Re: Mitochondrial Myopathy

June 13, 1999

Kathy J. wrote:

Hi Trish,

I haven't been on the list for very long and was wondering if I may ask what

is your mito diagnosis? You are a special person to have such a neat sense

of humor through all you are facing. I will be praying for you. I am being

tested for possibility of mitochondrial myopathy. The reason I ask is not

for me, I have a younger sister with increasing problems. She is having lots

of gastrointestinal, lots of phlegm, nausea, reflux. She is very thin and

appears so weak. She is seeing a specialist (gastroenterologist) has also in

past been diagnosed with focal dystonia. Also, I have recently found out one

of my sisters has botox injections periodically for spasmodic dystonia,

another sister has been diagnosed with fibromyalgia, another brother has

central vision loss (Is a professor and had to stop teaching for a year).

Just concerned in case others may also be mito related. Love, Kathy J

Dear Kathy J.:

It is very nice to meet you!

My diagnosis is Mitochondrial Myopathy, Complexes I and III. I have always

had gastric symptoms ever since I was born and I am 52 years old. Now I am

tube fed, but I struggled all my life with stomach issues, vomitting every

day. My final diagnosis was only last August with Dr. Shoffner in Atlanta,

Georgia. I decided to fly down to Georgia to see Dr. Shoffner and I am very

glad that I did. At least now I know what my diagnosis is and what

supplements to take to help me.

It sounds like most of your family has mito issues. Have any of them been

tested....I mean with muscle biopsies? Maybe all of your syblings should be

tested too.

Your sister has lots of nausea and phlegm too, huh? My son also has the same

thing. It is very hard to deal with sometimes and I truly understand how

much your younger sister is suffering with these gastric issues. You know I

told the stomach doctor this, " I have not been able to walk for a long

time.....I can deal with that more than the gastric issues.....if one does

not feel well inside...internally....it is very hard to function. I have the

wheelchair to get around....yes it is hard....but the stomach issues, to me,

are much harder to deal with. " The fatigue issue and the breathing issues

are very hard to deal with also. Recently, this past year, I have to use

oxygen all the time during the day and sleep with a BiPap at night.

Mito surely affects everyone differently...that's for sure.

As far as trying to stay positive.....I try really hard....sometimes I want

to give up on these tubes, but I can't. I have to go on....for my husband

and my family and my friends. I had another problem this morning....but I

dealt with it and went on. Oh yes, sometimes I cry silently, but I can't

feel sorry for myself. I love life and want to live it to the

fullest....having mito....brings us many obstacles and many new ailments to

deal with....sometimes on a daily basis. It is a very hard disease to have

and a very misunderstood one too. It would be great if mito was well known

to the medical community as is cancer or arthritis or heart disease. We have

to all try to educate as many doctors, nurses, homehealth aids, etc. about

this disease.....that's the only way people will become aware.

I hope I live long enough to see a cure.....but if I don't.....I hope that

someday a cure will be so that future generations won't have to suffer like

we have suffered.

Regards, Trish

June 14, 1999

Hi Trish,

Thanks for answering. My neurologist thinks I have mitochondrial myopathy.

Have had something showing on EMG, now awaiting for muscle biopsy to come

back. Most of my problems are with fatigue, vision problems, dizziness, some

nausea, and bouts of a paralysis type state (when I feel totally winded). I

think I will show your letter to my younger sister (as I've mentioned this to

her but don't think I've made her understand yet.) The doctor has me on a

seizure medication for muscle spasms and like everyone else am trying to find

out everything I can about this as you well know sure does change your

perspective on life and living. God surely means for us to take one day at a

time and make the most of that day. Thank you again for helping to teach me

more. I am forty-nine and like you try to stay positive for family and

others depending on me and I know just like you and other courageous people

on this list God will give me the strength to encourage and not feel sorry

for myself, that is my prayer. Kathy J.

June 14, 1999

Trish...

That was truly a message from the heart... I am sure that most of us

would echo many of your thoughts. You are without doubt an example to

live up to....hope things will be somewhat better now.... " you deserve a

break today.... " (hmm, maybe the fat content is a bit high at McD's,

what say we try something else????)

Love, Merril

June 14, 1999

You mean the Dr. says the Dilanton stabilizes the mitochondrial cell

membrane and if so how much detail or what backing does he have as I have an

interesting story about Dilantin. S.

Re: Mitochondrial Myopathy

>

>Kathy J-

>

>What seizure medication are you taking for the muscle spasms? I take a

non-therapeutic (lower than needed

>to control seizures) dose of Dilantin for the same. You are the first

person that I've run into, who has

>a doctor doing the same thing. You don't by change live in Michigan do you?

My neuro says the Dilantin

>helps to stabilize the cell membrane.

>

>Laurie

>

>> The doctor has me on a

>> seizure medication for muscle spasms and like everyone else am trying to

find

>> out everything I can about this as you well know sure does change your

>> perspective on life and living.

>

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>

June 15, 1999

Hi Laurie,

I am on Neurontin and increased levels over a period of weeks until reaching

therapeutic levels. I was having severe muscle spasms of eyelids, around the

eyes and some facial muscles. Also charlie horses all over my body in places

I didn't know I could have them. The medication is helping some but not all

of them. I am from South Carolina and my doctor is Dr. Rivner from Medical

College of Georgia (I have been told by my neurologist locally there is not a

specialist in this state that I would benefit from so have to go to Augusta).

Seems like several on this list are from Michigan. Have a great day. Kathy

J.

June 15, 1999