Author Topic: Rare Diseases Day 28 Feb  (Read 519 times)

ditchdwellers

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Re: Rare Diseases Day 28 Feb
« Reply #15 on: 28 Feb 2021 03:05PM »
So far, my list of ridiculous and bizarre conditions are:

  • Ehlers Danlos Syndrome Hypermobility type - rare
  • Gastroparesis- not rare
  • Dysautonomia- not rare 
  • Osteoarthritis  - not rare 
  • Diabetes Insipidus- rare
  • Idiopathic Intracranial Hypertension  - rare
  • Cluster headaches- rare
  • Occular migraines- not rare
  • Psoriatic Arthritis - rare  
  • Central Sleep Apnoea- rare
  • Idiopathic hypersomnia  - rare

I'm undergoing investigations with a gastro consultant at the moment, but he's as much use as a chocolate teapot so I've asked my GP to refer me for a second opinion. So I may have something new to add to the list soon! 

It makes life interesting. I went out for an MRI yesterday and I've got a blood test on Tuesday so nobody can say I'm not getting out  :f_laugh:

oldtone27

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Re: Rare Diseases Day 28 Feb
« Reply #16 on: 28 Feb 2021 03:12PM »
Hi, its a bit too soon after my dinner for more bites so the Kenco and scones will have to wait till tea time. Actual I've got some hot cross buns.

I was diagnosed with EDS as a child although I don't think they called it that then. I had a subsequent diagnosis by a rheumatologist (Dr Beighton) researching it when I was a teenager. This was by coincidence because he was on duty when I went to A&E over something else. I don't think many doctors were familiar with it then.

As far diagnostic algorithms are concerned I was working with someone who was involved with a very early version for use on a prototype pen tablet pre-dating the I-pad. However  amount of data and knowledge  involved was proving difficult to accommodate under the technology of the day.

Still is a problem if data is to be assembled by experts. AI is probably the way to go as it can gather vast quantities very quickly. Its problem is that it is very difficult to interrogate to understand how it reached any particular conclusion. Hence it has a tremendous testing burden to gain confidence.

Sunshine Meadows

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Re: Rare Diseases Day 28 Feb
« Reply #17 on: 28 Feb 2021 03:19PM »
All of that such a lot to have to deal with what would the interactions and medication interactions and everything. I don't think I have anything rare so I think things are pretty straightforward for me. In order for me to get benefits it did take me accepting the vertigo on my ability to walk and move around.

It's such a lovely day the sun is still shining and it's good to be able to enjoy it thank you.

Good point I had not thought about how people the program the algorithms need to know how the devices the AI make the diagnosis that they do to understand how to limit the amount of misdiagnosis. That is also of course the fact that the AI will be done diagnosing human beings which are not programmable we each ownn history and way of being I do think sometimes doctors and nurses get a sense of who you are and what needs doing in the air.
« Last Edit: 28 Feb 2021 03:21PM by Sunshine Meadows »

ditchdwellers

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Re: Rare Diseases Day 28 Feb
« Reply #18 on: 28 Feb 2021 03:36PM »
That's really interesting to hear about things from a different perspective, Oldtone. 

One of my concerns is that AI won't be able to tease out the nuances that an experienced consultant could. I have often found that symptoms that I have dismissed as 'normal' are in fact all pointers to diagnosis. Particularly if something has crept up on you slowly or you have always had it/runs in the family. It is your normal and you could easily not identify it as a symptom. 

It is the probing questions asked by the doctors that get the answers. I'm sure AI will be an aid however it can't replace the knowledge and experience of a good doctor.

ditchdwellers

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Re: Rare Diseases Day 28 Feb
« Reply #19 on: 28 Feb 2021 04:30PM »
Well I'm afraid I'm checking out for the afternoon, but there's plenty of cake left.

There's plenty of Colin left. I ordered a large one (replacements available at your nearest M&S food hall)

If you require more tea or hot water, whistle loudly as Mr DD is currently still on the shed roof. But he will attend to your every need. 

Thank you for coming and discussing the diagnosis of different disorders, and the future potentials. We certainly live in interesting and fast moving times. 
I look to the future with hope. I hope you all can too. :f_hug:

Sunshine Meadows

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Re: Rare Diseases Day 28 Feb
« Reply #20 on: 01 Mar 2021 01:56PM »
It was fun  :coffee: and informative just not sure my voice to text software is as accurate as it should me.

Mmm leftover cake  :cake:


Quote
We certainly live in interesting and fast moving times. 

I look to the future with hope. I hope you all can too. :f_hug: title=f_hug
:f_hug:

KizzyKazaer

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Re: Rare Diseases Day 28 Feb
« Reply #21 on: 03 Mar 2021 05:55PM »
Ooh, have I just missed a party? *looks around hungrily at left-overs*

I'll just help myself to a cuppa from the chocolate teapot :f_laugh:

Hope you get some answers, DD, some of those rare diseases are certainly new to me!

lankou

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Re: Rare Diseases Day 28 Feb
« Reply #22 on: 03 Mar 2021 05:59PM »
So far, my list of ridiculous and bizarre conditions are:

  • Ehlers Danlos Syndrome Hypermobility type - rare
  • Gastroparesis- not rare
  • Dysautonomia- not rare
  • Osteoarthritis  - not rare
  • Diabetes Insipidus- rare
  • Idiopathic Intracranial Hypertension  - rare
  • Cluster headaches- rare
  • Occular migraines- not rare
  • Psoriatic Arthritis - rare 
  • Central Sleep Apnoea- rare
  • Idiopathic hypersomnia  - rare

If you were a building you would be comdemned.

ditchdwellers

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Re: Rare Diseases Day 28 Feb
« Reply #23 on: 03 Mar 2021 07:49PM »
Kizzy - most of the doctors haven't heard of the my conditions either! 
Iankou -  :f_laugh: the cracks are definitely showing!

Fiz

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Re: Rare Diseases Day 28 Feb
« Reply #24 on: 05 Mar 2021 02:57PM »
Oh blast I missed the party.

Lots of people with adrenal insufficiency were celebrating rate disease day but although there are only 8000 people with Addison's, which is the main primary adrenal insufficiency disease, adding together the people with secondary adrenal insufficiency there are 40000 in the UK and that doesn't sound that rare to me so decided not to celebrate it for me!