# Mitochondria disease



## MartinQ (11 May 2020)

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 (11 May 2020)

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.


----------



## MartinQ (11 May 2020)

winjim said:


> 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 (11 May 2020)

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.


----------



## MartinQ (11 May 2020)

winjim said:


> 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 (12 May 2020)

Did someone diagnose this through a telephone conversation?


----------



## MartinQ (12 May 2020)

steveindenmark said:


> Did someone diagnose this through a telephone conversation?



Not quite, they used a zodiac man chart and some urine.
It isn't the dark ages you know.


----------



## steveindenmark (12 May 2020)

MartinQ said:


> 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 (12 May 2020)

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.


----------



## MartinQ (12 May 2020)

steveindenmark said:


> "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.



The call was about the result of the rests, obviously not the tests themselves.


----------



## MartinQ (12 May 2020)

PaulSB said:


> 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 (12 May 2020)

MartinQ said:


> 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.


----------



## MartinQ (12 May 2020)

PaulSB said:


> 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 (12 May 2020)

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


----------



## winjim (12 May 2020)

MartinQ said:


> 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.


----------



## fossyant (12 May 2020)

Have a look at the Lily foundation, it's a bit 'pink and childish' but it's something that affects children as well, this foundation was set up be parents.


----------



## MartinQ (12 May 2020)

winjim said:


> 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.



You've put it more clearly than I could. Im aware that there are several different tyoes and the guy I spoke to wasn't the specialist. A bit of knowledge is useful though ... taken with a large pinch of salt.


----------



## MartinQ (12 May 2020)

fossyant said:


> Have a look at the Lily foundation, it's a bit 'pink and childish' but it's something that affects children as well, this foundation was set up be parents.



The one @winjim pointed at is actually just round the corner from me. I saw they had a link to the Lily one on there. Need some time for some reading,


----------



## winjim (12 May 2020)

MartinQ said:


> The one @winjim pointed at is actually just round the corner from me. I saw they had a link to the Lily one on there. Need some time for some reading,


You'll find that a lot of the metabolic support groups are aimed at parents of affected children since these diseases tend to present in infancy, but they're still worth looking at. Mitochondrial diseases can present at any age.


----------



## MartinQ (12 May 2020)

winjim said:


> You'll find that a lot of the metabolic support groups are aimed at parents of affected children since these diseases tend to present in infancy, but they're still worth looking at. Mitochondrial diseases can present at any age.



Yeah the guy was asking a bit about my childhood and family.


----------



## winjim (12 May 2020)

MartinQ said:


> Yeah the guy was asking a bit about my childhood and family.


It's an inherited condition so you might find they want to investigate other members of your family, kids especially if you have any, or refer you for genetic counselling for any children you may have in the future.


----------



## MartinQ (12 May 2020)

winjim said:


> It's an inherited condition so you might find they want to investigate other members of your family, kids especially if you have any, or refer you for genetic counselling for any children you may have in the future.



Yeah, Id sussed that out. Parents are gone, but I half mentioned it to the kids at the weekend. Still, early days.


----------



## winjim (12 May 2020)

I've had a look round work and with us not being mitochondrial specialists, I'm afraid there's not much patient information about. But the Newcastle centre looks to have some good websites with lots of information and links to read.

mitochondrialdisease.nhs.uk/patient-area/what-mitochondrial-disease

newcastle-mitochondria.com/patient-and-public-home-page

Could also try the United Mitochondrial Disease Foundation at

umdf.org

If you see any references or links to CLIMB, I think the website is defunct, it was the old name for Metabolic Support UK.

I think that should be enough reading material for now, you'll probably know more than I do pretty shortly. If there's anything that looks a bit odd, or if you want to check whether it's a good source or whatever then do ask, but I expect once your referral goes through you'll have a good clinical team behind you.


----------



## MartinQ (12 May 2020)

winjim said:


> I've had a look round work and with us not being mitochondrial specialists, I'm afraid there's not much patient information about. But the Newcastle centre looks to have some good websites with lots of information and links to read.
> 
> mitochondrialdisease.nhs.uk/patient-area/what-mitochondrial-disease
> 
> ...



Honestly, thanks for all that.


----------

