Negative frozen biopsy

[Guest guest]

Hi All,

We just heard that Will's biopsy (frozen) was negative. I know that

the accuracy is much less and all of that, but what now. All of our

Drs are saying forget about Mito, even though none of Will's problems

have changed and it still really fits into Mito. Our PCP is starting

to look at Diabetes Insipidus, and the Metabolic clinic wants to

start at square 1 new Dr and all to see if he would have any ideas. I

know the title doesn't really mean anything but I just want a name

even if it's not specific.

I guess for those of you who have been through this what else should

we be looking for, should we sell the farm (so to speak) and try to

get to Atlanta, should we just give up? I'm extremely frustrated and

really don't know what to do, the Drs we talk to are all pretty much

of the mind that if it doesn't happen in front of them it didn't

happen. So no one really takes us seriously, I feel like stopping

everything and just calling 911 for help everytime Will has his

seizures or Respiratory Arrests, I'm tired of dealing with it alone.

Sorry for the rant, but please if you have anyideas they would be

greatly appreciated. I don't know what to do next.

Colorado

List of Symptom's that have been proven:

Migraines

Seizures

Developmental delay

Swallowing issues

Frequent infections

BronchoTracheal malacia

Reflux/ vomiting (inspite of a Nissen)

Very low energy

Frequent leg pain

Automnomic issues (random fevers, tachy, sweating issues)

Not proven but seen frequently:

Apnea/Respiratory Arrest

Inability to walk at times

All over body tremors

[Guest guest]

,

I say just bite the bullet and go to Atlanta if you can afford it

or if insurance will pay for it. They can have it set up for you

probably within a month or so and then you will know one way or

another (probably) with a fresh biopsy. I am sorry that you are

going through this craziness. has only gone through her life

with a probable mito dx but Cohen was happy to treat her with that.

Now I have been diagnosed too and her sibs have it too-guess muscle

biopsies are not always right, huh? Hers was negative!

Dawn

[Guest guest]

Hi Sara,

I'm sorry you still do not have any answers. I can imagine how frustrating that

is - I know for me that it somehow helped to have a name to put to this thing

that was harming my little guy. (BTW, I also think it's why we name things like

hurricanes, etc. b/c, once you have a name, you can feel at least somewhat

grounded, or at least as if you can prepare for what is coming... can you guess

that I live in Florida?).

Anyhow, we did the fresh biopsy in Atlanta and I have to say it was the only

test that gave us any answers. Had we not done the fresh biopsy, we would still

not know b/c it was the mitochondrial enzyme analysis that showed the

mitochondrial defects. Yes, there were other lab markers: an elevated lactic

acid (one), odd pyruvate levels, previous abnormal organic acids, but the frozen

tissue looked " normal " . The mitochondrial enzyme analysis showed defects in the

Complex III process, and a possible defect in Complex I. Since then, I have

learned that defects in Complex III often cause problems in the Complex I

process, so, in essence, he has both.

I know it's a tough decision. I also know of others who did not get answers when

they did the fresh biopsy.What about possibly going to Mayo and meeting with the

docs there? I do know of others who have taken their suspected mito children

there and they have received diagnosis (not always mito, sometimes they've ended

up with a different dx, but dx that the parents felt was accurate. In other

words, the docs that dealt with the children were very clinically and

diagnostically skilled and used to seeing other rare problems).

Anyhow, I'm probably rambling as I'm tired. Good luck with your decision.

Anne R

[Guest guest]

We are just now dealing with a variety of

abnormal findings on the fresh muscle biopsy-still working on the conclusive

diagnosis. One of the key issues that was recently discussed with my daughters

biopsy findings is sending the muscle sample already taken, back for more tests

which is a possibility. That makes me wonder if seeing a metabolic/geneticist

specialist locally may be helpful for you and 1) if they can do any other

tests on the original frozen biopsy sample or 2) if a different

metabolic/genetic doc would have other ideas about a fresh sample. Also,

remember there are other metabolic diseases that can symptomatically resemble mito so how wide of a

sweep of diseases are they looking for.

I am not very experienced with this all

yet, but just some ideas.

Suzanne

From:

AReckling@...

Sent: Wednesday, September 15,

2004 4:56 PM

To: Mito

Subject: Re: Negative frozen biopsy

Hi Sara,

I'm sorry you still do not have any answers. I can

imagine how frustrating that is - I know for me that it somehow helped to have

a name to put to this thing that was harming my little guy. (BTW, I also think

it's why we name things like hurricanes, etc. b/c, once you have a name, you

can feel at least somewhat grounded, or at least as if you can prepare for what

is coming... can you guess that I live in Florida?).

Anyhow, we did the fresh biopsy in Atlanta and I have to say

it was the only test that gave us any answers. Had we not done the fresh

biopsy, we would still not know b/c it was the mitochondrial enzyme analysis that

showed the mitochondrial defects. Yes, there were other lab markers: an

elevated lactic acid (one), odd pyruvate levels, previous abnormal organic

acids, but the frozen tissue looked " normal " . The mitochondrial

enzyme analysis showed defects in the Complex III process, and a possible

defect in Complex I. Since then, I have learned that defects in Complex III

often cause problems in the Complex I process, so, in essence, he has both.

I know it's a tough decision. I also know of

others who did not get answers when they did the fresh biopsy.What about

possibly going to Mayo and meeting with the docs there? I do know of others who

have taken their suspected mito children there

and they have received diagnosis (not always mito, sometimes they've ended up with a

different dx, but dx that the parents felt was accurate. In other words, the

docs that dealt with the children were very clinically and diagnostically

skilled and used to seeing other rare problems).

Anyhow, I'm probably rambling as I'm tired. Good luck

with your decision.

Anne R

Please

contact mito-owner with any problems or questions.

[Guest guest]

,

Will your insurance pay for either Cleveland or Atlanta? If so, I would go

there. I spoke to Dr. Whiteman (Mayo) at the Pittsburgh conference and gave

him a list of my son's symptoms. They include:

uncontrolled migraine

tremor (intermittent)

dysautonomia (temp control probs, syncope, near- syncope, orthostatic

hypotension, ,etc)

abdominal pain

?GERD (no Nissen)

periphrial neuropathy

joint pain

asthma

cognitive changes (short term memory loss)

periodic vision changes

absence spells (without EEG changes)

bleeding problems

mood problems

fatigue

Anyway, within five minutes Dr. Whiteman said, " You've convinced me. I'd

take him to Cohen and get a fresh biopsy. " He said that that is what he would

do first. It took us a year to get into Cleveland.

Your problems with frozen biopsy and problems I've heard that other have

made me convinced that we wanted no part in frozen biopsies. I have refused

to consider one even though our docs have been pretty insistent.

[Guest guest]

Hi ,My name is I am mother to Mia 27 months old we just got back today from Mia's muscle biopsy,keep your head up we still have no dx and they think mito but if you think about it alot of symptoms go with alot deficiencies Will may seem to have mito but really may not.But I know how you feel I was ready to back out of the surgery until I talked to alot of people I wanted to do the fresh but sometime fresh doesn't even show mito from what some of the doctors told me. I was tols mia may have something rare that may not even have a name it's so frustrating and hard to live like this but I do the best i can the lord gave her us for a reason.Keep on them doctors some times you just have to tell them how it's gonna be.I wish you luck.

-- Negative frozen biopsy

Hi All,We just heard that Will's biopsy (frozen) was negative. I know that the accuracy is much less and all of that, but what now. All of our Drs are saying forget about Mito, even though none of Will's problems have changed and it still really fits into Mito. Our PCP is starting to look at Diabetes Insipidus, and the Metabolic clinic wants to start at square 1 new Dr and all to see if he would have any ideas. I know the title doesn't really mean anything but I just want a name even if it's not specific.I guess for those of you who have been through this what else should we be looking for, should we sell the farm (so to speak) and try to get to Atlanta, should we just give up? I'm extremely frustrated and really don't know what to do, the Drs we talk to are all pretty much of the mind that if it doesn't happen in front of them it didn't happen. So no one really takes us seriously, I feel like stopping everything and just calling 911 for help everytime Will has his seizures or Respiratory Arrests, I'm tired of dealing with it alone. Sorry for the rant, but please if you have anyideas they would be greatly appreciated. I don't know what to do next.ColoradoList of Symptom's that have been proven:MigrainesSeizuresDevelopmental delaySwallowing issuesFrequent infectionsBronchoTracheal malaciaReflux/ vomiting (inspite of a Nissen)Very low energyFrequent leg pain Automnomic issues (random fevers, tachy, sweating issues)Not proven but seen frequently:Apnea/Respiratory ArrestInability to walk at timesAll over body tremorsPlease contact mito-owner with any problems or questions.

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[Guest guest]

,

My heart goes out to you...I am at a very similar place... wanting the definitive diagnosis... to have a name and to feel validated...however I am concerned that the technology isn't as strong as it needs to be to figure out the details...ie: should we go to Atlanta and go through all of that ... what if we get a negative diagnosis... will that mean that we have to start over?

Hang in there...hope all stay well...

mom to Jen, age 5, ?mito, ?scad

-------------- Original message -------------- Hi All,We just heard that Will's biopsy (frozen) was negative. I know that the accuracy is much less and all of that, but what now. All of our Drs are saying forget about Mito, even though none of Will's problems have changed and it still really fits into Mito. Our PCP is starting to look at Diabetes Insipidus, and the Metabolic clinic wants to start at square 1 new Dr and all to see if he would have any ideas. I know the title doesn't really mean anything but I just want a name even if it's not specific.I guess for those of you who have been through this what else should we be looking for, should we sell the farm (so to speak) and try to get to Atlanta, should we just give up? I'm extremely frustrated and really don't know what to do, the Drs we talk to are all pretty much of the mind that if it doesn't happen in front of them it didn't happen. So no one really takes us seriously, I feel like stopping everything and just calling 911 for help everytime Will has his seizures or Respiratory Arrests, I'm tired of dealing with it alone. Sorry for the rant, but please if you have anyideas they would be greatly appreciated. I don't know what to do next.ColoradoList of Symptom's that have been proven:MigrainesSeizuresDevelopmental delaySwallowing issuesFrequent infectionsBronchoTracheal malaciaReflux/ vomiting (inspite of a Nissen)Very low energyFrequent leg pain Automnomic issues (random fevers, tachy, sweating issues)Not proven but seen frequently:Apnea/Respiratory ArrestInability to walk at timesAll over body tremorsPlease contact mito-owner with any problems or questions.