NHS Has a Rare Mitochondrial Disorders Service

[Arnie Pye]

I'd never heard of this NHS service before and thought it might be of interest :

Rare Mitochondrial Disorders Service

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

 

[josepdelafuente]

Hi!

Was just on this website - https://mitochondrialdisease.nhs.uk/nhs-mitochondrial-services/

I'm pondering if I should try to access this service, somehow.

My first thought on seeing that this service exists was - "oh, how come everyone who presents to their GP with M.E/CFS symptoms, and then has all the usual things ruled out (like so many of us) isn't then referred to this NHS Mito service?"

But that might be a very naive thought...

But I am now wondering if I should try to access this service, through my GP in London.

Anyone on S4ME had any experience with it?

 

[Kitty]

But I am now wondering if I should try to access this service, through my GP in London.

Your doctor would probably only refer if you had symptoms of what looked like a genetic condition that can't be diagnosed any other way. Most GPs probably don't see many of them.

They'd need a good idea what they're looking for, otherwise they'd be hunting a needle at the world haystack championships. A relative went through the process with their child; they ran specific genetic panels after narrowing down the possibilities from other information, but that 'other information' made up most of the diagnostic process. Finding one or more genetic changes only serves as confirmation, and of itself may not be much use unless there's a treatment (often there isn't).