Father diagnosed and genetics

[Twinkle]

How old are you Tecwyn?

Yes, be strong as your parents will need you to be. My youngest daughter who lives at home is a massive help for me physically and emotionally
Her dad loves seeing her so strong, supportive, and confident.
We don't get upset in front of my hubby, he has a lot to deal with without two crying females on the list lol

[Tecwyn]

Ha, yes I can imagine! I'm 31 and don't live with parents but really aim to be a big support to them. Do you worry at all about your children if they ever have any sort of minor illness that could be mistaken for MND? I know that my mum is going to be like that, I suppose things like that get easier to put at the back of your mind as time goes on and dads care needs increase.

[Twinkle]

Hi Tecwyn, No, I wouldn't worry, I'd be concerned and tell them to book a Dr's appointment. I'm not a big worrier. I don't dwell on problems either. What is the point in that? It's wasted time and energy.

[Lynne K]

I hope that you don't mind me chipping in Tecwyn. Worry is normal for a short time. But best to sort it out quickly because it wastes time if anybody dwells upon some unknowable negative thing. Even if you had a 50% chance of getting MND (which I doubt very much) why waste energy and ruin years of future happy times by keeping it at the front of your mind. I think that you are like me and a lot of others in that you like facts, assurity. But gaining some composure and peace while dealing with this horrid disease requires a bit of letting go of what may or may not happen in the future. As you said to Ellie earlier 'what will be, will be.' Very philosophical and true. Ask your questions of your dad's neurologist soon if you can. Get genetic testing if it will help. But whatever you do, live a full and happy life. Don't let MND take that from you. Lynne x

[Onein300]

Ok.

Just to answer the original question, but also to give a bit of evolving clarity.

The term familial is slowing becoming redundant. Early on in research the only way to study MND genetics was using linkage techniques. Without explaining this in detail, it meant that we only found the genes in families which could show some history.

Now techniques have exploded and we can analyse genetics in much finer granularity.

Also just because there are no cases in a family (largely due to recall), that doesn’t mean a case is NOT genetic related. Families are quite small these days. It is also important to know that even if you have one of the currently identified gene mutations, it is not 50/50 thar you will get MND. MND is NOT a simple dominant/recessive gene inheritance disease.

But above all, and this is most important, studies on identical twins enable us to estimate how much MND is genetically related. We state 10% but that is only because we haven’t found the associations yet.

The twin studies point us at about 65% being genetic!! But these could be unique mutations in many genes.

The message to take away from this is that genetics is simply NOT “There is no disease in my family so I won’t be affected”. This is vital for public awareness and to get more attention for fundraising. A large percentage of the public don’t care because they might see it is as genetic but this is due to a basic understanding of genetics. I don’t expect the public to understand detailed genetics, so I am torn as whether to speak a lot about genetics in awarness.

Finally, MND is NOT rare. It will hit 1 in 300 of all of us. That’s 200,000 of the currently U.K. population will get it in their lifetimes!!

[Lynne K]

Thanks for the information Onein400. Lynne

[Tecwyn]

I hope that you don't mind me chipping in Tecwyn. Worry is normal for a short time. But best to sort it out quickly because it wastes time if anybody dwells upon some unknowable negative thing. Even if you had a 50% chance of getting MND (which I doubt very much) why waste energy and ruin years of future happy times by keeping it at the front of your mind. I think that you are like me and a lot of others in that you like facts, assurity. But gaining some composure and peace while dealing with this horrid disease requires a bit of letting go of what may or may not happen in the future. As you said to Ellie earlier 'what will be, will be.' Very philosophical and true. Ask your questions of your dad's neurologist soon if you can. Get genetic testing if it will help. But whatever you do, live a full and happy life. Don't let MND take that from you. Lynne x

Thank you Lynne, some very wise words and thoughts there, hopefully my dad can learn to stop thinking of the future too much

[Tecwyn]

Thanks onein400, some interesting information. I happen to agree with what you are saying as it makes sense but still I think some reserve needs to be in place when educating the public as any misinterpreted information could lead to a lot of anxiety and worry. Neurologists and specialists are still very much giving patients a sporadic or familial diagnosis and are also from what I am gathering reassuring families that there is no need to worry if it doesn't run in the family.

Many best wishes

[Tecwyn]

Onein400.. You seem very knowledgable in the genetic side of things, please would it be possible to elaborate on the following especially the part about it NOT being dominant/recessive inheritance

Also just because there are no cases in a family (largely due to recall), that doesn’t mean a case is NOT genetic related. Families are quite small these days. It is also important to know that even if you have one of the currently identified gene mutations, it is not 50/50 thar you will get MND. MND is NOT a simple dominant/recessive gene inheritance disease.

Best wishes

[Dan]

I have genetic sod1 MND and have always been told by neurologists that this is a dominant gene ie 50% chance of getting it. I come from a large family...which does distort the figures but I am the 5th sibling to have MND in my family. It is possible to carry the gene without getting the disease. I think my mother was the carrier...she died of a heart attack at 58yrs old. I just thought I would add to the debate. There are so many theories around ......Cheers Dani

[Ellie]

Yes Dani, you're right - most of inherited genes which cause ALS are in an autosomal dominant pattern, and, to a much lesser extent, are in an autosomal recessive pattern.

Ellie x.

[Lynne K]

Gosh Dan. That's the first I've heard of so many siblings to have MND. Not good at all. Lynne

[Dan]

Lyne... I come from a family of 16 children that’s why it’s sounds a lot! Not 50% yet but not far off...Dani

[Lynne K]

Oh I see. Thanks Dani. Lynne

[Onein300]

Even if you have an inherited gene mutation that is associated with MND that does not mean you develop the disease.
For the disease to start we believe that a number of steps have to happen. It varies from gene mutation to mutation. Some sod1 mutations are highly penetrant, ie you are more likely to develop the disease. But it’s still not 100%. But other genes are like 20% even if you have the gene.

Mind you, you might get hit by a car tomorrow or get cancer before!! It’s statistically more likely! If you ride a motorbike, the data shows you are more likely to die from that in your lifetime! Scary!

I would have genetic counselling if you want to pursue further. There are implications.