Looks like I finally have a diagnosis

[bearsmum]

Hello everyone

Well, I've had my appt with the neuro, and he is 95% sure that I have Mitochondrial cytopathy.  I now have to have specialised blood tests which need to be specially prepared, flown out here in a chill box by plane, fast the next morning, have heaps of blood taken out of me, then sent to the Royal Brisbane for testing, which can take up to 4-6 weeks.  They need to do a DNA analysis/deletions/mutations, and something to do with Pyruvate.  Maybe Quix can help me with this one.  Apparantly from what we can find out, it is caused my a mutation gone wrong whilst I was still just an ovum in mum's womb.  Symptoms slowly appear during the years, which so far have, then as you get older, more and more symptoms appear and they are more rapid and more aggressive.  It affects just about every organ and every part of your body.  There is no cure for this disease and I will need lots of therapies to help cope, especially with lost of muscle use, etc etc etc.
I am in mixed emotions with this.  At times I just want to totally fall apart, and at other times, I think, well I will just get all the help I can get and get on with life, then the thoughts of Dementia and lost of muscles set in and it sets me all off again in an emotional basket case.  Don't know if I am making sense here or not.  Also, am I still able to stay with you guys for support seeing that I don't have MS, but from what I can find, there is no support group on the internet for people with Mitochondrial cytopathy.  Whether it is because not many people have it or what, I don't know.
Thanks for listening and letting me get this off my chest.
Love you all
bearsmum

[bearsmum]

Thank you so much for your kind thoughts and support.

I will most definately keep in touch and let you all know what my results reveal.

hugs to you all
bearsmum

[Lulu54]

Hi Bearsmum,
You have sure been hit with a complex diagnosis, right?  I was not familiar with this so went looking for information and found an easy to understand guide at the Cleveland Clinic website - http://my.clevelandclinic.org/disorders/Mitochondrial_Disease/hic_Mitochondrial_Disease.aspx

Although the list of possible problems is lengthy, it does stress that each individual reacts differently to the mitochondrial genetic flaw.  We will hope that if this dx is confirmed, you have limited physical problems.  Please keep us posted on your progress.  

My best wishes to you, Lulu

[biowham]

Bearsmum, I'm sorry for your diagnosis and your anxiety. There are a large number of mitochondrial disorders, so you might try googling "mitochondrial disorder" to see if you turn up some more group options. Also, please do come and tell us how you're doing and what the further testing reveals.

You are in my thoughts.

Bio

[bearsmum]

Sorry I have taken so long to get back to you but yesterday was a total right off for me.  There is a huge barometer pressure change here with storms etc and it is playing havoc with my head.

I really appreciate all your kinds words and thoughts and you can be rest assured that I won't be leaving you guys, you are all too precious to me.

The mutation variety he thinks I may have is the MERRF mutation becuase of all the epilespy symptoms that I have.

To AMO - many thanks for that info about that support group, I will most check it out, even if I do join that group, I will still stay here with you guys.

My partner and family have been absolutely wonderful, I just wish so much that my mum was still here for me, I miss her so much, she passed 8 years ago and we were extremely close to each other.  When my dad rang, I broke down and cried and so did he, but he also cheered me up and reminded me what a strong and pigheaded girl I am and that I will get through this with all the support that I have got through my family and friends and of course my internet friends.

I am really looking for to christmas as we are spending it with Peter's family and they treat me as one of their own and are wonderful and caring to me, so to be in their company at a time like this will be great.

Once again, thank you all so much for your thoughts, kindness and hugs.
I will keep you informed and will let you know what my blood results are.  I will be finding out on the 30th January which is my next appt with my lovely neuro.

Cheers and kisses to you all
bearsmum

[OperaMBA]

My thoughts and prayers are with you.

Richard

[AMO]

hi     bearsmum,

we all know stress is so tough on our   systems. This is new to you and hope you can emotion    feel somewhat  bettterrr

Thher are internet suppoort group s for mito i belongd to yahoo.
http://groups.yahoo.com/search?query=mitoldies  

if thAT does not work....
go yahoo
groups (on left page)
search Mitoldies...  you   wi ll ned to register   to join .
It has been some years i have been there, But thhey are
very knid  knowedlge and supportive.
I uruge you to join them and ask them what  questionns you  neeed.

YOu can do some reading at the MDA  site (  muscular dystrophy)
lookk for metobolic and then mitochondrial myopathy.

I    am not sure how your symptoms are right now. BUt  keep ing mind that just with many illneses , it iis personal how you are effected.
I knew people in the group (midddlle age adults) who were stilll active. Icould not explian much of what i learned about m ito. I probably forgot it now,. While it can effect

Did they have in mind a certain 'type' i.e. ...
MELAS
MERRF
NARP
etc?

I   understand wsiting for genetic testing  can be SO stressful and waiting emotional. I have have many many typpes of various testing. One test I was sent home and it was to be thrree weeks. That particular one i became extremely anxious over, i called and dhad a script for medication to help me thorugh. You may want to call your doctor and tell them you need some med to help for now.
I was so happy i did, and made me through the wait.

To date nothing has tested positive genetically,,, but a couple of my neuros and i still feel that to be the case (family history aand all).

I wish you well bearsmum.
take care, amo

[sllowe]

Hi there,

Oh my.  Well, one thing that you know for sure right now is that you are a part of us, and you are not allowed to leave.  I don't take too kindly to losing family members - ya hear?

Ok, I don't know anything about this either, so I'm fearful of it like you.  I will see what I can dig up.  Since you don't have results yet of the test, maybe the results will prove the Drs wrong.  I hope you don't have this. Since it's rare, I think the odds are with you.

I'm pulling for you no matter what! Stay with us, share your thoughts here.  HOw is your family feeling about this. ARe they helping you with your thoughts?

ttys,

[buriedinfur]

I'm so sorry to hear this - what a scary thing to have to think about. I hope that they find the firm answer for you soon so that you don't have to wonder anymore.

Best thoughts and wishes.

[Lulu54]

Dear bearsmum,
I'm pretty useless tonight with company here visiting but I caught your post and want to tell you that you are always welcome here and in fact your are expected to be here.  There is no escaping our ccompany so don't make us ocme looking for you.

Love . Lulu

[Udkas]

Hi, you must be feeling mixed emotions at the moment.  Some relief to know what you finally have and some fear to know what you finally have.  I am afraid because it is so rare I don't know anything about it but I am glad that at least you know what you are dealing with.

I read your journal and I am pleased that you have a lovely neurologist ( i think mine is the best in Aus) but the one I go to has spend most of his time in the states then england and now Aus. It makes a difference to have a nice neuro and GP.

Can they give you disease modifying drugs? Something to slow it down? Stay with us on the forum as there are many of us taking uncertain journeys with awaiting our diagnosis.  It is a great support network and a great place to vent your fears, uncertainties with people who have felt the same emotions etc.

Take care, Brisbane is a lovely place.

Cheers,
Udkas.

I am a fellow Australian too and I thought I was the only Aussie on this site.

Take care,
Cheers,
Udkas.

[mokibear]

There is no leaving here. Something to do with MOB rules. Quix would come a hunting you down along with the rest of the forum family.

I'm sorry to hear where your diagnosis is leading you. That must be really hard for you right now. It's no wonder your emotions are in turmoil.

I have never heard of this before so I'll have to do some reading up on it so I'm more informed on what is going on with you.

We are all here for you as you go through this. Lean on us when you need to. You won't be alone as you go through this.

Hugs Moki

[Fluffysmom]

Of course you can stay with us; once you're a part of our family, you're not allowed to leave!  :o)

Seriously, we come to care about people so much here, that we don't want them to leave, no matter what their dianosis, or if they take 15 years or so to get a diagnosis, or one that is the final word.  You are more that welcome to stick around for as long as you want.

Of course your emotions are all mixed up right now; 95% sure that you have a rare genetic mutation sounds like a pretty wild ride.  I'm just glad that there are therapies to help cope with the changes to come, should this be THE diagnosis.  You're making perfect sense.

Maybe someone on the forum that's a whiz at research will be able to find a support group for Mitochondrial cytopathy.  Either way, we'll still be your support group; lots of shoulders to cry on, ears to rant or worry into, hugs to comfort you, and lots of caring and concern.  We tend to make people laugh, too, if you hadn't already noticed.  :o)

Lots of hugs,

Kathy