#mitochondrial disease

[smoov-criminal]

happy disability pride month to those with conditions no one talks about, online or in general:

multiple sclerosis (me lol)

marfans

cerebral palsy

bells palsy

hidradenitis suppurativa

cauda equina syndrome

mixed connective tissue disorder

hyperadrenergic pots

non hypermobile eds types

stickler syndrome

mitochondrial disease

cystic fibrosis

sickle cell disease

myasthenia gravis

post-cholecystectomy syndrome

SWAN (syndromes without a name)

...just to name a few. i see you and you deserve awareness and understanding.

this list is non exhaustive, rb with other conditions you want to see represented!!

[ID: a post banner with dark red background and medium grey bolded text in the center. it reads “This post is about physical disabilities, do not derail.” On each side there is the dynamic disability icon, a gray symbol of person in manual wheelchair leaning forward with arms bent behind them mid-push. /end ID]

[stagegoose]

shout out to those of us chronically ill people who have stacks of rare diagnoses that took years or decades to dx. Shout out. to those of us in those categories who had earlier diagnoses questioned because of our other, at this point undiagnosed, rare illnesses.

To have a doctor look at something very concrete and telling of a certain diagnosis (for me, it was a muscle biopsy that showed a very obvious mitochondrial cytopathy) and go 'nah i don't think its actually this thing we have evidence of' because you also have another completely unrelated rare illness is gross and inexcusable.

If you are in this situation, i pray that things prevail for you. Remember that you know your body far better than any medical professional ever will, and that no matter what they say, you're not crazy for having inexplicable symptoms.

to deny the idea that someone can be doubly sick with three or more different rare illnesses when we know so little about genetics and all the different ways the human body can screw itself over is extremely and without a doubt idiotic. we all deserve better.

[tesseractlover]

Forget being chronically online,

I’m chronically ill 👍

[briarpatch-kids]

This is one of things people don't really consider with truly rare disease. You have a hard time accessing even well accepted treatments because "oh there's no studies on it" there's no studies on anything bestie. We don't even know how long I'll hypothetically live or how bad things will get.

[whumpfish]

Thinking about a whumpee with chronic pain, especially nerve damage. Maybe it's something the whumper did, maybe they're missing a limb or teeth and the empty space hurts. Maybe it it's that, but it was environmental. Maybe they have mitochondrial damage or lyme disease. Maybe it's a pain disorder like MPD, fibromyalgia, or ME/CFS.

They feel persistent, significant pain in a place that in no way connects to a visible injury or body part, so people dismiss them, thinking they're making it up, that they just want attention or drugs. They keep telling whumpee that it's all in their head and will go away if they exercise/eat more or differently/other thing that does absolutely nothing for nerve pain (or even makes nerve pain worse). Maybe even Caretaker doesn't believe them...

[ksk-shadowfox-den]

View this post on Instagram

A post shared by Kimberley S Klein (@ksk_shadowfox_den)

A poem that I pulled out of thin air after getting sick one evening. I’ve always been fascinated by the bones in my hands, even more so now that they are numb from peripheral neuropathy caused by POLY-G.

[bookwormonastring]

I don’t tend to post about this, because it’s not the kind of thing that just casually comes up in conversation, and it’s a bit of a depressing topic, but I can’t say nothing today. if you don’t want to read it all that’s okay, but please read the last paragraph.

today would have been the 21st birthday of one of my primary school friends. unfortunately, that friend only made it a few months past 17, when the mitochondrial disease she’d been diagnosed with when we were in year 5 finally won, so instead we’re celebrating her memory today.

I think about her a lot. every time I go on a walk and save a worm from being squished by picking it up and moving it from the middle of the pavement (she made me brave enough to do that for the first time when we were 6 or 7, when it had grossed me out too much before) and every time I come out of my Catalan class (the building is directly opposite the hospital she was in when she passed) and every time I notice my hair looking particularly red (I remember her saying we looked like sisters because of it when we were walking to school together one time, even though hers generally looked much redder than mine) and plenty of times in between. and if I’m being honest I’ve never quite got over the guilt stage of grieving her, but there is at least one way I can still feel like I’m making it up to her.

the lily foundation is a wonderful charity that did so much for my friend while she was still with us, and their research is so important to make other children’s and young adults’ lives better while they’re living with this disease - and perhaps even find a cure for it someday. I don’t think I would even know about mitochondrial disease if my friend hadn’t been diagnosed with it, so if you also don’t, please read the information about it (or, rather, them) on the lily foundation’s website. if you can donate, that’s fantastic and I would urge you to, but even raising awareness is good.

[arickfan-blog1]

Mitochondrial Marvels: Unraveling the Three-Parent Baby Breakthrough

[leighnetwork]

Thank you so much to A Brush with Comedy for supporting Leigh Network. Online auction open now for amazing pieces of art https://www.charityauctionstoday.com/auctions/a-brush-with-comedy-32258

[narwhalsarefalling]

my niece is learning asl (for medical reasons she is unable to speak) and she only knows a few signs, but my FAVORITE sentence is when she’s irritated at someone and makes the sign for “you” and “full (indicating a full diaper).” i know she’s associating the feel of being grumpy and having a full diaper with the way someone acts- but i LOVE the implications she thinks someone is full of shit.

[devilbrakers]

Neurologist appointment went well 🤩

[clarabow-mp3]

seriously what is it with parents hiding medical information from their kids that's so fucked up

[ruthfeiertag]

https://www.washingtonpost.com/health/2023/09/17/fatigue-cfs-longcovid-mitochondria/

Here’s an article about Amanda Twinam’s search for answers to her problems with fatigue, a search that someday may lead to a fuller understanding of ME/CFS, similar diseases, and to treatments. For many of us, these ameliorations or cures will come too late for us to recover our health or for us to recover any semblance of the lives we should have had, but perhaps it will give all the young(er) people with ME, Long-Covid, etc., hope.

[briarpatch-kids]

I know of like two (living) bloggers with the same disease as me and we don't have a lot in common other than being sick and it really sucks sometimes. I literally know of more dead bloggers than living ones with mito and it's like trying to make friends in a graveyard. Is the kind hearted person you waved back at even still there, or is just another online echo from someone long gone? Does it even matter? The echoes are somehow less lonely than pretending the graveyard isn't there.

[bpod-bpod]

Organelle Transplant

Just as the human body can be divided up into organs, our cells have their own ‘small organs’ called organelles. And just as replacing a faulty organ with a transplant can add years to a patient’s life, the hope is that one day we may be able to do something similar by transplanting organelles. Patients with inherited diseases of mitochondria – organelles that generate the cell’s energy – would particularly benefit. This may sound much like science fiction, but researchers believe they've now reached a point where it's technically feasible. The team developed and successfully used a nanosyringe to transplant mitochondria from one living cell into another. Not only do both the donor and recipient cells survive the process, but the transplanted mitochondria merge with those in the recipient cell to form one functional network. This video shows the transplanted mitochondria (red) fusing with the existing network in the recipient cell (cyan).

Written by Sophie Arthur

Video from work by Christoph G. Gäbelein and colleagues

Institute of Microbiology, ETH Zurich, Zurich, Switzerland

Video originally published with a Creative Commons Attribution 4.0 International (CC BY 4.0)

Published in PLOS Biology, March 2022

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