Hooray - finally a diagnosis

[bearsmum]

After years and years of limbo land and talks of MS but never getting the confirmed diagnosis, a  new specialist I saw started to think that I had Mitochondrial Cytopathy.  Well, after oodles of blood tests, it is confirmed that he is correct.  I am now to have a muscle biopsy done to confirm which version of it I have.
While I am definately not happy about having this, I, now at least have an answer to my many years of problems and thinking that I was going around the bend.
I do realise that I am going to have a lot more years of having a rough time but now that I am diagnosed, I can request professional help in all the therapies that are available.
As I live 65km's from our next major town. the DT has said that she can call into my home and give me treatment on her way through when she goes to the next town to see her patients there, all under my pension.  Isn't she just wonderful, I couldn't believe my luck.  Everyone has just been so wonderful to me, and I feel that I don't deserve all this attention, but I certainly do appreciate it.
I will let you all know what the results of my muscle biopsy are.
Take care to all my dear friends
bearsmum

[biowham]

Wow. It must be a relief to have a name to call it and to know that there are some interventions. Thank goodness you had that smart specialist who figured this out. I hope this turn of luck sticks with you. And you do deserve the attention. We all do, when we need it.

Bio

[essdipity]

Hi, Bearsmum. I know you must have explained this earlier, but could you give us a brief rundown on what Mitochondrial Cytopathy is?  Are there many major types, and do they vary a lot?

Thanks,
ess

[Udkas]

Hi,
I posted and I don't know where it went.. I was thinking of you the other day and I was wondering how you got on.  I am so pleased that you finally have an answer for all your problems.  At least now that you and the Doctors know what you are dealing with they will be better able to target your treatment which should help with your symptoms.  It must be a relief to have an answer after spending so long in Limbo land.  I am a tad envious, not of you having your disease but at least having some answers.  I googled your diagnosis to try and better understand what you are dealing with.  

I guess having an answer doesn't change your symptoms but can give you better treatment options and allow you to plan better for the future etc.  Be prepared that after this diagnosis that you might then feel a bit depressed, I imagine that if I was to get an answer I would be elated and then I would crash.  

Take care of yourself, keep us posted on how it all goes with your treatment, this forum is a great support network for MS, TM, LL (limbo lander's)  working through to a diagnosis, and anyone who seems to have had MS mimics.

I hope to have an answer soon myself, I have a theory brewing and as soon as I get to chat to my neurologist I will run this theory past him, I am confident I might be on the right track.... but who knows..

From a long, long standing limbo lander.

Cheers,
Udkas.

[Quixotic1]

I am pleased that you can now enter a positive phase of dealing with everything.  I am not happey either that you have such a diagnosis, but knowledge is better than living in the dark.  this is such a rare thing that you might not find a forum to hang out in and you've been such a great member of ours.  I welcome you to stay and help others out of LL.

Quix

[Fluffysmom]

Congrats on the diagnosis, such as it is.  I'll have to read up on it.  I take it that it's not a good thing, but being out of limboland is.

I'll read up on your diagnosis later, so I'll know more when you get the results of your biopsy.

Take care,

Kathy

[bearsmum]

There is a forum for Mito, but no one wants to talk to you.  You don't get near the support like you get here, so I am definately staying with you guys!!  So you are all stuck with me  LOL.
A good place to read up about this Mitochondrial Cytopathy is:-

www.emdn-mitonet.co.uk/PDF/COHEN701MitoAdults.pdf

It is a very informative site and tells you pretty well everything you need to know about it.
I hope this site will help answer any questions that you may have.  I am still learning a lot about it.

Thanks for all your support, and yes, I am having very mixed feelings at the moment, elated that I have a diagnosis and can now get the help that I need, but at the same time, absolutely terrified about having this dreadful disease.  Think I would rather MS.  It will be just a matter of getting used to the idea of having this and learning to cope with it and hope that I do getting benefits from any help that I receive.

Cheers and love to you all for caring about me
bearsmum

[Sunnytoday]

bearsmum, you can't leave. :) I would pitch a big fit, and try to come and find you, i'd miss you too much!!!! :)

This is the diagnosis on the plate for me right now so I'm kinda "happy" (but of course sad too) that perhaps there is some one else out there that I could talk to......... I go later this spring to see what my lab results are. So, of course, I need you to hang out here and tell me what to expect on the muscle biopsy. :)
~Sunnytoday~

[bearsmum]

Are you saying that they think that you may have Mito too???
I hope for your sake that you don't, it is something that I wouldn't wish on anyone.
However, if you do, we can certainly support each other a great deal, as I haven't found anyone yet with this disease to talk to.
Please keep in touch with me, as I will with you.
My love and thoughts are with you and all the very best with your results.  I will certainly let you know all about the muscle biopsy after I have mine.

Cheers
bearsmum

[saveone]

I haven't had time to read up on it yet...but I will.  I am sad but happy.  At least you know what you are up against.

Don't you dare leave

terry

[Rena705]

A name to a monster that has been elusive for so long...a relief, albeit not a reason to dance but a reason to get on with your life.  I am happy that you finally can get some help and relief from your symptoms and most of all the feeling that all professionals thinking that all your symptoms are in your head.will finally lift.  Best of luck to you and I hope to hear a regular report on how you are doing ok?  Just because you don't have the dreaded MS doesn't mean you can leave us ok?

Lots of luck and Hugs,
Rena

[Lulu54]

Bearsmum,
I am so glad that Sunny popped in here because I was racking my brain trying to remember who else had written about a possible mitochondrial dx. If it wasn't Sunny I thinking of, then there is someone else around here that also has this rare disorder. For the life of me I can't remember but I'm thinking it perhaps was one of our UK members.

This isn't good news, but it could always be a whole lot worse.  And the research into mitrochondrial diseases is getting attention in whole new ways.

Please, please stick with us if we can be of help to you.  You know how much we all like to give our opinion about everything   :-)

Welcome to the other side of the mountain!
Lulu

[ambrosiawind]

congatulations on your dx!, though the road may be long you have as Lulu said finally stepped to the other side of the mountain.

[bearsmum]

Thank you all so much for caring about me.  It is very comforting to me knowing that I have got so much support out there.  I will NOT be leaving here, you are all too special to me.  As I said, the Mito forum does not give you the support like you guys give.  I don't even bother going in there anymore.  So I am STAYING !!!!! lol.
I will definately keep you all posted and will still pop in each day to read the posts to see if I can be of any comfort to someone else.
Love to you all
bearsmum

[sllowe]

Hi there,

Oh my, I will have to read up about this stuff.

So happy you are staying here with us Bearsmum, and that you now know what it is you are fighting. Looking forward to being here right by your side.

(((hugs)))
Shell