Mitochondria disease

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Bit of an odd one, but is there anyone on here who knows much about it? After a long time, I was told that I suffer from it. Because of the lockdown, it was a "brief" telephone conversation and tbh, I wasn't really sure what to ask. So if anyone knows anything and is happy for a general chat, Id appreciate it.
 

winjim

Smash the cistern
I work in that field although our lab doesn't specialise in mitochondrial disease. I know enough about it to know that I don't know enough about it, if you know what I mean. So I'm happy to look stuff up for you at work or there are probably some organisations I can recommend you to get in touch with.
 
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MartinQ

Guru
I work in that field although our lab doesn't specialise in mitochondrial disease. I know enough about it to know that I don't know enough about it, if you know what I mean. So I'm happy to look stuff up for you at work or there are probably some organisations I can recommend you to get in touch with.

Thanks and realise Im not going to get "proper" medical advice on the web. However, any info/groups would be useful and any pointers / advice.
 

winjim

Smash the cistern
Best place to start would be Metabolic Support UK, who are a support group for patients and families with all types of metabolic diseases. I'll have a look at work tomorrow and see if I can look up anything more mitochondrial specific. I take it you're under a specialist team? They should have information on organisations such as this.

https://www.metabolicsupportuk.org/


Do feel free to DM me, although I am just a random bod on the internet and there's obviously only a limited amount firstly that I can say, and secondly that you should accept, without it coming from your own medical team.
 
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MartinQ

Guru
Best place to start would be Metabolic Support UK, who are a support group for patients and families with all types of metabolic diseases. I'll have a look at work tomorrow and see if I can look up anything more mitochondrial specific. I take it you're under a specialist team? They should have information on organisations such as this.

https://www.metabolicsupportuk.org/

Do feel free to DM me, although I am just a random bod on the internet and there's obviously only a limited amount firstly that I can say, and secondly that you should accept, without it coming from your own medical team.

The guy mentioned something about Newcastle, but Im not sure exactly what. If you wouldn't mind having a quick rummage tomorrow Id appreciate it and will checkout that site now. Thanks again.
 

steveindenmark

Legendary Member
Not quite, they used a zodiac man chark and some urine.
It isn't the dark ages you know.
"it was a "brief" telephone conversation "

You didnt make it very clear and it is a complicated disease to diagnose on the phone. That is why I asked.
 

PaulSB

Legendary Member
I know nothing of this disease so Googled it. My impression is you should have been given a thorough explanation. In your position I would immediately request a second consultation and begin some research for yourself.

Make a list of questions and concerns and make sure you get each of these answered. There may be a support organisation you can call for further detail.

I fully appreciate a telephone consultation is far from ideal but it's the best you'll get a present.
 
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MartinQ

Guru
I know nothing of this disease so Googled it. My impression is you should have been given a thorough explanation. In your position I would immediately request a second consultation and begin some research for yourself.

Make a list of questions and concerns and make sure you get each of these answered. There may be a support organisation you can call for further detail.

I fully appreciate a telephone consultation is far from ideal but it's the best you'll get a present.

Sure. Im not criticising the call, its how it is at the moment. The guy was friendly/helpful etc, but I wasn't really expecting it so didn't take much in/ask sensible questions.

I was just after any advice/pointers/... basically what @winjim did ^_^.
 

PaulSB

Legendary Member
Sure. Im not criticising the call, its how it is at the moment. The guy was friendly/helpful etc, but I wasn't really expecting it so didn't take much in/ask sensible questions.

I was just after any advice/pointers/... basically what @winjim did ^_^.


I had guessed this was the case hence my remark. I've been in a face to face consultation and received unexpected to news. My wife was with me, a retired medical professional, and she says I zoned out and took nothing in. The next time I was prepared and had my questions ready. You may find this helps, perhaps not, but I wanted to offer a little help as I understand it can be difficult.
 
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MartinQ

Guru
I had guessed this was the case hence my remark. I've been in a face to face consultation and received unexpected to news. My wife was with me, a retired medical professional, and she says I zoned out and took nothing in. The next time I was prepared and had my questions ready. You may find this helps, perhaps not, but I wanted to offer a little help as I understand it can be difficult.

I appreciated your response and know, from experience, that face to face isn't always 100%. Thanks.
 

vickster

Legendary Member
Arrange a follow up call with the doctor :okay: Prep questions in advance
Are you being referred to a specialist if required?
 

winjim

Smash the cistern
Sure. Im not criticising the call, its how it is at the moment. The guy was friendly/helpful etc, but I wasn't really expecting it so didn't take much in/ask sensible questions.

I was just after any advice/pointers/... basically what @winjim did ^_^.
Bear in mind that part of the reason that the call may have been brief and lacking in detail was that the person talking to you is unfamiliar with the disorder. These are rare and complex conditions that really do require referral to a highly specialist centre such as the one at Newcastle. In fact the diagnosis will likely have been made at a specialist centre and not at your local hospital, even specialist neurology teams lack the skills and experience to make such a diagnosis. I would hope that now you have a diagnosis that the referral should go through pretty quickly, they will want to get any confirmatory testing done and get you under the care of the clinical team ASAP.

That said, if you have any questions or need clarification I would in the first instance still get in touch with whichever consultant it was who was dealing with your case. They should be in contact with the team at Newcastle and hopefully will be able to deal with any immediate concerns.

Caveat: please treat everything in this post as speculative and general. I don't know details of the op's case and I don't know the team at Newcastle or how they deal with referrals.
 
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