Re: New to the group....again---MRI SPECTROSKY... RESULTS ARE IN

[Guest guest]

Janet, I am so sorry to hear about your sister!!

Thanks to encouragement I did obtain my MRI,MRA,MRS report. I don't

think it really says much in helping me in my search for an answer,

actually THINK it disproves mito, but who knows...possibly if offers

clues. The Impression reads:

Presence of tiny 1.5 mm nonspecific subcortical white matter in left

frontal region. Diffuse narrowing of intra and extracranial carotid

and vertebrobasilar arteries seen secondary to global vasospasms

from repeated episodes of migraine along with decrease in NAA,

Creatine and Choline peaks. Similar MRA/MRS findings are also seen

in patients suffering from chronic migraine. No evidence of

demyelinating disease is seen.

Report states NO increase in lipid, lactate or mI peaks is seen.

My family dr. feels that I have been having migraines (I feel they

are not even severe, just mild headaches) she prescribed Topamax and

warned it can make me tired (more tired). I have been taking it for

about 3 weeks and it has helped with the headaches and I don't see a

difference with fatigue. However, I can only take one 25 mg a day

because if I increase the dose, like suggested, the side effects of

memory and concentration become a problem.

I am in the process of obtaining the biopsy report. It had to be

sent to my current family dr or I would be charged, including a $17

retrieval fee, then per page fee. Hopefully I will get it next

week. The office had them copied, just waiting for the release to

the dr., not me. Faxed yesterday. HOWEVER, I did just read someone

in a paper by mito dr's that ragged red fibers....abundant amount

needed. Guess 2 aren't abundant.

Hopefully you too will get motivated to get your records...my biopsy

was done in May 2002!!

>

> I have been diagnosed with MELAS via blood test and have mild

symptoms. My sister was diagnosed in 1996 both via blood test and

muscle biopsy when she went into a coma shortly after the blood was

sent for testing. I can give you our symptoms in regard to some of

your questions. As suggested I would get a copy of your report--you

are entitled to it. I believe in most states though they are

allowed to charge a copying fee. I need to get a copy of mine from

1997 done at a hospital two hrs away from where we live. No excuse

and maybe this will motivate me.

>

> > He stated that the results showed 2 ragged red fibers,

> > but it was not enough to be considered mito....ANY THOUGHTS??

>

> FROM RH---

> Um, I think ZERO is considered normal, and more is considered

mito.

> Then again, I don't have RRF (per fresh muscle biopsy), and I have

> MELAS phenotype, Complex I deficiency (again by fresh muscle

biopsy)

> mitochondrial disease.

>

> > Recently I had a MR spectroscopy. The radiologist was amazed he

> > said that the chemical analysis part showed that my chemicals

are

> > 1/3 of what they should be.....ANY THOUGHTS?

>

>

> My sister who was more affected then myself, although she had

different symptoms, had seizures and a stroke, and overall muscle

weakness. The first time she had a seizure (the kind where you

shake) was in 1994 and went into a 4 day coma. She was find

afterwards, doctors thought she had ancephalitis. Feb 1996 she did

it again but this time had a new doc who decided to pursue this.

Her doctors found a pediatrician who had studied in California and

knew of these things. Her blood was sent for testing. Meanwhile a

couple of weeks later she suffered a stroke--recovered enough to be

walking and traveling. A week or two later another 10 hours of

uncontrolled seizures and a drug induced coma for two weeks.

>

> She showed no ragged red fibers on her muscle biopsy. She had

confirmed MELAS and died Oct 1996--8 months after the second 4 day

coma. When she was in the coma in July she was started on DCA

experimental med to lower lactic acid and the vitamin supplements.

They did help her to come out of the coma and she was alert and

cutting strawberries on Aug 19, her birthday. But they were too

little too late and she tried to do much I believe.

>

> As far a a MRI Spectropsky, I had one done in 1997 after a genetic

blood tested confirmed MELAS. I have mild symptoms such as blood

sugar that goes up with physical exercise, the opposite of " normal "

diabetics; some numbness on the top of my one foot; exercise

intolerance and general overall fatique and I get the mito fog.

> We did mine to establish a baseline for what the doc said " in case

all H*** breaks loose " , like it did with my sister. One minute

appearing fine although she was in a coma about a month before that

and next thing she has a stroke, is up and traveling although some

lingering signs with her speach and dragging one limb. Next thing

she is having seizurees they cannot control while on anti seizure

med. This doc is rather unique in his approach.

>

> Anyway, I do not have a copy of the report and unfortunately when

I went to meet with the neurologist who did the study we were

waiting for the other doc who got caught in traffic on the other

side of town. Anyway, she told me that it showed signs of

seizures. She said something about white spots.

>

> I have never been down to her again although a few people on the

other mito list see her. Where she practices is 2 hrs from me and

kind of inconvenient. I am sure there is a copy in my file at the

other docs office even though he is two hrs away also I generally

see him at least once a year. He is off the interstate that is

easier for me to get to.

>

> I believe that the evidence of seizures she was talking about are

about 4 times in my life when I can remember waking up and the

people around me have told me I have fainted. My mother was on anti

seizure med from 1975 until 1988. She would often " faint " and fall

to the floor. She only had one seizure where her arm was shaking.

That is before she died in 1988 but a scan showed she had had

multiple seizures. I believe these are now called drop down

seizures? My son also has " abscence " seizures where he just stares,

like he is spaced out on drugs or something.

>

> Of course mito often causes bad headaches according to the

neurologist in Milwaukee who is also very knowlegeable about mito.

>

>

>

>

>

> >

>

>

>

> Medical advice, information, opinions, data and statements

contained herein are not necessarily those of the list moderators.

The author of this e mail is entirely responsible for its content.

List members are reminded of their responsibility to evaluate the

content of the postings and consult with their physicians regarding

changes in their own treatment.

>

> Personal attacks are not permitted on the list and anyone who

sends one is automatically moderated or removed depending on the

severity of the attack.

>

>

>

>

>

[Guest guest]

,

Glad you got your report. But where did you read abundent needed as far as

ragged red fibers by a mito doc paper. I cannot remember where I saw it besides

on this list--maybe the UMDF site with Dr Cohen papers that ragged red fibers

are not in all cases. In my sisters I know there were not any on her biopsy

because after I found these lists and the UMDF website I asked the doc. Just

curious.

Janet

Re: New to the group....again---MRI SPECTROSKY... RESULTS

ARE IN

Janet, I am so sorry to hear about your sister!!

Thanks to encouragement I did obtain my MRI,MRA,MRS report. I don't

think it really says much in helping me in my search for an answer,

actually THINK it disproves mito, but who knows...possibly if offers

clues. The Impression reads:

Presence of tiny 1.5 mm nonspecific subcortical white matter in left

frontal region. Diffuse narrowing of intra and extracranial carotid

and vertebrobasilar arteries seen secondary to global vasospasms

from repeated episodes of migraine along with decrease in NAA,

Creatine and Choline peaks. Similar MRA/MRS findings are also seen

in patients suffering from chronic migraine. No evidence of

demyelinating disease is seen.

Report states NO increase in lipid, lactate or mI peaks is seen.

My family dr. feels that I have been having migraines (I feel they

are not even severe, just mild headaches) she prescribed Topamax and

warned it can make me tired (more tired). I have been taking it for

about 3 weeks and it has helped with the headaches and I don't see a

difference with fatigue. However, I can only take one 25 mg a day

because if I increase the dose, like suggested, the side effects of

memory and concentration become a problem.

I am in the process of obtaining the biopsy report. It had to be

sent to my current family dr or I would be charged, including a $17

retrieval fee, then per page fee. Hopefully I will get it next

week. The office had them copied, just waiting for the release to

the dr., not me. Faxed yesterday. HOWEVER, I did just read someone

in a paper by mito dr's that ragged red fibers....abundant amount

needed. Guess 2 aren't abundant.

Hopefully you too will get motivated to get your records...my biopsy

was done in May 2002!!

[Guest guest]

Janet,

I actually read it in a case study involving DiMauro, along with

many other dr's, but now I can't find the specific one.

However...thanks for pointing out that it is not in all cases, plus

not all mito's have rrf involved.

Reading the posts lately has helped also because it reminds me how

many symptoms I do have that are so similiar to others. I am like

you when standing and going shopping. Just standing will actually

wear me out more than anything. I also have low grade fevers, cold

feet and hands along with wierd sensory things sometimes.

This just gets sooo confusing!! That is why I stayed away from

looking for a dx and looking at reports for the past few years. I

was getting so discouraged, stressed and depressed that I did get in

a frame of mind that I did not need answers. I quit going to

neurologist, looking on the internet, reviewing testing and reading

the . After 11 years of no diagnoses I just tried to move

on and thought my body was doing okay and learned to deal with

symptoms...I thought.

When I really noticed the atrophy on my hands and wrists, it really

hit me bad!! Noticed the atrophy on my butt 2 years ago, but that

was about the time that I had enough. My two biopsies showed

atrophy type II, but it was so non-specific that the neuro just said

it proved that there was something going on, but did not help with a

dx. Guess that since I could not SEE the atrophy it did not phase

me much after awhile....but now that I can see it in such an obvious

place, it is really getting to me. Especially since I have the

recent dx's of hiatel hernia, 2 thoracic herniated discs and IBS,

just can't help but wonder if internally is getting atrophy and

contributing through the weakness of muscles or causing these things

to happen.

My husband is not very supportive. He cannot understand any of this

and is so medically illiterate. Plus he has said after 11 years of

this and being told so many things from the dr's he just doesn't

believe anything anymore. He is not someone who likes to deal with

things and when I showed him the atrophy he blew it off. I realize

that he needs to do that instead of dealing with it, but it makes me

feel sooo alone. I just get soo tired of looking for answers on my

own and dealing with everything myself. Even down to what type of

dr should I go to becomes so overwhelming sometimes.

On top of this, my 12 yr old daughter went to an orthopedic last

week for constant ankle injuries. While holding her leg, he could

totally move both feet forward and backwards a good bit. He asked

her if she is flexible elsewhere and she showed him different

movements with her hands. He mentioned the word hypotonic while

examining her. Then he looked at me, like waiting for an

explaination. The word sounded familiar, but did not know what it

meant. When I was looking up info on mito I came across the word

again and looked up the definition. Yesterday she went for first PT

session and they had her stand on one leg, it was only 30 seconds

and her leg began to shake....just looked too familiar. Therapist

just said how weak her leg is...I did not say a word. My daughter

is very active in sports and just finished with soccer season last

week....no reason she should be that weak??!!

Janet, thank you so much for your correspondences and your

guidance. Sorry the post is soo long. Just feeling very

overwhelmed lately and just wishing that I had answers and guidance

about everything.

>

> ,

>

> Glad you got your report. But where did you read abundent needed

as far as ragged red fibers by a mito doc paper. I cannot remember

where I saw it besides on this list--maybe the UMDF site with Dr

Cohen papers that ragged red fibers are not in all cases. In my

sisters I know there were not any on her biopsy because after I

found these lists and the UMDF website I asked the doc. Just

curious.

> Janet

> Re: New to the group....again---MRI

SPECTROSKY... RESULTS ARE IN

>

>

> Janet, I am so sorry to hear about your sister!!

>

> Thanks to encouragement I did obtain my MRI,MRA,MRS report. I

don't

> think it really says much in helping me in my search for an

answer,

> actually THINK it disproves mito, but who knows...possibly if

offers

> clues. The Impression reads:

>

> Presence of tiny 1.5 mm nonspecific subcortical white matter in

left

> frontal region. Diffuse narrowing of intra and extracranial

carotid

> and vertebrobasilar arteries seen secondary to global vasospasms

> from repeated episodes of migraine along with decrease in NAA,

> Creatine and Choline peaks. Similar MRA/MRS findings are also

seen

> in patients suffering from chronic migraine. No evidence of

> demyelinating disease is seen.

>

> Report states NO increase in lipid, lactate or mI peaks is seen.

>

> My family dr. feels that I have been having migraines (I feel

they

> are not even severe, just mild headaches) she prescribed Topamax

and

> warned it can make me tired (more tired). I have been taking it

for

> about 3 weeks and it has helped with the headaches and I don't

see a

> difference with fatigue. However, I can only take one 25 mg a

day

> because if I increase the dose, like suggested, the side effects

of

> memory and concentration become a problem.

>

> I am in the process of obtaining the biopsy report. It had to

be

> sent to my current family dr or I would be charged, including a

$17

> retrieval fee, then per page fee. Hopefully I will get it next

> week. The office had them copied, just waiting for the release

to

> the dr., not me. Faxed yesterday. HOWEVER, I did just read

someone

> in a paper by mito dr's that ragged red fibers....abundant

amount

> needed. Guess 2 aren't abundant.

>

> Hopefully you too will get motivated to get your records...my

biopsy

> was done in May 2002!!

>

>

>

>

>

>

>

>

[Guest guest]

,

I just read your post to Janet and felt I could relate to a lot of

what you were saying. I've gone for most of my life without a

diagnosis, or only a partial diagnosis. Sometimes it did feel like

I had adapted to the mystery and was doing fine emotionally and

other times it felt so confusing and scarey. Now, trying to make

heads or tails of this mito stuff is a job in itself!

I know it can be terrible when others--especially a spouse--don't

understand. I think sometimes if we had a crystal clear diagnosis--

and preferably something that was a household word--more people

would know how to be more supportive. Also, it does take a toll on

our loved ones, too. Sometimes I find I have to think carefully

about how to ask them for the support I need and also offer them

some of the support they need, too.

I was sorry to hear about your daughter. Not having children, it's

hard to imagine how those of you with kids might feel when/if they

get mito, too. I am somewhat worried about my niece, but right now

it's unclear whether her eye problems are just eye problems or...you

know what. (BTW, my first symptom, beginning at age 8, was frequent

ankle injuries and I'm also very flexible. At this stage in the

learning-about-mito process, I'm not sure when to draw conclusions

from those types of similarities.)

Anyway, I'm glad you shared how you were feeling.

Best wishes to you,

Shayna

> >

> > ,

> >

> > Glad you got your report. But where did you read abundent

needed

> as far as ragged red fibers by a mito doc paper. I cannot

remember

> where I saw it besides on this list--maybe the UMDF site with Dr

> Cohen papers that ragged red fibers are not in all cases. In my

> sisters I know there were not any on her biopsy because after I

> found these lists and the UMDF website I asked the doc. Just

> curious.

> > Janet

> > Re: New to the group....again---MRI

> SPECTROSKY... RESULTS ARE IN

> >

> >

> > Janet, I am so sorry to hear about your sister!!

> >

> > Thanks to encouragement I did obtain my MRI,MRA,MRS report. I

> don't

> > think it really says much in helping me in my search for an

> answer,

> > actually THINK it disproves mito, but who knows...possibly if

> offers

> > clues. The Impression reads:

> >

> > Presence of tiny 1.5 mm nonspecific subcortical white matter

in

> left

> > frontal region. Diffuse narrowing of intra and extracranial

> carotid

> > and vertebrobasilar arteries seen secondary to global

vasospasms

> > from repeated episodes of migraine along with decrease in NAA,

> > Creatine and Choline peaks. Similar MRA/MRS findings are also

> seen

> > in patients suffering from chronic migraine. No evidence of

> > demyelinating disease is seen.

> >

> > Report states NO increase in lipid, lactate or mI peaks is

seen.

> >

> > My family dr. feels that I have been having migraines (I feel

> they

> > are not even severe, just mild headaches) she prescribed

Topamax

> and

> > warned it can make me tired (more tired). I have been taking

it

> for

> > about 3 weeks and it has helped with the headaches and I don't

> see a

> > difference with fatigue. However, I can only take one 25 mg a

> day

> > because if I increase the dose, like suggested, the side

effects

> of

> > memory and concentration become a problem.

> >

> > I am in the process of obtaining the biopsy report. It had to

> be

> > sent to my current family dr or I would be charged, including

a

> $17

> > retrieval fee, then per page fee. Hopefully I will get it

next

> > week. The office had them copied, just waiting for the

release

> to

> > the dr., not me. Faxed yesterday. HOWEVER, I did just read

> someone

> > in a paper by mito dr's that ragged red fibers....abundant

> amount

> > needed. Guess 2 aren't abundant.

> >

> > Hopefully you too will get motivated to get your records...my

> biopsy

> > was done in May 2002!!

> >

> >

> >

> >

> >

> >

> >

> >

[Guest guest]

I've been in a similar place as you are now, so I think I understand a

little bit. I stopped looking after about 10 years of being told it

was all psychological. I decided to wait until I was so bad that the

docs would have to see it.

It took a trip to Atlanta for a fresh biopsy to finally have a

diagnosis. The frozen biopsies were coming up with vague things, but

nothing very helpful. They said the changes were due to long standing

thyroid disease (something that had always been in total control). It

took 15 years to get a diagnosis.

Just an afterthought concerning your daughter. Does she bruise easily,

scar easily or maybe have stretchy skin. We have Euler Danlos syndrome

in addition to mito. My son is the most affected. It can look like

weakness when it is lacks connective tissue - not inflammation like

lupus, just stretchy.

Thinking of you,

laurie

> Janet,

>

> I actually read it in a case study involving DiMauro, along with

> many other dr's, but now I can't find the specific one.

> However...thanks for pointing out that it is not in all cases, plus

> not all mito's have rrf involved.

>

> Reading the posts lately has helped also because it reminds me how

> many symptoms I do have that are so similiar to others. I am like

> you when standing and going shopping. Just standing will actually

> wear me out more than anything. I also have low grade fevers, cold

> feet and hands along with wierd sensory things sometimes.

>

> This just gets sooo confusing!! That is why I stayed away from

> looking for a dx and looking at reports for the past few years. I

> was getting so discouraged, stressed and depressed that I did get in

> a frame of mind that I did not need answers. I quit going to

> neurologist, looking on the internet, reviewing testing and reading

> the . After 11 years of no diagnoses I just tried to move

> on and thought my body was doing okay and learned to deal with

> symptoms...I thought.

>

> When I really noticed the atrophy on my hands and wrists, it really

> hit me bad!! Noticed the atrophy on my butt 2 years ago, but that

> was about the time that I had enough. My two biopsies showed

> atrophy type II, but it was so non-specific that the neuro just said

> it proved that there was something going on, but did not help with a

> dx. Guess that since I could not SEE the atrophy it did not phase

> me much after awhile....but now that I can see it in such an obvious

> place, it is really getting to me. Especially since I have the

> recent dx's of hiatel hernia, 2 thoracic herniated discs and IBS,

> just can't help but wonder if internally is getting atrophy and

> contributing through the weakness of muscles or causing these things

> to happen.

>

> My husband is not very supportive. He cannot understand any of this

> and is so medically illiterate. Plus he has said after 11 years of

> this and being told so many things from the dr's he just doesn't

> believe anything anymore. He is not someone who likes to deal with

> things and when I showed him the atrophy he blew it off. I realize

> that he needs to do that instead of dealing with it, but it makes me

> feel sooo alone. I just get soo tired of looking for answers on my

> own and dealing with everything myself. Even down to what type of

> dr should I go to becomes so overwhelming sometimes.

>

> On top of this, my 12 yr old daughter went to an orthopedic last

> week for constant ankle injuries. While holding her leg, he could

> totally move both feet forward and backwards a good bit. He asked

> her if she is flexible elsewhere and she showed him different

> movements with her hands. He mentioned the word hypotonic while

> examining her. Then he looked at me, like waiting for an

> explaination. The word sounded familiar, but did not know what it

> meant. When I was looking up info on mito I came across the word

> again and looked up the definition. Yesterday she went for first PT

> session and they had her stand on one leg, it was only 30 seconds

> and her leg began to shake....just looked too familiar. Therapist

> just said how weak her leg is...I did not say a word. My daughter

> is very active in sports and just finished with soccer season last

> week....no reason she should be that weak??!!

>

> Janet, thank you so much for your correspondences and your

> guidance. Sorry the post is soo long. Just feeling very

> overwhelmed lately and just wishing that I had answers and guidance

> about everything.

>

>

>

>

>

> >

> > ,

> >

> > Glad you got your report. But where did you read abundent needed

> as far as ragged red fibers by a mito doc paper. I cannot remember

> where I saw it besides on this list--maybe the UMDF site with Dr

> Cohen papers that ragged red fibers are not in all cases. In my

> sisters I know there were not any on her biopsy because after I

> found these lists and the UMDF website I asked the doc. Just

> curious.

> > Janet

> > Re: New to the group....again---MRI

> SPECTROSKY... RESULTS ARE IN

> >

> >

> > Janet, I am so sorry to hear about your sister!!

> >

> > Thanks to encouragement I did obtain my MRI,MRA,MRS report. I

> don't

> > think it really says much in helping me in my search for an

> answer,

> > actually THINK it disproves mito, but who knows...possibly if

> offers

> > clues. The Impression reads:

> >

> > Presence of tiny 1.5 mm nonspecific subcortical white matter in

> left

> > frontal region. Diffuse narrowing of intra and extracranial

> carotid

> > and vertebrobasilar arteries seen secondary to global vasospasms

> > from repeated episodes of migraine along with decrease in NAA,

> > Creatine and Choline peaks. Similar MRA/MRS findings are also

> seen

> > in patients suffering from chronic migraine. No evidence of

> > demyelinating disease is seen.

> >

> > Report states NO increase in lipid, lactate or mI peaks is seen.

> >

> > My family dr. feels that I have been having migraines (I feel

> they

> > are not even severe, just mild headaches) she prescribed Topamax

> and

> > warned it can make me tired (more tired). I have been taking it

> for

> > about 3 weeks and it has helped with the headaches and I don't

> see a

> > difference with fatigue. However, I can only take one 25 mg a

> day

> > because if I increase the dose, like suggested, the side effects

> of

> > memory and concentration become a problem.

> >

> > I am in the process of obtaining the biopsy report. It had to

> be

> > sent to my current family dr or I would be charged, including a

> $17

> > retrieval fee, then per page fee. Hopefully I will get it next

> > week. The office had them copied, just waiting for the release

> to

> > the dr., not me. Faxed yesterday. HOWEVER, I did just read

> someone

> > in a paper by mito dr's that ragged red fibers....abundant

> amount

> > needed. Guess 2 aren't abundant.

> >

> > Hopefully you too will get motivated to get your records...my

> biopsy

> > was done in May 2002!!

> >

> >

> >

> >

> >

> >

> >

> >

[Guest guest]

> Therapist

> just said how weak her leg is...I did not say a word. My daughter

> is very active in sports and just finished with soccer season last

> week....no reason she should be that weak??!!

Both my sons have hypotonia, and my oldest plays soccer as does your

daughter, he just scored a goal for his travel team last week (and

they stink, so it was quite a feat LOL). I think hypotonia is almost

like a hurdle to get over, not a roadblock. They both have funny

reflexes and loose joints, and only in the last few months is my

younger one not in PT. I find that playing sports seems to help keep

the joints supported so they are not as weak (it seems to be weakness

around the joints rather than overall weakness, or maybe it is that

more strength in the muscles around the joints is needed). The PT may

even help your daughter's soccer skills

Take care,

RH

[Guest guest]

Laurie,

Thanks so much for your response. I do remember that it took you a

fresh biopsy and everything that you went through to get dx'ed and I

try to remember that. Please know that your experience does help

people like me. Fresh vs Frozen was definitely proven in your

case. I did not realize that it was 15 years!! Thanks for the

reminder.

Which would you think would be the best option: go to Cleveland

Clinic or see the chief of genetics locally in Pittsburgh?? I have

to admit that I do not fully understand ALL the genetics part and if

the genetics dr. is also a dr that follows through with the

treatment...etc.

Sorry to hear about your son. My daughter does get bruising and

scarring very easily, but does not have the stretchy skin. She had

seen a ped. neurologist about 5 yrs. ago, but got the USUAL neuro

exam and everything was fine. She was complaining about going up

steps...sounded like weakness that she was describing in child's

terms.

Shayna,

Thanks for your post...I have read alot of yours and now know what

to look for in my biopsy report to make sure that he ordered

everything.

Good Luck with your biopsy and testing. I have learned alot through

your postings and questions.

> > >

> > > ,

> > >

> > > Glad you got your report. But where did you read abundent

needed

> > as far as ragged red fibers by a mito doc paper. I cannot

remember

> > where I saw it besides on this list--maybe the UMDF site with Dr

> > Cohen papers that ragged red fibers are not in all cases. In my

> > sisters I know there were not any on her biopsy because after I

> > found these lists and the UMDF website I asked the doc. Just

> > curious.

> > > Janet

> > > Re: New to the group....again---MRI

> > SPECTROSKY... RESULTS ARE IN

> > >

> > >

> > > Janet, I am so sorry to hear about your sister!!

> > >

> > > Thanks to encouragement I did obtain my MRI,MRA,MRS

report. I

> > don't

> > > think it really says much in helping me in my search for an

> > answer,

> > > actually THINK it disproves mito, but who knows...possibly

if

> > offers

> > > clues. The Impression reads:

> > >

> > > Presence of tiny 1.5 mm nonspecific subcortical white

matter in

> > left

> > > frontal region. Diffuse narrowing of intra and extracranial

> > carotid

> > > and vertebrobasilar arteries seen secondary to global

vasospasms

> > > from repeated episodes of migraine along with decrease in

NAA,

> > > Creatine and Choline peaks. Similar MRA/MRS findings are

also

> > seen

> > > in patients suffering from chronic migraine. No evidence of

> > > demyelinating disease is seen.

> > >

> > > Report states NO increase in lipid, lactate or mI peaks is

seen.

> > >

> > > My family dr. feels that I have been having migraines (I

feel

> > they

> > > are not even severe, just mild headaches) she prescribed

Topamax

> > and

> > > warned it can make me tired (more tired). I have been

taking it

> > for

> > > about 3 weeks and it has helped with the headaches and I

don't

> > see a

> > > difference with fatigue. However, I can only take one 25

mg a

> > day

> > > because if I increase the dose, like suggested, the side

effects

> > of

> > > memory and concentration become a problem.

> > >

> > > I am in the process of obtaining the biopsy report. It had

to

> > be

> > > sent to my current family dr or I would be charged,

including a

> > $17

> > > retrieval fee, then per page fee. Hopefully I will get it

next

> > > week. The office had them copied, just waiting for the

release

> > to

> > > the dr., not me. Faxed yesterday. HOWEVER, I did just read

> > someone

> > > in a paper by mito dr's that ragged red fibers....abundant

> > amount

> > > needed. Guess 2 aren't abundant.

> > >

> > > Hopefully you too will get motivated to get your

records...my

> > biopsy

> > > was done in May 2002!!

> > >

> > >

> > >

> > >

> > >

> > >

> > >

> > >

[Guest guest]

RH,

I bet your son was so thrilled to get that goal!!! I totally agree

that sports has to be helping her strengthen...it is just

frightening how weak she was after playing a season...I would have

thought after 5 days a week, 2 hours a day for 2 1/2 mos her legs

would be stronger. Even the therapist said that if she would have

gotten a push, she would have been down because the leg was too weak

to support her in that instance. I am hoping that after PT she will

be a better soccer player...for her own self goals. She truly loves

soccer and alot of other sports.

For your sons, is it mito related or is this just something that can

happen randomly?? I think it just hit me so hard because I always

try to put my own puzzle pieces together to find a dx and seeing her

with weakness, just hits home.

My Mom also has medical problems and weakness, but at one point she

was told fibromyalgia and she is sticking to that. My maternal

grandma also had medical problems and was always labeled a

hypchondriac.

Thanks Again,

>

> > Therapist

> > just said how weak her leg is...I did not say a word. My

daughter

> > is very active in sports and just finished with soccer season

last

> > week....no reason she should be that weak??!!

>

> Both my sons have hypotonia, and my oldest plays soccer as does

your

> daughter, he just scored a goal for his travel team last week (and

> they stink, so it was quite a feat LOL). I think hypotonia is

almost

> like a hurdle to get over, not a roadblock. They both have funny

> reflexes and loose joints, and only in the last few months is my

> younger one not in PT. I find that playing sports seems to help

keep

> the joints supported so they are not as weak (it seems to be

weakness

> around the joints rather than overall weakness, or maybe it is

that

> more strength in the muscles around the joints is needed). The PT

may

> even help your daughter's soccer skills

>

> Take care,

> RH

>

[Guest guest]

If you have had one negative biopsy, then I would suggest going for a

fresh one. Are they doing them in Pittsburgh? I guess I might see the

genetics doctor at some point, but not have another frozen biopsy.

That is just my opinion based on my experience.

My son has had several surgeries to address the lax joints, but now

that he has a diagnosis, he is just more careful - getting older and

not doing foolish things as teens to has helped. Considering that he

has mito, Euler Danlos and is a carrier for Thallesmia, he is doing

well.

laurie

> Laurie,

>

> Thanks so much for your response. I do remember that it took you a

> fresh biopsy and everything that you went through to get dx'ed and I

> try to remember that. Please know that your experience does help

> people like me. Fresh vs Frozen was definitely proven in your

> case. I did not realize that it was 15 years!! Thanks for the

> reminder.

>

> Which would you think would be the best option: go to Cleveland

> Clinic or see the chief of genetics locally in Pittsburgh?? I have

> to admit that I do not fully understand ALL the genetics part and if

> the genetics dr. is also a dr that follows through with the

> treatment...etc.

>

> Sorry to hear about your son. My daughter does get bruising and

> scarring very easily, but does not have the stretchy skin. She had

> seen a ped. neurologist about 5 yrs. ago, but got the USUAL neuro

> exam and everything was fine. She was complaining about going up

> steps...sounded like weakness that she was describing in child's

> terms.

>

>

>

> Shayna,

>

> Thanks for your post...I have read alot of yours and now know what

> to look for in my biopsy report to make sure that he ordered

> everything.

>

> Good Luck with your biopsy and testing. I have learned alot through

> your postings and questions.

>

>

>

>

>

>

> > > >

> > > > ,

> > > >

> > > > Glad you got your report. But where did you read abundent

> needed

> > > as far as ragged red fibers by a mito doc paper. I cannot

> remember

> > > where I saw it besides on this list--maybe the UMDF site with Dr

> > > Cohen papers that ragged red fibers are not in all cases. In my

> > > sisters I know there were not any on her biopsy because after I

> > > found these lists and the UMDF website I asked the doc. Just

> > > curious.

> > > > Janet

> > > > Re: New to the group....again---MRI

> > > SPECTROSKY... RESULTS ARE IN

> > > >

> > > >

> > > > Janet, I am so sorry to hear about your sister!!

> > > >

> > > > Thanks to encouragement I did obtain my MRI,MRA,MRS

> report. I

> > > don't

> > > > think it really says much in helping me in my search for an

> > > answer,

> > > > actually THINK it disproves mito, but who knows...possibly

> if

> > > offers

> > > > clues. The Impression reads:

> > > >

> > > > Presence of tiny 1.5 mm nonspecific subcortical white

> matter in

> > > left

> > > > frontal region. Diffuse narrowing of intra and extracranial

> > > carotid

> > > > and vertebrobasilar arteries seen secondary to global

> vasospasms

> > > > from repeated episodes of migraine along with decrease in

> NAA,

> > > > Creatine and Choline peaks. Similar MRA/MRS findings are

> also

> > > seen

> > > > in patients suffering from chronic migraine. No evidence of

> > > > demyelinating disease is seen.

> > > >

> > > > Report states NO increase in lipid, lactate or mI peaks is

> seen.

> > > >

> > > > My family dr. feels that I have been having migraines (I

> feel

> > > they

> > > > are not even severe, just mild headaches) she prescribed

> Topamax

> > > and

> > > > warned it can make me tired (more tired). I have been

> taking it

> > > for

> > > > about 3 weeks and it has helped with the headaches and I

> don't

> > > see a

> > > > difference with fatigue. However, I can only take one 25

> mg a

> > > day

> > > > because if I increase the dose, like suggested, the side

> effects

> > > of

> > > > memory and concentration become a problem.

> > > >

> > > > I am in the process of obtaining the biopsy report. It had

> to

> > > be

> > > > sent to my current family dr or I would be charged,

> including a

> > > $17

> > > > retrieval fee, then per page fee. Hopefully I will get it

> next

> > > > week. The office had them copied, just waiting for the

> release

> > > to

> > > > the dr., not me. Faxed yesterday. HOWEVER, I did just read

> > > someone

> > > > in a paper by mito dr's that ragged red fibers....abundant

> > > amount

> > > > needed. Guess 2 aren't abundant.

> > > >

> > > > Hopefully you too will get motivated to get your

> records...my

> > > biopsy

> > > > was done in May 2002!!

> > > >

> > > >

> > > >

> > > >

> > > >

> > > >

> > > >

> > > >

[Guest guest]

Laurie,

I have actually had 2 frozen...both showed atrophy type II and the

last one (2 1/2 yrs ago) showed just 2 rrf. I am waiting for the

actual report on that one. I did suggest a fresh biopsy last time,

but the dr. did not agree and yes, he was on the suggested list from

UMDF. Seemed more in the knowledge once people are dx'ed than the

disease and process of dx'ing. I am not aware they are doing fresh

biopsies in pittsburgh. Cleveland or Atlanta? Does it matter?

Ortho. did let us know that surgery is an option, but last resort.

Wow..so not only did you deal with yourself, but your children too!

Glad to hear that he is doing well with everything.

Thanks for the imput!! That is what I thought, but was not sure of

the genetic part of things.

> > >

> > >

> > >

> > > I've been in a similar place as you are now, so I think I

> > understand a

> > > little bit. I stopped looking after about 10 years of being

told it

> > > was all psychological. I decided to wait until I was so bad

that

> > the

> > > docs would have to see it.

> > >

> > > It took a trip to Atlanta for a fresh biopsy to finally have a

> > > diagnosis. The frozen biopsies were coming up with vague

things,

> > but

> > > nothing very helpful. They said the changes were due to long

> > standing

> > > thyroid disease (something that had always been in total

control).

> > It

> > > took 15 years to get a diagnosis.

> > >

> > > Just an afterthought concerning your daughter. Does she bruise

> > easily,

> > > scar easily or maybe have stretchy skin. We have Euler Danlos

> > syndrome

> > > in addition to mito. My son is the most affected. It can look

like

> > > weakness when it is lacks connective tissue - not

inflammation like

> > > lupus, just stretchy.

> > >

> > > Thinking of you,

> > > laurie

> > >

> > > >

> > > >

> > > >

> > > >

[Guest guest]

>

>

>

> If you have had one negative biopsy, then I would suggest going for a

> fresh one. Are they doing them in Pittsburgh?

A note on this, I had a fresh biopsy at UPMC in Pittsburgh, saw Dr.

Lacomis intially.

Marla

[Guest guest]

The last I heard, only Cleveland and Atlanta are truly

doing FRESH biopsies. Several centers say they are

doing fresh biopsies but only the gross pathology is

fresh. They freeze the specimen and ship it to

another center to have the RTC evaluated. The

hospitals in Chicago and Milwaukee frequesntly tell

their patients that the biopsy will be fresh when it

really isn'[t. The key is to determine where the RTC

evaluation is actually done.

--- larual2002 larual2002@...> wrote:

> Laurie,

>

> I have actually had 2 frozen...both showed atrophy

> type II and the

> last one (2 1/2 yrs ago) showed just 2 rrf. I am

> waiting for the

> actual report on that one. I did suggest a fresh

> biopsy last time,

> but the dr. did not agree and yes, he was on the

> suggested list from

> UMDF. Seemed more in the knowledge once people are

> dx'ed than the

> disease and process of dx'ing. I am not aware they

> are doing fresh

> biopsies in pittsburgh. Cleveland or Atlanta?

> Does it matter?

>

> Ortho. did let us know that surgery is an option,

> but last resort.

> Wow..so not only did you deal with yourself, but

> your children too!

> Glad to hear that he is doing well with everything.

>

> Thanks for the imput!! That is what I thought, but

> was not sure of

> the genetic part of things.

>

>

>

>

> > > >

> > > >

> > > >

> > > > I've been in a similar place as you are now,

> so I think I

> > > understand a

> > > > little bit. I stopped looking after about 10

> years of being

> told it

> > > > was all psychological. I decided to wait

> until I was so bad

> that

> > > the

> > > > docs would have to see it.

> > > >

> > > > It took a trip to Atlanta for a fresh biopsy

> to finally have a

> > > > diagnosis. The frozen biopsies were coming up

> with vague

> things,

> > > but

> > > > nothing very helpful. They said the changes

> were due to long

> > > standing

> > > > thyroid disease (something that had always

> been in total

> control).

> > > It

> > > > took 15 years to get a diagnosis.

> > > >

> > > > Just an afterthought concerning your

> daughter. Does she bruise

> > > easily,

> > > > scar easily or maybe have stretchy skin. We

> have Euler Danlos

> > > syndrome

> > > > in addition to mito. My son is the most

> affected. It can look

> like

> > > > weakness when it is lacks connective tissue -

> not

> inflammation like

> > > > lupus, just stretchy.

> > > >

> > > > Thinking of you,

> > > > laurie

> > > >

>

> > > > >

> > > > >

> > > > >

> > > > >

[Guest guest]

Marla,

Did you see Dr. Lacomis for mito??!! I have seen him before for

EMG's and he did my single muscle biopsy, but I was referred by Dr.

Eidelman, who left for Mayo in Fl.

Because I knew that Dr. Eidelman thought alot of Dr. Lacomis and

valued his knowledge, I called Dr. Lacomis to see about scheduling

an app't. Becky told me that I have to submit my medical records

for review to see if he will take me as a patient, so I am in the

process of getting pertinent records.

I just am having a hard time on where to go. Lacomis, genetics or

fresh biopsy in cleveland or atlanta.

Do you get currently see a dr. in Pittsburgh?? You had stated that

initially you say Dr. Lacomis.

If you would rather correspond privately, please email me at

larual2002@...

Thanks!

> >

> >

> >

> > If you have had one negative biopsy, then I would suggest going

for a

> > fresh one. Are they doing them in Pittsburgh?

>

> A note on this, I had a fresh biopsy at UPMC in Pittsburgh, saw

Dr.

> Lacomis intially.

> Marla

>

[Guest guest]

Thanks for the heads up!!!!!!

> > > > >

> > > > >

> > > > >

> > > > > I've been in a similar place as you are now,

> > so I think I

> > > > understand a

> > > > > little bit. I stopped looking after about 10

> > years of being

> > told it

> > > > > was all psychological. I decided to wait

> > until I was so bad

> > that

> > > > the

> > > > > docs would have to see it.

> > > > >

> > > > > It took a trip to Atlanta for a fresh biopsy

> > to finally have a

> > > > > diagnosis. The frozen biopsies were coming up

> > with vague

> > things,

> > > > but

> > > > > nothing very helpful. They said the changes

> > were due to long

> > > > standing

> > > > > thyroid disease (something that had always

> > been in total

> > control).

> > > > It

> > > > > took 15 years to get a diagnosis.

> > > > >

> > > > > Just an afterthought concerning your

> > daughter. Does she bruise

> > > > easily,

> > > > > scar easily or maybe have stretchy skin. We

> > have Euler Danlos

> > > > syndrome

> > > > > in addition to mito. My son is the most

> > affected. It can look

> > like

> > > > > weakness when it is lacks connective tissue -

> > not

> > inflammation like

> > > > > lupus, just stretchy.

> > > > >

> > > > > Thinking of you,

> > > > > laurie

> > > > >

> >

> > > > > >

> > > > > >

> > > > > >

> > > > > >

[Guest guest]

> I bet your son was so thrilled to get that goal!!! I totally agree

> that sports has to be helping her strengthen...it is just

> frightening how weak she was after playing a season...I would have

> thought after 5 days a week, 2 hours a day for 2 1/2 mos her legs

> would be stronger. Even the therapist said that if she would have

> gotten a push, she would have been down because the leg was too

> weak to support her in that instance. I am hoping that after PT

> she will be a better soccer player...for her own self goals. She

> truly loves soccer and alot of other sports.

I used to play soccer, and I found that the start/stop of it was bad

in my case. I now play hockey - it keeps my heart rate up and I feel

better when I play and for the next day.

Although others with mito differ in the ability to exercise, I

suggest you take one thing that I did and use it. I was a detective,

trying to figure out what I could tolerate, what was better, and what

was worse. I gave up soccer because my body couldn't tolerate it,

but I play hockey strongly and love the sport now. I play roller

hockey, which is non-checking, so less danger of getting hurt.

> For your sons, is it mito related or is this just something that

> can happen randomly??

I believe that it is either mito-related, or genetic in another

manner. I think the fact that two of my three kids have it (third

hasn't been examined) makes it likely there is a genetic connection.

> I think it just hit me so hard because I

> always try to put my own puzzle pieces together to find a dx and

> seeing her with weakness, just hits home.

It is REALLY hard for many of us with mito to keep hydrated. I use

Gatorade when I play sports, and found that it helps much more than

water. Some coaches and even some articles say that plain water is

better, but I don't think that's true for us.

> My Mom also has medical problems and weakness, but at one point she

> was told fibromyalgia and she is sticking to that.

I was told I have 10 of the 14 points, or whatever, that I have

fibromyalgia too (correct me if I'm confusing this). Is it

fibromyalgia, or the same symptoms from mito? Or are fibromyalgia

cases really due to mito issue?

> My maternal grandma also had medical problems and was always

> labeled a hypchondriac.

I was also called a hypochondriac by my brothers, I was sick for six

or more weeks per year from 12 to 18. That's when I took A LOT of

erythromycin, which now we know is one drug that can cause mito

damage.

Am I understanding that your daughter does not have a dx?

Take care,

RH

>

> >

> > > Therapist

> > > just said how weak her leg is...I did not say a word. My

> daughter

> > > is very active in sports and just finished with soccer season

> last

> > > week....no reason she should be that weak??!!

> >

> > Both my sons have hypotonia, and my oldest plays soccer as does

> your

> > daughter, he just scored a goal for his travel team last week

(and

> > they stink, so it was quite a feat LOL). I think hypotonia is

> almost

> > like a hurdle to get over, not a roadblock. They both have funny

> > reflexes and loose joints, and only in the last few months is my

> > younger one not in PT. I find that playing sports seems to help

> keep

> > the joints supported so they are not as weak (it seems to be

> weakness

> > around the joints rather than overall weakness, or maybe it is

> that

> > more strength in the muscles around the joints is needed). The

PT

> may

> > even help your daughter's soccer skills

> >

> > Take care,

> > RH

> >

>