Misnomer...

[Cinderella]

It began with 'misnomer'

Yes, now you are getting to know me, there is a theme here - a word comes into my head and off I go.

The context was my thinking about the definition of 'rare disease' over 'very rare disease' as I felt it was a misnomer or 'kop out' to use this as a reason why there are no new treatments available, let alone a cure on the horizon.

There are apparently 6 people diagnosed with mnd every single day in the UK and just like an iceberg there are many more underneath that are still waiting for their diagnosis.
Google tells us that in 2019 there were 268,674 people globally confirmed to have mnd, so would it be reasonable to increase this by 50% going on our own experiences as to how long it takes to get a diagnosis? That's a lot of people and families.

So, if there are 6 x 365 newly diagnosed people annually in the UK which is 2,190 and the average life prediction is from 3 - 10 years, this has to equate to more than the stated 5,000 in any one year? I just sense it's being down played, but call me a cynic.
(NICE estimate there are about 5,000 people and only 1,100 diagnosed annually - note they can only estimate, they don't have actual figures - which says a lot).

My continued search came across a very interesting read, here it is in all it's glory:

https://www.gov.uk/government/publications/uk-rare-diseases-framework/the-uk-rare-diseases-framework

Yes, it is lengthy as all .gov material is and I admit even I started skim reading towards the end, but if you have the time then these are my thoughts on reading it:

Priority 1 - Well they pretty much failed me here as they do so many of us

Priority 2 - In my case, after nearly 6 years not even the neurosurgeons or neurologists were able to provide a diagnosis (I had to nearly die first) - and they are meant to be the specialists so the GP didn't stand a chance...at no point have I ever been offered genomic testing and more to the point, still haven't.

Priority 3 - Since my diagnosis I have been pretty well cared for - yes, I have my gripes as don't feel it was at all appropriate for two nurses to turn up by my hospital bedside the following day after finding out - to extol the virtues of voice banking...what! I'm going to lose my voice??? But as we can read on this forum, for some it is an awful uphill struggle to get any help or appropriate care and that shouldn't be down to postcode.

Priority 4 - there isn't enough space here to put what I think about access to drugs - we are definitely all cinderellas in that respect - there are things out there that we could be allowed to access which don't cost a fortune, and have proven benefits - but it's no, no, no. (On the premise that it might do us harm, well, we had all better stop taking paracetamol then, as they admit they still don't know how this works but do know it can affect the liver).

If you can find the energy to keep reading or skip to the purple graph - how telling that those living with a rare disease were the most keen to get their views heard!

I don't know about you, but this disease makes me feel so powerless - I've signed up to everything but still waiting to be contacted....

[Arcadian]

Sadly I feel at present, by the time we have visible symptoms, there isn't a realistic current timeframe opportunity for a cure development or even much scope for 'stabilisation' treatment in the immediate future, due to the scale of motor neurone failure in the patient at that point.
(I appreciate and respect other folks forum posts asking how research programmes are focused and where does funding go)?

I'm involved in two research studies which are mainly patient engagement recording with the diagnostic process and med professionals,they don't involve testing or trial drugs.
For various reasons, I feel these are positive and productive areas of research - not immediately so for folk presently on a diagnostic pathway, but for a future revision of medical professional analysis and engagement in the near future.
If subtle signs can be recognised sooner for new patients of concern, patterns of symptoms recognised sooner and testing techniques / screening focused on early mechanisms of disease progression, that may be a 'way in' for additional means of moderating symptoms progression as well as maybe suppressing progression once various multiple mechanisms are identified at the earliest stages before extensive damage occurs.

[denise]

It's nice to have someone put it into words.

[Ellie]

Cinderella Maybe this will help you make sense of the figures.

... the average life prediction is from 3 - 10 years ...

This is substantially off for average survival: even for people diagnosed with ALS in 2022, it is expected that only about 50% will survive for 3 years, 20% for 5 years and 10% for 10 years - ALS has the sad nickname of the 1000 day disease...

... if there are 6 x 365 newly diagnosed people annually in the UK which is 2,190 and
(NICE estimate there are about 5,000 people and only 1,100 diagnosed annually ...

Yes, the guesstimate of 5000 is likely inaccurate and dated. Northern Europe has similar rates of ALS: Ireland has a National MND Register, in which every case is mnadatorily recorded, so if you were to apply the same rates to the UK as are seen in Ireland, the UK would have about 6,500 people living with ALS at any one time.

Your figure of 2,190 is closer to the truth than the 1,100 often quoted: again, if using the rate seen in Ireland, the UK figure would be ~2,000.

[Arcadian]

Year 2000 general international ALS / MND figs:-

incidence - the occurrence, rate, or frequency of a disease, crime, or other undesirable thing
2/100,000


Prevalence - the fact or condition of being prevalent; commonness
6/100,000

[Ellie]

And both the incidence and prevalence are increasing, mostly due to an ageing population. 😟 xx

[Banned]

1 in 300 are said to get the disease. 27 million.

The disease is at the molecular level and genetic repair is necessary.

Care is expensive and beyond many.

[fjay]

And both the incidence and prevalence are increasing, mostly due to an ageing population. 😟 xx

Yes - and late onset MND may be more common than is recognised. It may go undiagnosed in older people who have other health problems. E.g. if an elderly person starts falling and having mobility problems, clinicians won't have MND at the top of their list of possible explanations.

[Cinderella]

Hi fjay

I think that is what has happened to my aunt, she was diagnosed with Parkinsons years ago, but it has not progressed as expected, a few years ago they changed the diagnosis to pseudo Parkinsons and recently they have declared it is not Parkinsons. She is 92 so they are not looking that hard to find an alternative reason for her symptoms. Now that I have been diagnosed, my sister, who sees her regularly, says we have much in common.

Should I raise this with her or leave well alone - what can be gained here for her?

But it does raise the chance of there being a familial faulty gene and I will mention this to the nurse.

[shelly21]

fjay how coincidental. At a recent appointment with my neuro we were talking re figures of people being diagnosed and he said exactly the same as you. That more elderly people may have but other age related issues and disorders mask it.

Cinderella I go to my local hospice there is a man there who was diagnosed with parkinsonism. Then 12 months later they said it wasn't parkinsonism but a very rare disease (i cannot recall the name sorry).

[Madge]

My mum has been diagnosed with Lewy body dementia (Parkinson’s) and I do wonder if there is a connection with us. Her consultant knows of my condition.