Do you carry an ALS-related gene? We need your input!

[paulwicks]

Hi friends,

The I AM ALS Familial ALS Community Team is seeking your feedback in an anonymous survey to collect information on the pre-symptomatic ALS/FTD community’s interest in accessing and taking ALS treatments.

The survey is intended to inform pharmaceutical companies, government agencies and other stakeholders on the presymptomatic ALS community’s interest in accessing ALS treatments. Please consider sharing this survey with your family members and other presymptomatic community members.

Click here to take the survey, ideally before next Friday October 21st 2022 to make your voice count!

Thank you!

Paul Wicks, on behalf of the I Am ALS Familial ALS Community Team

[Christopher]

paulwicks

As far as I am aware we do not have a national screening program in the UK and therefore the question of pre symptomatic surveys for people in the UK would be a mute one?

As many of us know getting a diagnosis can take almost ten years.

Yes it would be lovely to have been screened and therefore told that all the issues one has been having for years were due to ALS and therefore different life decisions could have been made.

All the best with your survey.

[Ellie]

The survey is intended to inform pharmaceutical companies, government agencies and other stakeholders on the presymptomatic ALS community’s interest in accessing ALS treatments.

If people complete the survey, will their data be sold to any or all stakeholders?

Thanks.

[Cinderella]

I would love to make my voice count - but in order to do so, the neurologist would have to stop ignoring my request for genetic testing...

[Christopher]

It is interesting that "I Am ALS" is an organisation with an income of 2,547,735 USD from "contributions and grants".

Its Chief Executive is paid 252,866 USD.

It gives out grants of 10,000 USD.

[Cinderella]

My point is that until someone in the family gets tested, how will we know? My 3 children and my 5 siblings want to know!

My aunt (who has no children) was diagnosed with Parkinsons but years have passed and it has not followed the progression of Parkinsons, so they have overturned the diagnosis. Because she is now nearly 93 they are not bothered to find out what the cause is and is now bedridden - but my sister who looked after her through covid said my physical symptoms are the same and although I have not been able to visit her in years, I say the same things she does about how I am feeling or deal with things - coats can be too heavy etc.
My grandmother, her mother - was orphaned at 6 and put in the workhouse so lost all contact with relatives. Years later she researched and found her grandfather died in his 40s putting in his will that 'he was strong of mind, but weak of body' - which is pretty much how to describe mnd had they known it existed then. She suffered with what was then termed 'nerves' and took valium for years which as we know is to stop muscle spasms. My father died in his 40s when I was 13, so it cannot be determined whether he carried a faulty gene or not. I don't even want to begin on my mother's side as I think the above is enough to warrant a test.

[Christopher]

Cinderella yes it would be lovely wouldn't it for one of the most serious conditions out there for there to be some sort of screening.

What do they say. Most GPs will only see one case in their career?

Being a sceptic as I am with most medical things the one has to look at the economics.

We are not all that costly to the system as our lifespans are short and there are not many of us.

The input I am receiving now though from the relevant local services is amazing.

[denise]

Christopher there might well be more but they don't get diagnosed. A lot of elderly people might well just be regarded as just suffering old age.

[Christopher]

denise

I agree with you there. I had been thinking of the number of times in the last nine years that I have been admitted to hospital due to falls.

Even not being allowed to get out of bed at hospital on two occasions for a week at a go each time, as I would fall when out.

On those occasions I was not seen by a neurologist.

Yes as you say. As people age they are "expected" to get weaker.