Mitochondria disease

[fossyant]

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]

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]

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]

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]

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]

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]

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]

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]

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.

Honestly, thanks for all that.