyone in my family to feel guilty for passing it on- there's no blame what so ever. I hope that with children from families with FALS that by the time they grow up maybe more is known: perhaps research will find a way to delay onset (I know there's been so little achieved with ALS medically speaking- but we've got stem cell research and here in the UK hybrid embryo research plus a big study into FALS for people who are not SOD1) in the future maybe fertility treatment (IVF) would be able to help people detect embryos which are affected.
I do not mean any of this lightly I know the heart break here from my family, but I have to have some optimism to keep going. I have a child who I could not love and adore anymore than I do, or be more proud of and she is not my genetic or biological child. I know I'm lucky here.
I hope the genetic counselling helps you all. I'm going to see a Professor who is researching FALS and providing an advisory service from people with FALS and their families. She is mostly doing genetic research into people who are not SOD1.

Very best to you and yours!
Dee
 
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