What is the benefit of actual diagnosis

[Guest guest]

I think I would want a good clinical picture that there was still a possibility that he had it. Maybe try him off the cocktail and see how it goes and then if he is still asymptomatic you might not worry about it. I think the benefit of having a diagnosis is getting services from school, medical and support groups/systems. I also think its can give you a little more respect when you are seeing something that other parent' might miss b/c you know your child has the deck stacked against him...meaning if you take him in because are seeing the telltale signs of dehydration but he isn't actually acidotic yet, it will get you a lot further if you have a mito dx and tell them this is preventative then if you go in and don't have anything to back it up. Does that make sense?

deb...mom to three great kids and wife to one amazing guy!http://www.lifeofloveproject.org/http://www.debwells.com/

[Guest guest]

I think I would want a good clinical picture that there was still a possibility that he had it. Maybe try him off the cocktail and see how it goes and then if he is still asymptomatic you might not worry about it. I think the benefit of having a diagnosis is getting services from school, medical and support groups/systems. I also think its can give you a little more respect when you are seeing something that other parent' might miss b/c you know your child has the deck stacked against him...meaning if you take him in because are seeing the telltale signs of dehydration but he isn't actually acidotic yet, it will get you a lot further if you have a mito dx and tell them this is preventative then if you go in and don't have anything to back it up. Does that make sense?

deb...mom to three great kids and wife to one amazing guy!http://www.lifeofloveproject.org/http://www.debwells.com/

[Guest guest]

Hi everyone. I am just wondering what the benefit of an actual

diagnosis is if the treatment does not change with diagnosis (mito

coctail is given either way) I certainly understand the necessity if

you are trying to rule out other diseases or want to use the

information to decide whether to have another child, but beyond that

is there a benefit?

I am also interested to hear whether anyone has information about

skin biopsys and why they are not considered conclusive. Also, what

is the debate about fresh/frozen biopsy's?

The reason for all the questions is that we have a 3 year old who had

a stroke at birth and who was " tentatively " diagnosed as being

complex III and IV deficient via skin biopsy. He appears to be

nonsymptomatic at this time and is one somewhat of a mito coctail. I

had read somewhere (I can't remember where) that injected anesthesia

to numb the biopsy site can cause skewed results and he did have

that. I wonder (and of course hope) if the skin biopsy results were

wrong and wonder if there is any valid reason, beyond just knowing,

to go ahead with a muscle biopsy. Thanks!

Beth

[Guest guest]

Hi everyone. I am just wondering what the benefit of an actual

diagnosis is if the treatment does not change with diagnosis (mito

coctail is given either way) I certainly understand the necessity if

you are trying to rule out other diseases or want to use the

information to decide whether to have another child, but beyond that

is there a benefit?

I am also interested to hear whether anyone has information about

skin biopsys and why they are not considered conclusive. Also, what

is the debate about fresh/frozen biopsy's?

The reason for all the questions is that we have a 3 year old who had

a stroke at birth and who was " tentatively " diagnosed as being

complex III and IV deficient via skin biopsy. He appears to be

nonsymptomatic at this time and is one somewhat of a mito coctail. I

had read somewhere (I can't remember where) that injected anesthesia

to numb the biopsy site can cause skewed results and he did have

that. I wonder (and of course hope) if the skin biopsy results were

wrong and wonder if there is any valid reason, beyond just knowing,

to go ahead with a muscle biopsy. Thanks!

Beth

[Guest guest]

Hmm. It is possible to get specific information from the biopsy.

For example, Sheldon's frozen muscle showed PDH deficiency. Because of

this we have more information like that he should be on B1 and a

high-fat diet instead of carbs. There's a geneticist at Albany Med.

who diagnosed Sheldon. Can't think of other reasons right now.

Hi everyone. I am just

wondering what the benefit of an actual

diagnosis is if the treatment does not change with diagnosis (mito

coctail is given either way) I certainly understand the

necessity if

you are trying to rule out other diseases or want to use the

information to decide whether to have another child, but beyond

that

is there a benefit?

I am also interested to hear whether anyone has information about

skin biopsys and why they are not considered conclusive. Also,

what

is the debate about fresh/frozen biopsy's?

The reason for all the questions is that we have a 3 year old who

had

a stroke at birth and who was " tentatively " diagnosed as

being

complex III and IV deficient via skin biopsy. He appears to

be

nonsymptomatic at this time and is one somewhat of a mito coctail.

I

had read somewhere (I can't remember where) that injected

anesthesia

to numb the biopsy site can cause skewed results and he did have

that. I wonder (and of course hope) if the skin biopsy results

were

wrong and wonder if there is any valid reason, beyond just

knowing,

to go ahead with a muscle biopsy. Thanks!

Beth

Please contact mito-owner with any problems or

questions.

Yahoo!

Groups Sponsor

ADVERTISEMENT

[Guest guest]

Hmm. It is possible to get specific information from the biopsy.

For example, Sheldon's frozen muscle showed PDH deficiency. Because of

this we have more information like that he should be on B1 and a

high-fat diet instead of carbs. There's a geneticist at Albany Med.

who diagnosed Sheldon. Can't think of other reasons right now.

Hi everyone. I am just

wondering what the benefit of an actual

diagnosis is if the treatment does not change with diagnosis (mito

coctail is given either way) I certainly understand the

necessity if

you are trying to rule out other diseases or want to use the

information to decide whether to have another child, but beyond

that

is there a benefit?

I am also interested to hear whether anyone has information about

skin biopsys and why they are not considered conclusive. Also,

what

is the debate about fresh/frozen biopsy's?

The reason for all the questions is that we have a 3 year old who

had

a stroke at birth and who was " tentatively " diagnosed as

being

complex III and IV deficient via skin biopsy. He appears to

be

nonsymptomatic at this time and is one somewhat of a mito coctail.

I

had read somewhere (I can't remember where) that injected

anesthesia

to numb the biopsy site can cause skewed results and he did have

that. I wonder (and of course hope) if the skin biopsy results

were

wrong and wonder if there is any valid reason, beyond just

knowing,

to go ahead with a muscle biopsy. Thanks!

Beth

Please contact mito-owner with any problems or

questions.

Yahoo!

Groups Sponsor

ADVERTISEMENT

[Guest guest]

Ditto what Deb said. The better informed you are, the better decisions you can make for your child, and the better you are able to advocate for your child when necessary. VisibleWorship@... wrote:

I think I would want a good clinical picture that there was still a possibility that he had it. Maybe try him off the cocktail and see how it goes and then if he is still asymptomatic you might not worry about it. I think the benefit of having a diagnosis is getting services from school, medical and support groups/systems. I also think its can give you a little more respect when you are seeing something that other parent' might miss b/c you know your child has the deck stacked against him...meaning if you take him in because are seeing the telltale signs of dehydration but he isn't actually acidotic yet, it will get you a lot further if you have a mito dx and tell them this is preventative then if you go in and don't have anything to back it up. Does that make sense?

deb...mom to three great kids and wife to one amazing guy!http://www.lifeofloveproject.org/http://www.debwells.com/Please contact mito-owner with any problems or questions. __________________________________________________

[Guest guest]

Ditto what Deb said. The better informed you are, the better decisions you can make for your child, and the better you are able to advocate for your child when necessary. VisibleWorship@... wrote:

I think I would want a good clinical picture that there was still a possibility that he had it. Maybe try him off the cocktail and see how it goes and then if he is still asymptomatic you might not worry about it. I think the benefit of having a diagnosis is getting services from school, medical and support groups/systems. I also think its can give you a little more respect when you are seeing something that other parent' might miss b/c you know your child has the deck stacked against him...meaning if you take him in because are seeing the telltale signs of dehydration but he isn't actually acidotic yet, it will get you a lot further if you have a mito dx and tell them this is preventative then if you go in and don't have anything to back it up. Does that make sense?

deb...mom to three great kids and wife to one amazing guy!http://www.lifeofloveproject.org/http://www.debwells.com/Please contact mito-owner with any problems or questions. __________________________________________________

[Guest guest]

The benefit of knowing is more for your doctors than for you. But.....without a

diagnosis your child's symptoms could be dismissed or call psychiatric in

nature. It can help you access school services. It might help you access state

and /or federal programs (ie Beckett type medicaid waivers). It can also

help you and your child decide about fertility issues. For example, mito is

passed for mother to child--do you want to risk having another mito child or

does you mito child want to risk having an even more affected mito child.

My children are older. My son is 16 and his problems are often dismissed as

psychiatric in nature. That is not fair to this child and prevents him from

getting

the care he needs and deserves.

[Guest guest]

The benefit of knowing is more for your doctors than for you. But.....without a

diagnosis your child's symptoms could be dismissed or call psychiatric in

nature. It can help you access school services. It might help you access state

and /or federal programs (ie Beckett type medicaid waivers). It can also

help you and your child decide about fertility issues. For example, mito is

passed for mother to child--do you want to risk having another mito child or

does you mito child want to risk having an even more affected mito child.

My children are older. My son is 16 and his problems are often dismissed as

psychiatric in nature. That is not fair to this child and prevents him from

getting

the care he needs and deserves.

[Guest guest]

Beth,

I do have to agree that a diagnosis can help with the treatment but

most treatments are a try and see basis anyway. I have experianced

quite the oppisite as far as ER care. I have met very few that know

anything right off the cuff about My son's illness. Most of the time

our trips are planned and our doctors have informed the ER of

everything they need to know and our time there is spent educating

them. I think it is a must for us to share. You just never know what

can help the next child.

I don't know if I agree with the rest of the folks about it being

only for the benefit of the Doctors. In my case Elijah my 22month

old has Leigh's Disease. Leigh's Disease usually claims the child

between 6mths and two years of life. There are those that do live

past that, because of the predicability of Mito illnesses they can't

ever tell you life expectancy. As far as a diagnosis we know my son

has Leigh's because his MRI spoke textbook Leigh's at 5 1/2 months

old. We have been very lucky he has been with us this long. We

wanted to know the cause but still to this date there isn't one. It

is suggested that it be mito. After a very difficult decision we

choose to do a skin biopsy as well as a muscle biopsy. Neither came

back with any irregular results.We struggled because why should my

little guy have to go through the test if it wouldn't matter to him.

When I think about further testing I think about my three little

nieces and their (?)children. My husband and I may never try again

but I don't think I stand it if they had a child with Leigh's and we

could have helped them to know about their genetics. If I am a

carrier but not affected they might be to. They are the main reason

I want a diagnosis. Unfortunatly we may never know. We only know

that it is distroying his brain quickly.

In some cases it would help with the treatment for a child but in

some cases(ours) knowing wouldn't change my son's care. My mother

lost a child (my brother) at 4years old. After seeing Eli's illness

we suspect that it might have been the same illness. We will never

know. Most of his medical records are gone. The ones we have gotten

to read are almost a carbon copy of Eli's first few months only my

brother was much stronger for much longer. I have read way too many

stories of parents who have one child with Leigh's and only find out

after they are pregnant with their second. Now they are dealing with

all the needs of two terminally ill children. We will not chance

having another child unless we have a diagnosis. I would rather

adopt. For now I love my little angel with everything I have. He is

a blessing even through all the hardships.

Our only option left at this time is to run test at the autopsy. Now

that is a horrible thought but it remains our truth. My husband and

I don't think that when my son passes we can sacrifice our time with

him. The samples would have to be taken within two hours of death.

To me nothing is worth those last moments with my little bear.

http://www.caringbridge.org/co/elijahkurtz

I do have to add that most mito are not as extreme as Leigh's and I

don't mean to affend any of you that have fairly healthy children

that do LIVE a happy life. With my little Eli we are just doing

everything in our power to keep him in comfort. God really has the

control.

God bless all of you who love your children. Sometimes that is the

best medicine.

Ann Mommy to my little Bear Elijah (22months) Leigh's disease

http://www.caringbridge.org/co/elijahkurtz

>

> Hi everyone. I am just wondering what the benefit of an actual

> diagnosis is if the treatment does not change with diagnosis (mito

> coctail is given either way) I certainly understand the necessity

if

> you are trying to rule out other diseases or want to use the

> information to decide whether to have another child, but beyond

that

> is there a benefit?

>

> I am also interested to hear whether anyone has information about

> skin biopsys and why they are not considered conclusive. Also,

what

> is the debate about fresh/frozen biopsy's?

>

> The reason for all the questions is that we have a 3 year old who

had

> a stroke at birth and who was " tentatively " diagnosed as being

> complex III and IV deficient via skin biopsy. He appears to be

> nonsymptomatic at this time and is one somewhat of a mito

coctail. I

> had read somewhere (I can't remember where) that injected

anesthesia

> to numb the biopsy site can cause skewed results and he did have

> that. I wonder (and of course hope) if the skin biopsy results

were

> wrong and wonder if there is any valid reason, beyond just

knowing,

> to go ahead with a muscle biopsy. Thanks!

>

> Beth

[Guest guest]

Beth,

I do have to agree that a diagnosis can help with the treatment but

most treatments are a try and see basis anyway. I have experianced

quite the oppisite as far as ER care. I have met very few that know

anything right off the cuff about My son's illness. Most of the time

our trips are planned and our doctors have informed the ER of

everything they need to know and our time there is spent educating

them. I think it is a must for us to share. You just never know what

can help the next child.

I don't know if I agree with the rest of the folks about it being

only for the benefit of the Doctors. In my case Elijah my 22month

old has Leigh's Disease. Leigh's Disease usually claims the child

between 6mths and two years of life. There are those that do live

past that, because of the predicability of Mito illnesses they can't

ever tell you life expectancy. As far as a diagnosis we know my son

has Leigh's because his MRI spoke textbook Leigh's at 5 1/2 months

old. We have been very lucky he has been with us this long. We

wanted to know the cause but still to this date there isn't one. It

is suggested that it be mito. After a very difficult decision we

choose to do a skin biopsy as well as a muscle biopsy. Neither came

back with any irregular results.We struggled because why should my

little guy have to go through the test if it wouldn't matter to him.

When I think about further testing I think about my three little

nieces and their (?)children. My husband and I may never try again

but I don't think I stand it if they had a child with Leigh's and we

could have helped them to know about their genetics. If I am a

carrier but not affected they might be to. They are the main reason

I want a diagnosis. Unfortunatly we may never know. We only know

that it is distroying his brain quickly.

In some cases it would help with the treatment for a child but in

some cases(ours) knowing wouldn't change my son's care. My mother

lost a child (my brother) at 4years old. After seeing Eli's illness

we suspect that it might have been the same illness. We will never

know. Most of his medical records are gone. The ones we have gotten

to read are almost a carbon copy of Eli's first few months only my

brother was much stronger for much longer. I have read way too many

stories of parents who have one child with Leigh's and only find out

after they are pregnant with their second. Now they are dealing with

all the needs of two terminally ill children. We will not chance

having another child unless we have a diagnosis. I would rather

adopt. For now I love my little angel with everything I have. He is

a blessing even through all the hardships.

Our only option left at this time is to run test at the autopsy. Now

that is a horrible thought but it remains our truth. My husband and

I don't think that when my son passes we can sacrifice our time with

him. The samples would have to be taken within two hours of death.

To me nothing is worth those last moments with my little bear.

http://www.caringbridge.org/co/elijahkurtz

I do have to add that most mito are not as extreme as Leigh's and I

don't mean to affend any of you that have fairly healthy children

that do LIVE a happy life. With my little Eli we are just doing

everything in our power to keep him in comfort. God really has the

control.

God bless all of you who love your children. Sometimes that is the

best medicine.

Ann Mommy to my little Bear Elijah (22months) Leigh's disease

http://www.caringbridge.org/co/elijahkurtz

>

> Hi everyone. I am just wondering what the benefit of an actual

> diagnosis is if the treatment does not change with diagnosis (mito

> coctail is given either way) I certainly understand the necessity

if

> you are trying to rule out other diseases or want to use the

> information to decide whether to have another child, but beyond

that

> is there a benefit?

>

> I am also interested to hear whether anyone has information about

> skin biopsys and why they are not considered conclusive. Also,

what

> is the debate about fresh/frozen biopsy's?

>

> The reason for all the questions is that we have a 3 year old who

had

> a stroke at birth and who was " tentatively " diagnosed as being

> complex III and IV deficient via skin biopsy. He appears to be

> nonsymptomatic at this time and is one somewhat of a mito

coctail. I

> had read somewhere (I can't remember where) that injected

anesthesia

> to numb the biopsy site can cause skewed results and he did have

> that. I wonder (and of course hope) if the skin biopsy results

were

> wrong and wonder if there is any valid reason, beyond just

knowing,

> to go ahead with a muscle biopsy. Thanks!

>

> Beth