Jump to content

Anyone Have A Mitochondrial Disease?


ellepee
 Share

Recommended Posts

Thanks for the responses from my last post about the drug Lyrica.

I have gotten back the results of my small nerve fiber biopsy and it was normal. Now they want to do a muscle biopsy and test for a Mitochondrial Disease. Has anyone been diagnosed with one? If so, how does it affect you?

Link to comment
Share on other sites

The only other person active on this forum with suspected mito disease is our Sunfish, however she is very under the weather right now and may not be able to reply anytime soon...

I do not want to speak for her in terms of how it has affected her! :unsure: I might mess it up!

Sorry I am not of more help...

Emily

Link to comment
Share on other sites

Elle,

I thought a little more about your question...and was thinking (if my memory serves me correctly, which is always questionable! hahaha!) that even thouhg others have not necessarily been diagnosed with mito disease, the topic has come up quite often, so perhaps a search would be of some value to you?

Do you know how to use the search function? Try typing in Mito or Mitochondrial and see what you get.

Hope this helps a teeny bit....

Emily

Link to comment
Share on other sites

  • 4 weeks later...

hi elle -

so sorry that i'm just now replying to the post. em was right that i really couldn't initially and then when it wasn't on the first page of the forum i'll be honest that it slipped my mind. for some reason though i remembered it and went searching...so here i am :)

i have a suspected/probable diagnosis of mitochondrial disease based on various bloodwork, urine tests, clinical picture, response to medication, etc. it was first brought up this spring after i've had several years of fairly rapid progression in symptoms/dysfunction throughout multiple body systems. the reason the diagnosis isn't for certain is that i haven't had a muscle biopsy, but the reality is that we may choose that it's not worth it to proceed with one b/c it can still leave the question unanswered (a positive biopsy confirms but a negative biopsy doesn't rule out) and knowing for certain wouldn't change anything in terms of treatment.

mitochondrial disease is a VAST array of disorders that affect individuals very differently from type to type & person to person. when the possible diagnosis was first brought up, i was almost excited at first (not knowing anything about mito) in hopes that it might have more answers, treatment options, etc. soon i found out that it's a field with just as many unknowns...if not more...than dysautonomia. a phrase i've used before in regard to the probable diagnosis is that it's sort of like jumping from the frying pan into the fire. ah well.

a good website with lots of info is www.umdf.org (mito disease foundation). you'll likely find that a LOT of the info - both there & elsewhere - tends to be kid-focused as many with mito are children/adolescents. adult-onset mito disease is the most uncharted territory in the field but there is still good info on the site, even if it leaves more questions than answers. prognosis for mito is generally a progressive course but it can vary a lot in terms of how that plays out.

in terms of how it has affected me, it's hard to know what is autonomic failure/neuropathy, what is possibly the mito disease, &/or if it's all one thing intertwined. either scenario is possible and depending on which of my docs you talk to the answer for which is most likely is different. many of the symptoms overlap quite a bit so could be either. the thing that i can most easily say is probably the mito though is my cognitive difficulties as things improved greatly after about a month after i was started on some of the mito meds. i don't know how to describe it exactly but it was different than the cognitive problems aka "brain fog" i've had when most symptomatic (or when upright, even sitting) for years. i couldn't read or write at all without extreme difficulty but now can, which is WONDERFUL. that's not to say there are times when i can't, but i couldn't read more than a paragraph or two at a time for several months this year so to be able to read a book feels like such a treat now.

in terms of other symptoms i have horrible fatigue 24/7 (can't remember the last time i really felt rested), sleep about 12-14 hours a day (most at night and an additional 1-2 hour nap most afternoons), can't stand or walk more than a few minutes, use my wheelchair for just about anything out of the house (which is usually about twice a week including doctor appts), am on IV nutrition/hydration due to GI dysfunction, cath myself as my bladder can't empty on its own, use a CPAP when asleep due to sleep apnea, don't sweat anywhere other than my trunk, have diminished sensation in my feet/lower legs, etc. i'm sure i'm leaving something out but that's plenty to give you an idea.

hope this helps...

:wub: melissa

Link to comment
Share on other sites

Thanks for the reply! I was told that this is just a shot in the dark, but I'm going to go ahead with the muscle biopsy I have scheduled this Thursday. After that I think I'm going to participate in some more research for orthostatic intolerance so hopefully between all of this something good will come...

Link to comment
Share on other sites

good luck with the biopsy. where are you having it done and/or what lab is it being sent to (there are only a few in the country that do the testing)? have you had the other lab work done already?

just curious...

:unsure: melissa

Link to comment
Share on other sites

I don't know what lab it is being sent to, but I'm having the biopsy done at Beth Israel Hospital in Boston. They decided to do this muscle biopsy after a small nerve fiber biopsy I had came back negative. I don't think any of my other lab work has really pointed to a mito disease but I guess I'll see what happens....

Not really looking forward to the muscle biopsy but hopefully it will tell them something about what is going on with me..

Link to comment
Share on other sites

Join the conversation

You can post now and register later. If you have an account, sign in now to post with your account.

Guest
Reply to this topic...

×   Pasted as rich text.   Paste as plain text instead

  Only 75 emoji are allowed.

×   Your link has been automatically embedded.   Display as a link instead

×   Your previous content has been restored.   Clear editor

×   You cannot paste images directly. Upload or insert images from URL.

 Share

×
×
  • Create New...