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Cookewitch
12th March 2015, 13:29
For those that don't know me my father was diagnosed with bulbar onset MND on 2 May 2013 and passed away on the 19 February 2014 just 9 and a half months later.

At the time we were told that it wasn't familial as we had no knowledge of anyone else in the family having MND. That never sat well with me, I always wondered "someone has to be first, surely?"

As a result I never read up much on familial MND and therefore don't know a great deal.

For the last three weeks I've been in New Zealand and took the opportunity to visit my Dad's brother who lives there. I was shocked to find when I arrived that his son, who is 45, is currently undergoing tests for MND. He has dropfoot, fasiculations and arm weakness as his first symptoms. At this stage of course MND has not been confirmed.

If it is confirmed (and I really hope they let me know!) it raises the question of whether it is in fact familial? I'm not sure what my next steps should be....I don't know if I want to be genetically tested or not, how easy it to get tested if he is confirmed to have MND. Could it be that as his onset is so very different to Dad's that it's not familial just a piece of extremely bad family luck??

Can't say I'm expecting 'answers' more a case of trying to get the thoughts in my head out!

Trevorhb
12th March 2015, 13:35
There is a type which can run through families, but I believe that is more unusual I think bearing in mind there is no cure, I would rather not know if I was going to get it.

njm
12th March 2015, 15:07
For those that don't know me my father was diagnosed with bulbar onset MND on 2 May 2013 and passed away on the 19 February 2014 just 9 and a half months later.

At the time we were told that it wasn't familial as we had no knowledge of anyone else in the family having MND. That never sat well with me, I always wondered "someone has to be first, surely?"

As a result I never read up much on familial MND and therefore don't know a great deal.

For the last three weeks I've been in New Zealand and took the opportunity to visit my Dad's brother who lives there. I was shocked to find when I arrived that his son, who is 45, is currently undergoing tests for MND. He has dropfoot, fasiculations and arm weakness as his first symptoms. At this stage of course MND has not been confirmed.

If it is confirmed (and I really hope they let me know!) it raises the question of whether it is in fact familial? I'm not sure what my next steps should be....I don't know if I want to be genetically tested or not, how easy it to get tested if he is confirmed to have MND. Could it be that as his onset is so very different to Dad's that it's not familial just a piece of extremely bad family luck??

Can't say I'm expecting 'answers' more a case of trying to get the thoughts in my head out!

Cookewitch:

Sorry to hear this. After much research and discussion with top researchers I have reached the following conclusion: All MND is down to faulty genes and thus genetic. 'familial' only means there is an idetifiable intergenerational expression in a family. It is likely the expression in these families is more aggressive. 'Sporadic' only means there is no recorded family histort. It makes it no less genetic. All it means that the expression has been 'weaker' and has skipped generations.

Charles

Cookewitch
12th March 2015, 15:41
Thanks Charles.....I think that is probably the most sensible thing I've ever read on the whole familial issue.....it certainly makes sense to me. Although there is the question of external factors causing the condition in some.....until they get more information on cause for sure I guess we'll not know.....there's a lot of 'not knowing' with MND!

Trevor, I'm not sure if I want to know or not. I will have to ponder than one more if there is a confirmed diagnosis.

I do know my cousin is looking to start the Deanna Protocol if diagnosed.

njm
12th March 2015, 16:17
[QUOTE=Cookewitch;45292]Thanks Charles.....I think that is probably the most sensible thing I've ever read on the whole familial issue.....it certainly makes sense to me. Although there is the question of external factors causing the condition in some.....until they get more information on cause for sure I guess we'll not know.....there's a lot of 'not knowing' with MND!

Trevor, I'm not sure if I want to know or not. I will have to ponder than one more if there is a confirmed diagnosis.

REPLY

If it is MND then the implication is that your dad's brother carried the gene and passed it on to his son. But he has not yet expressed the illness and may never. The 'sporadic' pattern carries the following implication:

In families out there there are a lot of gene 'carriers' who never develop the disease. Other gene or other factors serve as buuuffers against disease activation. My own family is a case in point: My father developed symptoms at 78 out of the blue (no family history. He died at 81. Tghe neurologist said definitely not genetic. So he was so-called sporadic and we attributed it to his occupation as a house painter (inhalation of solvents). But then at 60 I got MND. Now it was familial. So I reassert the view that it is all genetic. In my mind (and that of many leading researchers) there is absolutely no way that a disease of the primitive motor cortex can be 'caused' by some extraneous environmental factor. The latter may trigger it. Excessive sport is a proposed culprit. it is very feasible that sports and oxidation processes 'stress' the genetically predisposed DNA and trigger (earlier) onset. And there may be other triggers. But the foundational flaw lies in the inherited DNA.

Best

Charl

Cookewitch
12th March 2015, 16:48
Either way, right now, I'm grateful that I haven't had children...

Mndamiss
27th April 2016, 01:28
Currently in the same position with my partner of whether to have the gene test- the one in this case is FUS! You need to know the gene before you can have any test.
More things against having the test but the big for is obviously having healthy children and a healthy partner!
50% risk he has the gene, 50% is going to actually develop into MND and 50% it will be passed on to our children!
Got the genetics appointment in June.....

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