RE: Re: Skin Fibroblast Studies

[Guest guest]

Joanne, Thanks for sharing this information. The FOD lab at the Medical

College of Wisconsin worked on my tissue and my son's about 15 years ago on

a research basis (not for diagnosis which we already had). They were

specifically looking at variations upon carnitine, CPT, ATP and nucleotides

via muscle. Dr. Wortmann was there at the time and was the research

person working on our family stuff. Not sure if Dr. Rhead was there at that

point or if he was involved, but I'm glad to know they are still doing good

work on FODs.

It sounds like Mayo is still saying that OXPHOS diagnosis by fibroblast

analysis of enzyme activity is iffy. It may or may not reveal a

mitochondrial respiratory chain disorder. At least that's what I hear in

what you've posted. This would fit with what I've been told from other

experts. Fibroblasts are definitely more useful in FODs.

Barbara

_____

From: [mailto: ] On Behalf

Of Joanne Kocourek

Sent: Thursday, June 30, 2005 11:35 AM

To:

Subject: Re: Skin Fibroblast Studies

We returned from clinic visits at Mayo Clinic last night. I did have the

opportunity to ask Dr. Whiteman specifically about the best way for families

to have formal skin fibroblast studies completed (if they are not patients

at Mayo Clinic). He provvided information sheets that I would be happy to

fax to anyone that is interested with the specific ordering information.

Mayo Clinic Lab runs Mitochondrial Respiratory Chain Complex Profiles on

skin fibroblasts. He said the ideal is to have the skin tissue sample taken

and grown locally, then to have the lab forward some of the dcells fo

ranalysis. That way the originating center has additional cells if more are

needed. else a sample can bne taken and shipped immediately (the order

codes are different). Then Mayo grows the cells and maintains the sample.

The challenge with this route is getting the cells to Mayo quickly enough

that they are viable for growth and analysis. He indicated that often the

cells are damaged in transit

and then Mayo has nothing or a suboptimal specimen to work with. If you are

interested in having me fax a copy of the ordering information from Mayo,

please send me a private post with your fax number. NOTE: A skin fibroblast

study may or may not be able to yield a diagnosis, but it is one study that

is far less invasive than a muscle biopsy. If the result is positive, you

may be spared a muscle biopsy. If it is negative, a muscle biopsy may still

be indicated if mitochondrial disease is suspected.

Generally cell samples are grown locally and split. He typically suggests

that cells be evaluated for both mitochondrial function and FOD related

analysis. My girls had their FOD analysis completed (and now being redone

with newer technology) at Children's Hospital of Wisconsin in Bill Rhead's

lab at Dr. Whiteman's request. Bill's lab is also supposed to be superb in

conducting analysis for carnitine related dysfunction as well.

The following is some of the general contact information for both the Mayo

Lab and Dr. Rhead's Lab.

Mayo Medical Laboratories (Rochester, MN)

Mayo Clinic Biochemical Genetics Laboratory

Phone: for Supplemental Diagnostic testing/Consultation

Fax:

Co-Directors: Dietrich Matern, MD, FACMG matern@... and Piero Rinaldo*,

MD, PhD, FACMG rinaldo@...

Website:http://www.mayoclinic.org/laboratorygenetics-rst/newbornscreening.ht

ml

Please note that approximately 35 disorders of fatty acid, amino acid, and

organic acid metabolism are included in the Supplemental Newborn Screen

(SNS). Your physician, hospital, or hospital laboratory must arrange for SNS

testing, including requesting screening cards and submitting samples to

Mayo. Mayo is unable to accept specimens directly from patients or families.

Mayo works directly with health care providers and laboratories who may

contact Mayo to arrange for SNS testing for their patients by calling

1-.

Metabolism Clinic Appointments for patients who wish to be seen in

consultation at Mayo Clinic

Whiteman* MD

Appointments:

Fax:

[Please note: Self-referrals are accepted at Mayo, however, we cannot make

specific clinical recommendations prior to evaluating you or your child. It

is very helpful to have your primary physician contact us and send a

referral summary and relevant laboratory reports. With this information, we

may be able to provide your physician with some guidance if necessary prior

to your evaluation.]

Labs that perform FOD Diagnostic Testing, Research and/or Consultation

[Note: Each Lab has their own procedures for diagnostic testing and which

specific FODs may be tested, researched, and/or clinically treated. Some

Labs only perform diagnostics, but others may offer onsite clinical

evaluation/treatment (and possibly emergency phone consultation) by

physicians experienced with FODs. Please have your physician contact the

specific Lab to determine what services they can provide. Please note that

professionals on both lists with an * next to their name have listed on a

Professional Questionnaire that families may contact them or their staff

directly via email and/or phone. If for some reason their policies change,

however, have your physician contact them for information.]

Medical College of Wisconsin - Fatty Acid Oxidation Disorder Lab (Milwaukee,

WI)

Rhead*, MD, PhD, Director

wrhead@...

Phone:

Website:

http://www.chw.org/display/PPF/DocID/9972/router.asp

FODs Addressed At This Site

Carnitine Transport Defect (Primary Carnitine Deficiency)

Carnitine-Acylcarnitine Translocase Deficiency (Translocase)

Carnitine Palmitoyl Transferase I & II (CPT I & II) Deficiency

Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency

Long Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency

Trifunctional Protein (TFP) Deficiency

Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency

2,4 Dienoyl-CoA Reductase Deficiency

Short Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency

Short Chain L-3-Hydroxyacyl-CoA Dehydrogenase (SCHAD) Deficiency

Electron Transfer Flavoprotein (ETF) Dehydrogenase Deficiency (GAII &

MADD)

3-Hydroxy-3 Methylglutaryl-CoA Lyase Deficiency (HMG)

Unclassified FODs

Joanne Kocourek (mom to , lies, and )

visit us at: http://www.caringbridge.org/il/annakris

[Guest guest]

Hi Barbara,

Dr. Rhead has only been at CHW for several years. He recently started rerunning

my daughters studies, using their new technology, and has now identified

" findings " that were NOT found approximately 5 years ago (using the same tissue

samples).

With mitochondrial function studies, it really seems to depend on a combination

of teh tissue sample and technique. My girls have had DIFFERENT findings from

every tissue sample analyzed, ie every muscle biopsy and every skin fibnroblast

study has yielded different results. Because all of the results have been

different, they keep looking (and the more they look the more they find).

I don't know if evaluating oxphos activity is any easier or more difficult usifn

skin fibroblast than muscle. One has to remember the significant number of

patients that have had NEGATIVE muscle biopsies (especially frozen). From my

perspective, a skin biopsy is far less invasive and less expensive than a muscle

biopsy. If a patient is fortunate and obtains a diagnosis this way, it spares

them the surgical trauma and anesthesia risk. If the study is negative, than a

surgical biopsy is still an option to be considered. The other consideration is

that many patients with mitochondrial disease also have secondary FOD's. So it

might help rule in or rule out the disease process.

Barbara Seaman wheatchild@...> wrote:

Joanne, Thanks for sharing this information. The FOD lab at the Medical

College of Wisconsin worked on my tissue and my son's about 15 years ago on

a research basis (not for diagnosis which we already had). They were

specifically looking at variations upon carnitine, CPT, ATP and nucleotides

via muscle. Dr. Wortmann was there at the time and was the research

person working on our family stuff. Not sure if Dr. Rhead was there at that

point or if he was involved, but I'm glad to know they are still doing good

work on FODs.

It sounds like Mayo is still saying that OXPHOS diagnosis by fibroblast

analysis of enzyme activity is iffy. It may or may not reveal a

mitochondrial respiratory chain disorder. At least that's what I hear in

what you've posted. This would fit with what I've been told from other

experts. Fibroblasts are definitely more useful in FODs.

Barbara

_____

From: [mailto: ] On Behalf

Of Joanne Kocourek

Sent: Thursday, June 30, 2005 11:35 AM

To:

Subject: Re: Skin Fibroblast Studies

We returned from clinic visits at Mayo Clinic last night. I did have the

opportunity to ask Dr. Whiteman specifically about the best way for families

to have formal skin fibroblast studies completed (if they are not patients

at Mayo Clinic). He provvided information sheets that I would be happy to

fax to anyone that is interested with the specific ordering information.

Mayo Clinic Lab runs Mitochondrial Respiratory Chain Complex Profiles on

skin fibroblasts. He said the ideal is to have the skin tissue sample taken

and grown locally, then to have the lab forward some of the dcells fo

ranalysis. That way the originating center has additional cells if more are

needed. else a sample can bne taken and shipped immediately (the order

codes are different). Then Mayo grows the cells and maintains the sample.

The challenge with this route is getting the cells to Mayo quickly enough

that they are viable for growth and analysis. He indicated that often the

cells are damaged in transit

and then Mayo has nothing or a suboptimal specimen to work with. If you are

interested in having me fax a copy of the ordering information from Mayo,

please send me a private post with your fax number. NOTE: A skin fibroblast

study may or may not be able to yield a diagnosis, but it is one study that

is far less invasive than a muscle biopsy. If the result is positive, you

may be spared a muscle biopsy. If it is negative, a muscle biopsy may still

be indicated if mitochondrial disease is suspected.

Generally cell samples are grown locally and split. He typically suggests

that cells be evaluated for both mitochondrial function and FOD related

analysis. My girls had their FOD analysis completed (and now being redone

with newer technology) at Children's Hospital of Wisconsin in Bill Rhead's

lab at Dr. Whiteman's request. Bill's lab is also supposed to be superb in

conducting analysis for carnitine related dysfunction as well.

The following is some of the general contact information for both the Mayo

Lab and Dr. Rhead's Lab.

Mayo Medical Laboratories (Rochester, MN)

Mayo Clinic Biochemical Genetics Laboratory

Phone: for Supplemental Diagnostic testing/Consultation

Fax:

Co-Directors: Dietrich Matern, MD, FACMG matern@... and Piero Rinaldo*,

MD, PhD, FACMG rinaldo@...

Website:http://www.mayoclinic.org/laboratorygenetics-rst/newbornscreening.ht

ml

Please note that approximately 35 disorders of fatty acid, amino acid, and

organic acid metabolism are included in the Supplemental Newborn Screen

(SNS). Your physician, hospital, or hospital laboratory must arrange for SNS

testing, including requesting screening cards and submitting samples to

Mayo. Mayo is unable to accept specimens directly from patients or families.

Mayo works directly with health care providers and laboratories who may

contact Mayo to arrange for SNS testing for their patients by calling

1-.

Metabolism Clinic Appointments for patients who wish to be seen in

consultation at Mayo Clinic

Whiteman* MD

Appointments:

Fax:

[Please note: Self-referrals are accepted at Mayo, however, we cannot make

specific clinical recommendations prior to evaluating you or your child. It

is very helpful to have your primary physician contact us and send a

referral summary and relevant laboratory reports. With this information, we

may be able to provide your physician with some guidance if necessary prior

to your evaluation.]

Labs that perform FOD Diagnostic Testing, Research and/or Consultation

[Note: Each Lab has their own procedures for diagnostic testing and which

specific FODs may be tested, researched, and/or clinically treated. Some

Labs only perform diagnostics, but others may offer onsite clinical

evaluation/treatment (and possibly emergency phone consultation) by

physicians experienced with FODs. Please have your physician contact the

specific Lab to determine what services they can provide. Please note that

professionals on both lists with an * next to their name have listed on a

Professional Questionnaire that families may contact them or their staff

directly via email and/or phone. If for some reason their policies change,

however, have your physician contact them for information.]

Medical College of Wisconsin - Fatty Acid Oxidation Disorder Lab (Milwaukee,

WI)

Rhead*, MD, PhD, Director

wrhead@...

Phone:

Website:

http://www.chw.org/display/PPF/DocID/9972/router.asp

FODs Addressed At This Site

Carnitine Transport Defect (Primary Carnitine Deficiency)

Carnitine-Acylcarnitine Translocase Deficiency (Translocase)

Carnitine Palmitoyl Transferase I & II (CPT I & II) Deficiency

Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency

Long Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency

Trifunctional Protein (TFP) Deficiency

Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency

2,4 Dienoyl-CoA Reductase Deficiency

Short Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency

Short Chain L-3-Hydroxyacyl-CoA Dehydrogenase (SCHAD) Deficiency

Electron Transfer Flavoprotein (ETF) Dehydrogenase Deficiency (GAII &

MADD)

3-Hydroxy-3 Methylglutaryl-CoA Lyase Deficiency (HMG)

Unclassified FODs

Joanne Kocourek (mom to , lies, and )

visit us at: http://www.caringbridge.org/il/annakris

[Guest guest]

I'm glad to know Dr. Rhead is finding new information for you using new

techniques. This is encouraging. Your diagnostic story sounds familiar.

Quite a few patients seem to get different results from different experts

and different tissue samplings, even different results on two fresh biopsies

where the testing was done by different well-known experts. I know a couple

families where this has happened and it was very confusing for them,

wondering which diagnosis was " right. " I'm fortunate in that muscle has

always given us consistent results, regardless of which expert, which lab

and which biopsy has been tested, and we've had lots of all of the above.

That is reassuring to me. My fibroblast results also support and extend the

understanding, but don't conflict with muscle results. I hope you can

eventually find a way to integrate all the findings on your girls into a

diagnostic picture that makes sense and that can be managed successfully.

You're sure trying hard to get help for them, and I understand (and admire)

that. In the end, all your efforts will make a difference for your girls.

Take care,

Barbara

_____

From: [mailto: ] On Behalf

Of Joanne Kocourek

Sent: Thursday, June 30, 2005 12:23 PM

To:

Subject: RE: Re: Skin Fibroblast Studies

Hi Barbara,

Dr. Rhead has only been at CHW for several years. He recently started

rerunning my daughters studies, using their new technology, and has now

identified " findings " that were NOT found approximately 5 years ago (using

the same tissue samples).

With mitochondrial function studies, it really seems to depend on a

combination of teh tissue sample and technique. My girls have had DIFFERENT

findings from every tissue sample analyzed, ie every muscle biopsy and every

skin fibnroblast study has yielded different results. Because all of the

results have been different, they keep looking (and the more they look the

more they find).

I don't know if evaluating oxphos activity is any easier or more difficult

usifn skin fibroblast than muscle. One has to remember the significant

number of patients that have had NEGATIVE muscle biopsies (especially

frozen). From my perspective, a skin biopsy is far less invasive and less

expensive than a muscle biopsy. If a patient is fortunate and obtains a

diagnosis this way, it spares them the surgical trauma and anesthesia risk.

If the study is negative, than a surgical biopsy is still an option to be

considered. The other consideration is that many patients with

mitochondrial disease also have secondary FOD's. So it might help rule in

or rule out the disease process.

Barbara Seaman wheatchild@...> wrote:

Joanne, Thanks for sharing this information. The FOD lab at the Medical

College of Wisconsin worked on my tissue and my son's about 15 years ago on

a research basis (not for diagnosis which we already had). They were

specifically looking at variations upon carnitine, CPT, ATP and nucleotides

via muscle. Dr. Wortmann was there at the time and was the research

person working on our family stuff. Not sure if Dr. Rhead was there at that

point or if he was involved, but I'm glad to know they are still doing good

work on FODs.

It sounds like Mayo is still saying that OXPHOS diagnosis by fibroblast

analysis of enzyme activity is iffy. It may or may not reveal a

mitochondrial respiratory chain disorder. At least that's what I hear in

what you've posted. This would fit with what I've been told from other

experts. Fibroblasts are definitely more useful in FODs.

Barbara

_____

From: [mailto: ] On Behalf

Of Joanne Kocourek

Sent: Thursday, June 30, 2005 11:35 AM

To:

Subject: Re: Skin Fibroblast Studies

We returned from clinic visits at Mayo Clinic last night. I did have the

opportunity to ask Dr. Whiteman specifically about the best way for families

to have formal skin fibroblast studies completed (if they are not patients

at Mayo Clinic). He provvided information sheets that I would be happy to

fax to anyone that is interested with the specific ordering information.

Mayo Clinic Lab runs Mitochondrial Respiratory Chain Complex Profiles on

skin fibroblasts. He said the ideal is to have the skin tissue sample taken

and grown locally, then to have the lab forward some of the dcells fo

ranalysis. That way the originating center has additional cells if more are

needed. else a sample can bne taken and shipped immediately (the order

codes are different). Then Mayo grows the cells and maintains the sample.

The challenge with this route is getting the cells to Mayo quickly enough

that they are viable for growth and analysis. He indicated that often the

cells are damaged in transit

and then Mayo has nothing or a suboptimal specimen to work with. If you are

interested in having me fax a copy of the ordering information from Mayo,

please send me a private post with your fax number. NOTE: A skin fibroblast

study may or may not be able to yield a diagnosis, but it is one study that

is far less invasive than a muscle biopsy. If the result is positive, you

may be spared a muscle biopsy. If it is negative, a muscle biopsy may still

be indicated if mitochondrial disease is suspected.

Generally cell samples are grown locally and split. He typically suggests

that cells be evaluated for both mitochondrial function and FOD related

analysis. My girls had their FOD analysis completed (and now being redone

with newer technology) at Children's Hospital of Wisconsin in Bill Rhead's

lab at Dr. Whiteman's request. Bill's lab is also supposed to be superb in

conducting analysis for carnitine related dysfunction as well.

The following is some of the general contact information for both the Mayo

Lab and Dr. Rhead's Lab.

Mayo Medical Laboratories (Rochester, MN)

Mayo Clinic Biochemical Genetics Laboratory

Phone: for Supplemental Diagnostic testing/Consultation

Fax:

Co-Directors: Dietrich Matern, MD, FACMG matern@... and Piero Rinaldo*,

MD, PhD, FACMG rinaldo@...

Website:http://www.mayoclinic.org/laboratorygenetics-rst/newbornscreening.ht

ml

Please note that approximately 35 disorders of fatty acid, amino acid, and

organic acid metabolism are included in the Supplemental Newborn Screen

(SNS). Your physician, hospital, or hospital laboratory must arrange for SNS

testing, including requesting screening cards and submitting samples to

Mayo. Mayo is unable to accept specimens directly from patients or families.

Mayo works directly with health care providers and laboratories who may

contact Mayo to arrange for SNS testing for their patients by calling

1-.

Metabolism Clinic Appointments for patients who wish to be seen in

consultation at Mayo Clinic

Whiteman* MD

Appointments:

Fax:

[Please note: Self-referrals are accepted at Mayo, however, we cannot make

specific clinical recommendations prior to evaluating you or your child. It

is very helpful to have your primary physician contact us and send a

referral summary and relevant laboratory reports. With this information, we

may be able to provide your physician with some guidance if necessary prior

to your evaluation.]

Labs that perform FOD Diagnostic Testing, Research and/or Consultation

[Note: Each Lab has their own procedures for diagnostic testing and which

specific FODs may be tested, researched, and/or clinically treated. Some

Labs only perform diagnostics, but others may offer onsite clinical

evaluation/treatment (and possibly emergency phone consultation) by

physicians experienced with FODs. Please have your physician contact the

specific Lab to determine what services they can provide. Please note that

professionals on both lists with an * next to their name have listed on a

Professional Questionnaire that families may contact them or their staff

directly via email and/or phone. If for some reason their policies change,

however, have your physician contact them for information.]

Medical College of Wisconsin - Fatty Acid Oxidation Disorder Lab (Milwaukee,

WI)

Rhead*, MD, PhD, Director

wrhead@...

Phone:

Website:

http://www.chw.org/display/PPF/DocID/9972/router.asp

FODs Addressed At This Site

Carnitine Transport Defect (Primary Carnitine Deficiency)

Carnitine-Acylcarnitine Translocase Deficiency (Translocase)

Carnitine Palmitoyl Transferase I & II (CPT I & II) Deficiency

Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency

Long Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency

Trifunctional Protein (TFP) Deficiency

Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency

2,4 Dienoyl-CoA Reductase Deficiency

Short Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency

Short Chain L-3-Hydroxyacyl-CoA Dehydrogenase (SCHAD) Deficiency

Electron Transfer Flavoprotein (ETF) Dehydrogenase Deficiency (GAII &

MADD)

3-Hydroxy-3 Methylglutaryl-CoA Lyase Deficiency (HMG)

Unclassified FODs

Joanne Kocourek (mom to , lies, and )

visit us at: http://www.caringbridge.org/il/annakris

[Guest guest]

Hi,

No easy answers but I will try....

I didn't, but two events pushed the decision

to biopsy both (vs one child) and later to rebiopsy.

First, we had a numebr of physicians that flatly

refused to treat one child based upon the other

child's positive pathology. Then, an influencial

physician refused to accept the positive pathology

from Atlanta, with differing pathology in the other

child, and called protective services, stating that

we, as parents, were " making the girls ill " . The

State basically demanded verification of diagnosis.

> When you say " different " , do you mean different

> complexes , or different microscopic

> changes (RRF present or not, abnormal numbers or

shapes of mitochondria)?> Different as in differing

defects, between all of the pathology reports, the

girls have defects or deficiencies in Complex I, III,

IV and ANT. Not only do they show different defects,

but different percentages of abnormality.

Yes, they

have modified both treatment and additional testing

based upon the differing results. And, more

complexing to some physicians, their response to the

different changes has been interesting. Many of the

changes have lead to at least short term improvement.

I could understand getting different numbers for %

> activity of a particular complex, but not having 0%

> and 95% activity for the same complex in different

tests (or is that possible?).> This is EXACTLY what

happened. One biopsy showeed 0% Complex I, the next

completely NORMAL Complex I, but a partial defect in

Complex III and IV. In our other daughter, one showed

a complete defect in ANT with normal everything else,

and the next study showed defects in Complex I, the

next defects in III and IV.

> (but how would more tests help?).> In all honestly

if it weren't for the problems with protective

services and challenging, ignorant physicians we would

have NEVER done any additional diagnostic testing. It

was the only way to keep our family together. Even

with all of the studies we have, some physicians still

continue to refute the diagnosis and/or deny the

presence of symptoms, necessary treatment, etc. At

this pooint, I do my level headed best to avoid those

docs and limit their visits to physicians who are

knowledgeable, understanding and willing to offer

supportive treatment and care. We ended up seeing

Dr., Whiteman and Dr. Cohen because that is the

combination of expertice that was required for us to

keep our family intact. They seem to have a good

working relationship and every consult note reconfirms

the diagnosis with supportive medical reports.

>

Joanne Kocourek (mom to , lies, and )

visit us at: http://www.caringbridge.org/il/annakris

[Guest guest]

RH

I have had two fresh biopsies with slightly different results. I had

the first in Atlanta and Dr. Shoffner was using the 5% level to be

positive. I had 0% in complex I. I had another while having another

surgery in Cleveland because they found something strange in my

sister's biopsy. The results there were actually very similar, but

since Dr. Hoppel uses higher values, it came as a I, II, and III

defect. Dr. Cohen feels it is probably due to the complex I defect,

but that wasn't a 0 like the first one. They also did not find the

same strange poor membrane integrity as they found in my sister. They

were done at the same lab and were looking for the same thing in mine.

They still haven't figured that part out to my knowledge.

laurie

> I think (at least) another mitoldie has gone through this issue with

> Child Protective Services accusing them of " Munchausen by Proxy " . As

> adults, many, if not all, of us have had doctors and/or family

> members tell us that we were " making up symptoms " or it's " all in our

> heads " .

>

> Thank you for answering my questions, and two comments. One is that

> if they test different areas, they might find different complex

> activities. Another thing is that Dr. Shoffner's office told us that

> if there is a problem in Complex I, it might " trickle down " to the

> other complexes. I show a " partial defect " in the activity of

> Complex III, but the lab results and report indicate that it is

> probably due to my lack of activity in Complex I.

>

> Once again, thanks for sharing the info

>

> Take care,

> RH

>

>

> > Hi,

> >

> > No easy answers but I will try....

> >

> test? > I didn't, but two events pushed the decision

> > to biopsy both (vs one child) and later to rebiopsy.

> > First, we had a numebr of physicians that flatly

> > refused to treat one child based upon the other

> > child's positive pathology. Then, an influencial

> > physician refused to accept the positive pathology

> > from Atlanta, with differing pathology in the other

> > child, and called protective services, stating that

> > we, as parents, were " making the girls ill " . The

> > State basically demanded verification of diagnosis.

> >

> > > When you say " different " , do you mean different

> > > complexes , or different microscopic

> > > changes (RRF present or not, abnormal numbers or

> > shapes of mitochondria)?> Different as in differing

> > defects, between all of the pathology reports, the

> > girls have defects or deficiencies in Complex I, III,

> > IV and ANT. Not only do they show different defects,

> > but different percentages of abnormality.

> >

> >

> treatment for either of your daughters? > Yes, they

> > have modified both treatment and additional testing

> > based upon the differing results. And, more

> > complexing to some physicians, their response to the

> > different changes has been interesting. Many of the

> > changes have lead to at least short term improvement.

> >

> > I could understand getting different numbers for %

> > > activity of a particular complex, but not having 0%

> > > and 95% activity for the same complex in different

> > tests (or is that possible?).> This is EXACTLY what

> > happened. One biopsy showeed 0% Complex I, the next

> > completely NORMAL Complex I, but a partial defect in

> > Complex III and IV. In our other daughter, one showed

> > a complete defect in ANT with normal everything else,

> > and the next study showed defects in Complex I, the

> > next defects in III and IV.

> >

> > > (but how would more tests help?).> In all honestly

> > if it weren't for the problems with protective

> > services and challenging, ignorant physicians we would

> > have NEVER done any additional diagnostic testing. It

> > was the only way to keep our family together. Even

> > with all of the studies we have, some physicians still

> > continue to refute the diagnosis and/or deny the

> > presence of symptoms, necessary treatment, etc. At

> > this pooint, I do my level headed best to avoid those

> > docs and limit their visits to physicians who are

> > knowledgeable, understanding and willing to offer

> > supportive treatment and care. We ended up seeing

> > Dr., Whiteman and Dr. Cohen because that is the

> > combination of expertice that was required for us to

> > keep our family intact. They seem to have a good

> > working relationship and every consult note reconfirms

> > the diagnosis with supportive medical reports.

> > >

> >

> >

> > Joanne Kocourek (mom to , lies, and )

> > visit us at: http://www.caringbridge.org/il/annakris

>

>

>

>

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