Experiences of genetic testing

[Zante]

That takes a lot of dedication LindaB not to watch it all in one go well done!!!

[LindaB]

No spoilers Zante lol I'm saving it for next week😇🤐

[Zante]

Honestly Zan, you may be better off enjoying yourself and escaping into a boxset.

So many much-heraled 'breakthroughs' in the MND world are damp squibs, that reading this and that can be a waste of time, energy and emotion. When there is a genuine and proven treatment, I guarantee you'll hear about it 📢🔊

Don't feel bad about not being able to sift through hundreds of pages of (what turned out to be) 2 Steps Forward and 1 Step back Scientific Papers 🥴 😘

I think you totally hit the nail on the head there!! I have read pages and pages and came away more confused than I did to begin with ! I did chuckle at I will hear all about it when a cure is found !! Thanks as always. Right.... I feel a "you don't know me " episode is due!! Xx

[Ellie]

I suppose my worry is the impact genetic testing could have on my daughters and grandchildren.

Yes, that is the dilemma, not an easy decision. xx

[Ellie]

I have days when I really want to know and others when I can't face reading anything and get absorbed with iplayer instead!!

Honestly Zan, you may be better off enjoying yourself and escaping into a boxset.

So many much-heraled 'breakthroughs' in the MND world are damp squibs, that reading this and that can be a waste of time, energy and emotion. When there is a genuine and proven treatment, I guarantee you'll hear about it 📢🔊

Don't feel bad about not being able to sift through hundreds of pages of (what turned out to be) 2 Steps Forward and 1 Step back Scientific Papers 🥴 😘

[Ellie]

Regarding precision medicine I think you're saying there isn't any yet but there may be in the future?

Kinda, sorta 😏 The greatest advances right now are being made in the treatment of C9 and SOD1 variants and prevention, in the case of C9.

Yes, in the future, but the future may be just around the corner. xx

[LindaB]

I suppose my worry is the impact genetic testing could have on my daughters and grandchildren.
However as said I know very little....need to rethink...

[Zante]

Linda I do quite a bit of reading about the whole neurological conditions effecting the motor neurons and have learnt a lot. But the science and research and trials I really struggle to understand. I can't seem to get it at all. I thought stem cell treatment and building mitochondria were making progress in USA but can't ever understand how and why its not being implemented. Sorry totally gone off on a tangent with this! But there is a lot of information online. I have days when I really want to know and others when I can't face reading anything and get absorbed with iplayer instead!! Xx

[LindaB]

Ellie thanks for the info...

Regarding precision medicine I think you're saying there isn't any yet but there may be in the future?

I feel I know so little...need to have a read & rethink🤓

[Zante]

Ellie that really makes a lot of sense. X

[Ellie]

When I was 1st diagnosed the consultant mentioned genetic testing however at the time I wasn't sure....still not sure of the benefits?

Potential benefits include:
Precision medicine, arguably the most important reason for knowing your genetic type - for the future really, but next week is the future....
Clinical trial participation for gene-specific trials.
Knowing what you're up against, though whether this constitutes a 'benefit' for some people is debatable.

[Zante]

When I was 1st diagnosed the consultant mentioned genetic testing however at the time I wasn't sure....still not sure of the benefits?

Thanks Linda. This is slightly different cos at the moment I have been diagnosed with pls but there is a condition called hsp which manifests very similar and is difficult to tell the difference but quite often over 50% of hsp patients have a mutated hsp gene of which you need testing. I was hoping it might have been that instead!
I think with the als genetic testing it's personal choice really. if I had been diagnosed with als i don't know if offered what I would do. But I wonder if it meant it might help with research. I don't know.

[LindaB]

When I was 1st diagnosed the consultant mentioned genetic testing however at the time I wasn't sure....still not sure of the benefits?

[Zante]

Erm... i had a walking stick!! Went out early with my dog to try and beat the worst of the weather ( today I wondered why I didn't get a cat!) And my legs are terrible down hill I feel quite unsteady. Big gust of wind and I didn't have the flexibility in legs to put decent footing down and went flying. Sore hip bone and knee cut up but am alright. Just fed up of falling now its making me nervous outside.

with the testing I guess the mnd consultant that my original consultant sent me to would have raised it if he thought it was required and he didn't. Thanks for reply. X

[LindaB]

Zante sorry to hear you've had a fall...really shakes you up...take care🙏