Re: muscle biopsy results pos CPT defiency??

[Guest guest]

Please take me off the directory e-mail list. I will be unavailable from

Nov. 20th due to a Travel Nursing job in California for 13 weeks. May God

Bless and have Happy Holidays.

Sincerely,

Betsy Stroup (Complex IV)

muscle biopsy results pos CPT defiency??

>

>

> Yesterday I went and picked up the results for my electron

> microscopy. I do not see my Dr until the 30th of Nov. Here are the

> results:

>

> The biopsy shows multifocal areas of myofirillar degeneration and

> lysis. There are scant accumulations of lipid droplets as well as

> mitochondria, both in the subsarcolemmal space as well as within the

> myoofibers. A variant of CPT deficiency should be considered.

>

>

> I am really trying to fiqure things out! A CPT deficiency sounds

> likely, especially with my 13 yo daughters symptoms. Food intake is

> such an important part of how she feels.

>

> I am wondering if this deficincy is secondary to something else. My

> biopsy which was flash frozen sat in the refrigerator over the

> weekend before anything was done with it!!!!It was sent out for

> electron transport chain and electron microscopy. The electron

> transport chain was normal, but I question the reliability, because

> of my family's symptoms. I have always wondered why I did not have a

> skin fibroblast done. Should this be done? Should I have a fresh

> biopsy done? I have so many questions!!!I had genetic blood tests

> for long and medium chain FODs. They were normal. Any suggestions

> would be greatly appreciated. I realy do not trust the mito Dr I

> have for justifiable reasons. I wish there was someone else I could

> see. I just want to make sure all of the bases are covered for the

> sake of my daughter. Also keep me in your prayers for my followup

> appointment. I am worried taht I would leave knowing less thatn when

> I came in. I am always so frustrated at these appointments. However

> my daughter sees an MD neurologist next month. Pediatric Drs are

> always so informative. Again any suggestions about anything would be

> greatly appreciated.

>

> Thanks Dawn Anich

>

> Dawn Anich

>

>

>

>

>

>

> 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]

Please take me off the directory e-mail list. I will be unavailable from

Nov. 20th due to a Travel Nursing job in California for 13 weeks. May God

Bless and have Happy Holidays.

Sincerely,

Betsy Stroup (Complex IV)

muscle biopsy results pos CPT defiency??

>

>

> Yesterday I went and picked up the results for my electron

> microscopy. I do not see my Dr until the 30th of Nov. Here are the

> results:

>

> The biopsy shows multifocal areas of myofirillar degeneration and

> lysis. There are scant accumulations of lipid droplets as well as

> mitochondria, both in the subsarcolemmal space as well as within the

> myoofibers. A variant of CPT deficiency should be considered.

>

>

> I am really trying to fiqure things out! A CPT deficiency sounds

> likely, especially with my 13 yo daughters symptoms. Food intake is

> such an important part of how she feels.

>

> I am wondering if this deficincy is secondary to something else. My

> biopsy which was flash frozen sat in the refrigerator over the

> weekend before anything was done with it!!!!It was sent out for

> electron transport chain and electron microscopy. The electron

> transport chain was normal, but I question the reliability, because

> of my family's symptoms. I have always wondered why I did not have a

> skin fibroblast done. Should this be done? Should I have a fresh

> biopsy done? I have so many questions!!!I had genetic blood tests

> for long and medium chain FODs. They were normal. Any suggestions

> would be greatly appreciated. I realy do not trust the mito Dr I

> have for justifiable reasons. I wish there was someone else I could

> see. I just want to make sure all of the bases are covered for the

> sake of my daughter. Also keep me in your prayers for my followup

> appointment. I am worried taht I would leave knowing less thatn when

> I came in. I am always so frustrated at these appointments. However

> my daughter sees an MD neurologist next month. Pediatric Drs are

> always so informative. Again any suggestions about anything would be

> greatly appreciated.

>

> Thanks Dawn Anich

>

> Dawn Anich

>

>

>

>

>

>

> 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]

Hi Dawn, I have CPT deficiency and co-edited a newsletter on that

subject. About 20% of patients with confirmed CPT deficiency have

lipid accumulation on muscle biopsy. Lipid accumulation can occur in

various other disorders and is not specific to CPT. I have not

looked at CPT literature for a year or two, but at the moment I

cannot recall any CPT case where myofibular degeneration and lysis

were found. That doesn't mean it hasn't happened. My case isn't

typical either. Yes, food is crucial in CPT deficiency. I have heard

from over 100 CPT deficiency patients all over the world, and many

of them figured out that carbohydrates help and fats make things

worse long before they had a diagnosis.

Yes, CPT deficiency can be secondary, but in those cases it is

usually a partial deficiency, not a severe deficiency. The range for

severe deficiencies that cause full-blown disease is usually 0 - 20%

residual activity. Partial deficiencies fall in the range of 30-50%.

Dr. GD Vladutiu can screen CPT patients for several of the more

common CPT mutations, but she only screens patients with confirmed

CPT, not suspected CPT.

CPT can be reliably diagnosed by frozen biopsy IF the tissue is

handled correctly and is sent to a reliable lab with meticulous

quality control protocols in place. In all my biopsies, the tissue

was snap frozen right in OR within a minute of removal. My doc

always dressed up in greens/mask and came to OR himself, research

assistant in tow, and personally oversaw the tissue handling. He

felt this was the only way he could be sure the results would be

valid.

If the tissue is compromised, some enzymes may begin to break down

and produce false " deficiencies " on the assays. While all enzymes do

not break down at the same rate, if many enzymes are deficient this

may be a red flag, and it would be wise to find other ways to

confirm the results. If only one enzyme is deficient and all other

assays are normal, then the results are more likely valid. This is

assuming the lab is performing the assay correctly. Lab errors on

assays do happen at commercial labs like Athena. Their technicians

simply don't have the necessary training and expertise. Research

labs provide the best results.

I'm not aware of any case where tissue mishandling has " disguised "

deficiencies by producing normal activity on the enzyme assays. But

that's not to say it hasn't happened, I'm just not aware of such a

result. Mishandling would typically cause enzymes to deteriorate and

lower the activity, not raise it.

Yes, CPT deficiency can be diagnosed by measuring CPT activity in

fibroblasts but the tissue of choice is muscle.

I hope your daughter's neuro can give you some guidance as hoped and

that you can eventually get some answers. If you need any more help

or info on CPT, let me know. I'll do what I can.

Take care,

Barbara

>

> Yesterday I went and picked up the results for my electron

> microscopy. I do not see my Dr until the 30th of Nov. Here are the

> results:

>

> The biopsy shows multifocal areas of myofirillar degeneration and

> lysis. There are scant accumulations of lipid droplets as well as

> mitochondria, both in the subsarcolemmal space as well as within

the

> myoofibers. A variant of CPT deficiency should be considered.

>

>

> I am really trying to fiqure things out! A CPT deficiency sounds

> likely, especially with my 13 yo daughters symptoms. Food intake

is

> such an important part of how she feels.

>

> I am wondering if this deficincy is secondary to something else.

My

> biopsy which was flash frozen sat in the refrigerator over the

> weekend before anything was done with it!!!!It was sent out for

> electron transport chain and electron microscopy. The electron

> transport chain was normal, but I question the reliability,

because

> of my family's symptoms. I have always wondered why I did not have

a

> skin fibroblast done. Should this be done? Should I have a fresh

> biopsy done? I have so many questions!!!I had genetic blood tests

> for long and medium chain FODs. They were normal. Any suggestions

> would be greatly appreciated. I realy do not trust the mito Dr I

> have for justifiable reasons. I wish there was someone else I

could

> see. I just want to make sure all of the bases are covered for the

> sake of my daughter. Also keep me in your prayers for my followup

> appointment. I am worried taht I would leave knowing less thatn

when

> I came in. I am always so frustrated at these appointments.

However

> my daughter sees an MD neurologist next month. Pediatric Drs are

> always so informative. Again any suggestions about anything would

be

> greatly appreciated.

>

> Thanks Dawn Anich

>

> Dawn Anich

[Guest guest]

---Barbara, Thanks for the valuable information. Dawn Anich

In , " wheatchild2 " wrote:

>

> Hi Dawn, I have CPT deficiency and co-edited a newsletter on that

> subject. About 20% of patients with confirmed CPT deficiency have

> lipid accumulation on muscle biopsy. Lipid accumulation can occur

in

> various other disorders and is not specific to CPT. I have not

> looked at CPT literature for a year or two, but at the moment I

> cannot recall any CPT case where myofibular degeneration and lysis

> were found. That doesn't mean it hasn't happened. My case isn't

> typical either. Yes, food is crucial in CPT deficiency. I have

heard

> from over 100 CPT deficiency patients all over the world, and many

> of them figured out that carbohydrates help and fats make things

> worse long before they had a diagnosis.

>

> Yes, CPT deficiency can be secondary, but in those cases it is

> usually a partial deficiency, not a severe deficiency. The range

for

> severe deficiencies that cause full-blown disease is usually 0 -

20%

> residual activity. Partial deficiencies fall in the range of 30-

50%.

> Dr. GD Vladutiu can screen CPT patients for several of the more

> common CPT mutations, but she only screens patients with confirmed

> CPT, not suspected CPT.

>

> CPT can be reliably diagnosed by frozen biopsy IF the tissue is

> handled correctly and is sent to a reliable lab with meticulous

> quality control protocols in place. In all my biopsies, the tissue

> was snap frozen right in OR within a minute of removal. My doc

> always dressed up in greens/mask and came to OR himself, research

> assistant in tow, and personally oversaw the tissue handling. He

> felt this was the only way he could be sure the results would be

> valid.

>

> If the tissue is compromised, some enzymes may begin to break down

> and produce false " deficiencies " on the assays. While all enzymes

do

> not break down at the same rate, if many enzymes are deficient

this

> may be a red flag, and it would be wise to find other ways to

> confirm the results. If only one enzyme is deficient and all other

> assays are normal, then the results are more likely valid. This is

> assuming the lab is performing the assay correctly. Lab errors on

> assays do happen at commercial labs like Athena. Their technicians

> simply don't have the necessary training and expertise. Research

> labs provide the best results.

>

> I'm not aware of any case where tissue mishandling has " disguised "

> deficiencies by producing normal activity on the enzyme assays.

But

> that's not to say it hasn't happened, I'm just not aware of such a

> result. Mishandling would typically cause enzymes to deteriorate

and

> lower the activity, not raise it.

>

> Yes, CPT deficiency can be diagnosed by measuring CPT activity in

> fibroblasts but the tissue of choice is muscle.

>

> I hope your daughter's neuro can give you some guidance as hoped

and

> that you can eventually get some answers. If you need any more

help

> or info on CPT, let me know. I'll do what I can.

>

> Take care,

> Barbara

>

>

>

>

>

>

> >

> > Yesterday I went and picked up the results for my electron

> > microscopy. I do not see my Dr until the 30th of Nov. Here are

the

> > results:

> >

> > The biopsy shows multifocal areas of myofirillar degeneration

and

> > lysis. There are scant accumulations of lipid droplets as well

as

> > mitochondria, both in the subsarcolemmal space as well as within

> the

> > myoofibers. A variant of CPT deficiency should be considered.

> >

> >

> > I am really trying to fiqure things out! A CPT deficiency sounds

> > likely, especially with my 13 yo daughters symptoms. Food intake

> is

> > such an important part of how she feels.

> >

> > I am wondering if this deficincy is secondary to something else.

> My

> > biopsy which was flash frozen sat in the refrigerator over the

> > weekend before anything was done with it!!!!It was sent out for

> > electron transport chain and electron microscopy. The electron

> > transport chain was normal, but I question the reliability,

> because

> > of my family's symptoms. I have always wondered why I did not

have

> a

> > skin fibroblast done. Should this be done? Should I have a fresh

> > biopsy done? I have so many questions!!!I had genetic blood

tests

> > for long and medium chain FODs. They were normal. Any

suggestions

> > would be greatly appreciated. I realy do not trust the mito Dr I

> > have for justifiable reasons. I wish there was someone else I

> could

> > see. I just want to make sure all of the bases are covered for

the

> > sake of my daughter. Also keep me in your prayers for my

followup

> > appointment. I am worried taht I would leave knowing less thatn

> when

> > I came in. I am always so frustrated at these appointments.

> However

> > my daughter sees an MD neurologist next month. Pediatric Drs are

> > always so informative. Again any suggestions about anything

would

> be

> > greatly appreciated.

> >

> > Thanks Dawn Anich

> >

> > Dawn Anich

[Guest guest]

---Barbara, Thanks for the valuable information. Dawn Anich

In , " wheatchild2 " wrote:

>

> Hi Dawn, I have CPT deficiency and co-edited a newsletter on that

> subject. About 20% of patients with confirmed CPT deficiency have

> lipid accumulation on muscle biopsy. Lipid accumulation can occur

in

> various other disorders and is not specific to CPT. I have not

> looked at CPT literature for a year or two, but at the moment I

> cannot recall any CPT case where myofibular degeneration and lysis

> were found. That doesn't mean it hasn't happened. My case isn't

> typical either. Yes, food is crucial in CPT deficiency. I have

heard

> from over 100 CPT deficiency patients all over the world, and many

> of them figured out that carbohydrates help and fats make things

> worse long before they had a diagnosis.

>

> Yes, CPT deficiency can be secondary, but in those cases it is

> usually a partial deficiency, not a severe deficiency. The range

for

> severe deficiencies that cause full-blown disease is usually 0 -

20%

> residual activity. Partial deficiencies fall in the range of 30-

50%.

> Dr. GD Vladutiu can screen CPT patients for several of the more

> common CPT mutations, but she only screens patients with confirmed

> CPT, not suspected CPT.

>

> CPT can be reliably diagnosed by frozen biopsy IF the tissue is

> handled correctly and is sent to a reliable lab with meticulous

> quality control protocols in place. In all my biopsies, the tissue

> was snap frozen right in OR within a minute of removal. My doc

> always dressed up in greens/mask and came to OR himself, research

> assistant in tow, and personally oversaw the tissue handling. He

> felt this was the only way he could be sure the results would be

> valid.

>

> If the tissue is compromised, some enzymes may begin to break down

> and produce false " deficiencies " on the assays. While all enzymes

do

> not break down at the same rate, if many enzymes are deficient

this

> may be a red flag, and it would be wise to find other ways to

> confirm the results. If only one enzyme is deficient and all other

> assays are normal, then the results are more likely valid. This is

> assuming the lab is performing the assay correctly. Lab errors on

> assays do happen at commercial labs like Athena. Their technicians

> simply don't have the necessary training and expertise. Research

> labs provide the best results.

>

> I'm not aware of any case where tissue mishandling has " disguised "

> deficiencies by producing normal activity on the enzyme assays.

But

> that's not to say it hasn't happened, I'm just not aware of such a

> result. Mishandling would typically cause enzymes to deteriorate

and

> lower the activity, not raise it.

>

> Yes, CPT deficiency can be diagnosed by measuring CPT activity in

> fibroblasts but the tissue of choice is muscle.

>

> I hope your daughter's neuro can give you some guidance as hoped

and

> that you can eventually get some answers. If you need any more

help

> or info on CPT, let me know. I'll do what I can.

>

> Take care,

> Barbara

>

>

>

>

>

>

> >

> > Yesterday I went and picked up the results for my electron

> > microscopy. I do not see my Dr until the 30th of Nov. Here are

the

> > results:

> >

> > The biopsy shows multifocal areas of myofirillar degeneration

and

> > lysis. There are scant accumulations of lipid droplets as well

as

> > mitochondria, both in the subsarcolemmal space as well as within

> the

> > myoofibers. A variant of CPT deficiency should be considered.

> >

> >

> > I am really trying to fiqure things out! A CPT deficiency sounds

> > likely, especially with my 13 yo daughters symptoms. Food intake

> is

> > such an important part of how she feels.

> >

> > I am wondering if this deficincy is secondary to something else.

> My

> > biopsy which was flash frozen sat in the refrigerator over the

> > weekend before anything was done with it!!!!It was sent out for

> > electron transport chain and electron microscopy. The electron

> > transport chain was normal, but I question the reliability,

> because

> > of my family's symptoms. I have always wondered why I did not

have

> a

> > skin fibroblast done. Should this be done? Should I have a fresh

> > biopsy done? I have so many questions!!!I had genetic blood

tests

> > for long and medium chain FODs. They were normal. Any

suggestions

> > would be greatly appreciated. I realy do not trust the mito Dr I

> > have for justifiable reasons. I wish there was someone else I

> could

> > see. I just want to make sure all of the bases are covered for

the

> > sake of my daughter. Also keep me in your prayers for my

followup

> > appointment. I am worried taht I would leave knowing less thatn

> when

> > I came in. I am always so frustrated at these appointments.

> However

> > my daughter sees an MD neurologist next month. Pediatric Drs are

> > always so informative. Again any suggestions about anything

would

> be

> > greatly appreciated.

> >

> > Thanks Dawn Anich

> >

> > Dawn Anich

[Guest guest]

---Thanks again Barbara for taking the time to post so much

information,. I had a chance to read a lot of articles in the spiral

notebook. I just don't ssem to fit into the CPT dx. I do have a lot

of the symptoms, but I have other issues that do not fit. Also, I

don't have dark urine toher than when I am dehydrated..then it is

brownish yellow. All of my blood test other than electrolyes have

been normal. But I have had most of the test when I am feeling well.

With the knowledge of CPT at least I know what to look for and won't

hesitate on an ER visit. I will know what to tell them what to test

for. take care! Dawn A

In , " wheatchild2 " wrote:

>

> Hi Dawn, I have CPT deficiency and co-edited a newsletter on that

> subject. About 20% of patients with confirmed CPT deficiency have

> lipid accumulation on muscle biopsy. Lipid accumulation can occur

in

> various other disorders and is not specific to CPT. I have not

> looked at CPT literature for a year or two, but at the moment I

> cannot recall any CPT case where myofibular degeneration and lysis

> were found. That doesn't mean it hasn't happened. My case isn't

> typical either. Yes, food is crucial in CPT deficiency. I have

heard

> from over 100 CPT deficiency patients all over the world, and many

> of them figured out that carbohydrates help and fats make things

> worse long before they had a diagnosis.

>

> Yes, CPT deficiency can be secondary, but in those cases it is

> usually a partial deficiency, not a severe deficiency. The range

for

> severe deficiencies that cause full-blown disease is usually 0 -

20%

> residual activity. Partial deficiencies fall in the range of 30-

50%.

> Dr. GD Vladutiu can screen CPT patients for several of the more

> common CPT mutations, but she only screens patients with confirmed

> CPT, not suspected CPT.

>

> CPT can be reliably diagnosed by frozen biopsy IF the tissue is

> handled correctly and is sent to a reliable lab with meticulous

> quality control protocols in place. In all my biopsies, the tissue

> was snap frozen right in OR within a minute of removal. My doc

> always dressed up in greens/mask and came to OR himself, research

> assistant in tow, and personally oversaw the tissue handling. He

> felt this was the only way he could be sure the results would be

> valid.

>

> If the tissue is compromised, some enzymes may begin to break down

> and produce false " deficiencies " on the assays. While all enzymes

do

> not break down at the same rate, if many enzymes are deficient

this

> may be a red flag, and it would be wise to find other ways to

> confirm the results. If only one enzyme is deficient and all other

> assays are normal, then the results are more likely valid. This is

> assuming the lab is performing the assay correctly. Lab errors on

> assays do happen at commercial labs like Athena. Their technicians

> simply don't have the necessary training and expertise. Research

> labs provide the best results.

>

> I'm not aware of any case where tissue mishandling has " disguised "

> deficiencies by producing normal activity on the enzyme assays.

But

> that's not to say it hasn't happened, I'm just not aware of such a

> result. Mishandling would typically cause enzymes to deteriorate

and

> lower the activity, not raise it.

>

> Yes, CPT deficiency can be diagnosed by measuring CPT activity in

> fibroblasts but the tissue of choice is muscle.

>

> I hope your daughter's neuro can give you some guidance as hoped

and

> that you can eventually get some answers. If you need any more

help

> or info on CPT, let me know. I'll do what I can.

>

> Take care,

> Barbara

>

>

>

>

>

>

> >

> > Yesterday I went and picked up the results for my electron

> > microscopy. I do not see my Dr until the 30th of Nov. Here are

the

> > results:

> >

> > The biopsy shows multifocal areas of myofirillar degeneration

and

> > lysis. There are scant accumulations of lipid droplets as well

as

> > mitochondria, both in the subsarcolemmal space as well as within

> the

> > myoofibers. A variant of CPT deficiency should be considered.

> >

> >

> > I am really trying to fiqure things out! A CPT deficiency sounds

> > likely, especially with my 13 yo daughters symptoms. Food intake

> is

> > such an important part of how she feels.

> >

> > I am wondering if this deficincy is secondary to something else.

> My

> > biopsy which was flash frozen sat in the refrigerator over the

> > weekend before anything was done with it!!!!It was sent out for

> > electron transport chain and electron microscopy. The electron

> > transport chain was normal, but I question the reliability,

> because

> > of my family's symptoms. I have always wondered why I did not

have

> a

> > skin fibroblast done. Should this be done? Should I have a fresh

> > biopsy done? I have so many questions!!!I had genetic blood

tests

> > for long and medium chain FODs. They were normal. Any

suggestions

> > would be greatly appreciated. I realy do not trust the mito Dr I

> > have for justifiable reasons. I wish there was someone else I

> could

> > see. I just want to make sure all of the bases are covered for

the

> > sake of my daughter. Also keep me in your prayers for my

followup

> > appointment. I am worried taht I would leave knowing less thatn

> when

> > I came in. I am always so frustrated at these appointments.

> However

> > my daughter sees an MD neurologist next month. Pediatric Drs are

> > always so informative. Again any suggestions about anything

would

> be

> > greatly appreciated.

> >

> > Thanks Dawn Anich

> >

> > Dawn Anich

[Guest guest]

Dawn,

I don't have any information for you, but wanted to let you know

that I will be thinking of you when you see the neurologist. I know it

has been hard to continue to see her. I hope she is more open this time.

Smiles,

a

On Tue, 16 Nov 2004 16:12:12 -0000 " dawnanich " manich@...>

writes:

Yesterday I went and picked up the results for my electron

microscopy. I do not see my Dr until the 30th of Nov. Here are the

results:

The biopsy shows multifocal areas of myofirillar degeneration and

lysis. There are scant accumulations of lipid droplets as well as

mitochondria, both in the subsarcolemmal space as well as within the

myoofibers. A variant of CPT deficiency should be considered.

I am really trying to fiqure things out! A CPT deficiency sounds

likely, especially with my 13 yo daughters symptoms. Food intake is

such an important part of how she feels.

I am wondering if this deficincy is secondary to something else. My

biopsy which was flash frozen sat in the refrigerator over the

weekend before anything was done with it!!!!It was sent out for

electron transport chain and electron microscopy. The electron

transport chain was normal, but I question the reliability, because

of my family's symptoms. I have always wondered why I did not have a

skin fibroblast done. Should this be done? Should I have a fresh

biopsy done? I have so many questions!!!I had genetic blood tests

for long and medium chain FODs. They were normal. Any suggestions

would be greatly appreciated. I realy do not trust the mito Dr I

have for justifiable reasons. I wish there was someone else I could

see. I just want to make sure all of the bases are covered for the

sake of my daughter. Also keep me in your prayers for my followup

appointment. I am worried taht I would leave knowing less thatn when

I came in. I am always so frustrated at these appointments. However

my daughter sees an MD neurologist next month. Pediatric Drs are

always so informative. Again any suggestions about anything would be

greatly appreciated.

Thanks Dawn Anich

Dawn Anich

[Guest guest]

Dawn, I've never had dark urine either, but I do have confirmed CPT

deficiency at 10% of normal. But I also have mito and most of my

symptoms are thought to be caused by the latter, though I'm told

that the presence of CPT makes things worse. There are some cases of

women with CPT who have generalized fatigue and muscle pain without

episodes of myoglobinuria and rhabdomyolysis. Mostly depends on how

active the person is. Those who exercise vigorously usually trigger

the severe episodes, while those who are less active may just have

vague aches and pains and fatigue. Of course, lots of disorders can

cause similar symptoms. I hope you can eventually get some answers.

I understand how important this is, especially when your children

are affected. It was the thought of my son having to struggle along

without a diagnosis that kept me searching for answers. I had to do

it for him.

Take care,

B

> > >

> > > Yesterday I went and picked up the results for my electron

> > > microscopy. I do not see my Dr until the 30th of Nov. Here are

> the

> > > results:

> > >

> > > The biopsy shows multifocal areas of myofirillar degeneration

> and

> > > lysis. There are scant accumulations of lipid droplets as well

> as

> > > mitochondria, both in the subsarcolemmal space as well as

within

> > the

> > > myoofibers. A variant of CPT deficiency should be considered.

> > >

> > >

> > > I am really trying to fiqure things out! A CPT deficiency

sounds

> > > likely, especially with my 13 yo daughters symptoms. Food

intake

> > is

> > > such an important part of how she feels.

> > >

> > > I am wondering if this deficincy is secondary to something

else.

> > My

> > > biopsy which was flash frozen sat in the refrigerator over the

> > > weekend before anything was done with it!!!!It was sent out

for

> > > electron transport chain and electron microscopy. The electron

> > > transport chain was normal, but I question the reliability,

> > because

> > > of my family's symptoms. I have always wondered why I did not

> have

> > a

> > > skin fibroblast done. Should this be done? Should I have a

fresh

> > > biopsy done? I have so many questions!!!I had genetic blood

> tests

> > > for long and medium chain FODs. They were normal. Any

> suggestions

> > > would be greatly appreciated. I realy do not trust the mito Dr

I

> > > have for justifiable reasons. I wish there was someone else I

> > could

> > > see. I just want to make sure all of the bases are covered for

> the

> > > sake of my daughter. Also keep me in your prayers for my

> followup

> > > appointment. I am worried taht I would leave knowing less

thatn

> > when

> > > I came in. I am always so frustrated at these appointments.

> > However

> > > my daughter sees an MD neurologist next month. Pediatric Drs

are

> > > always so informative. Again any suggestions about anything

> would

> > be

> > > greatly appreciated.

> > >

> > > Thanks Dawn Anich

> > >

> > > Dawn Anich

[Guest guest]

--- Hi Barbara, It is amazing how much drive mothers have when it

comes to there children. If I have CPT, like you, I probably have a

mito problem too. I would write more, but feel too tired to sit any

longer. Time for a nap!

Best WIshes, Dawn

In , " wheatchild2 " wrote:

>

> Dawn, I've never had dark urine either, but I do have confirmed

CPT

> deficiency at 10% of normal. But I also have mito and most of my

> symptoms are thought to be caused by the latter, though I'm told

> that the presence of CPT makes things worse. There are some cases

of

> women with CPT who have generalized fatigue and muscle pain

without

> episodes of myoglobinuria and rhabdomyolysis. Mostly depends on

how

> active the person is. Those who exercise vigorously usually

trigger

> the severe episodes, while those who are less active may just have

> vague aches and pains and fatigue. Of course, lots of disorders

can

> cause similar symptoms. I hope you can eventually get some

answers.

> I understand how important this is, especially when your children

> are affected. It was the thought of my son having to struggle

along

> without a diagnosis that kept me searching for answers. I had to

do

> it for him.

>

> Take care,

> B

>

>

> > > >

> > > > Yesterday I went and picked up the results for my electron

> > > > microscopy. I do not see my Dr until the 30th of Nov. Here

are

> > the

> > > > results:

> > > >

> > > > The biopsy shows multifocal areas of myofirillar

degeneration

> > and

> > > > lysis. There are scant accumulations of lipid droplets as

well

> > as

> > > > mitochondria, both in the subsarcolemmal space as well as

> within

> > > the

> > > > myoofibers. A variant of CPT deficiency should be considered.

> > > >

> > > >

> > > > I am really trying to fiqure things out! A CPT deficiency

> sounds

> > > > likely, especially with my 13 yo daughters symptoms. Food

> intake

> > > is

> > > > such an important part of how she feels.

> > > >

> > > > I am wondering if this deficincy is secondary to something

> else.

> > > My

> > > > biopsy which was flash frozen sat in the refrigerator over

the

> > > > weekend before anything was done with it!!!!It was sent out

> for

> > > > electron transport chain and electron microscopy. The

electron

> > > > transport chain was normal, but I question the reliability,

> > > because

> > > > of my family's symptoms. I have always wondered why I did

not

> > have

> > > a

> > > > skin fibroblast done. Should this be done? Should I have a

> fresh

> > > > biopsy done? I have so many questions!!!I had genetic blood

> > tests

> > > > for long and medium chain FODs. They were normal. Any

> > suggestions

> > > > would be greatly appreciated. I realy do not trust the mito

Dr

> I

> > > > have for justifiable reasons. I wish there was someone else

I

> > > could

> > > > see. I just want to make sure all of the bases are covered

for

> > the

> > > > sake of my daughter. Also keep me in your prayers for my

> > followup

> > > > appointment. I am worried taht I would leave knowing less

> thatn

> > > when

> > > > I came in. I am always so frustrated at these appointments.

> > > However

> > > > my daughter sees an MD neurologist next month. Pediatric Drs

> are

> > > > always so informative. Again any suggestions about anything

> > would

> > > be

> > > > greatly appreciated.

> > > >

> > > > Thanks Dawn Anich

> > > >

> > > > Dawn Anich