RE: ketogenic] mitochondrial disease

[Guest guest]

For really comprehensive info, go to the www.umdf.org web-site.

I'm sure you can also write to them for a recommendation about a specializing

physician in your area.

Tracey

[Guest guest]

For really comprehensive info, go to the www.umdf.org web-site.

I'm sure you can also write to them for a recommendation about a specializing

physician in your area.

Tracey

[Guest guest]

For really comprehensive info, go to the www.umdf.org web-site.

I'm sure you can also write to them for a recommendation about a specializing

physician in your area.

Tracey

[Guest guest]

Barb (et.al.):

Came across a page on the umdf.org web-site which is a great overview of the

different kinds of labs useful to diagnosing mito disease.

Go to the site, then follow the links to " Information Center, " then " For

Patients and Families, " then " Diagnostic Testing. "

Tracey

[Guest guest]

Barb (et.al.):

Came across a page on the umdf.org web-site which is a great overview of the

different kinds of labs useful to diagnosing mito disease.

Go to the site, then follow the links to " Information Center, " then " For

Patients and Families, " then " Diagnostic Testing. "

Tracey

[Guest guest]

Barb (et.al.):

Came across a page on the umdf.org web-site which is a great overview of the

different kinds of labs useful to diagnosing mito disease.

Go to the site, then follow the links to " Information Center, " then " For

Patients and Families, " then " Diagnostic Testing. "

Tracey

[Guest guest]

The muscle biopsy takes a great deal of coordinating with your geneticist, the

surgeon performing the biopsy, and the lab where the tests will be run. There

are only a few hospitals and labs that actually run all the tests.

ketogenic] mitochondrial disease

I have been reading the information on the mitochondrial diseases for quite

some time. has had the urine for gentic screen but no other

genetic or muscle biopsies. When I was reading the info about it, he has

several of

the traits of the disorder. He has developmental delay, hyperkinesis, vision

problems, hearing issues (not loss but issues), short stature, seizures,

strabissmus, lactic acidosis. I am wondering if he should be tested for this

disorder. I have always felt and lately really felt that there is something

underlying that we are missing. Just a gut feeling. He just doesn't fit into

the

autism or CP diagnosis.

Anyways, which doctor should order these tests?

THanks

[Guest guest]

The muscle biopsy takes a great deal of coordinating with your geneticist, the

surgeon performing the biopsy, and the lab where the tests will be run. There

are only a few hospitals and labs that actually run all the tests.

ketogenic] mitochondrial disease

I have been reading the information on the mitochondrial diseases for quite

some time. has had the urine for gentic screen but no other

genetic or muscle biopsies. When I was reading the info about it, he has

several of

the traits of the disorder. He has developmental delay, hyperkinesis, vision

problems, hearing issues (not loss but issues), short stature, seizures,

strabissmus, lactic acidosis. I am wondering if he should be tested for this

disorder. I have always felt and lately really felt that there is something

underlying that we are missing. Just a gut feeling. He just doesn't fit into

the

autism or CP diagnosis.

Anyways, which doctor should order these tests?

THanks

[Guest guest]

The muscle biopsy takes a great deal of coordinating with your geneticist, the

surgeon performing the biopsy, and the lab where the tests will be run. There

are only a few hospitals and labs that actually run all the tests.

ketogenic] mitochondrial disease

I have been reading the information on the mitochondrial diseases for quite

some time. has had the urine for gentic screen but no other

genetic or muscle biopsies. When I was reading the info about it, he has

several of

the traits of the disorder. He has developmental delay, hyperkinesis, vision

problems, hearing issues (not loss but issues), short stature, seizures,

strabissmus, lactic acidosis. I am wondering if he should be tested for this

disorder. I have always felt and lately really felt that there is something

underlying that we are missing. Just a gut feeling. He just doesn't fit into

the

autism or CP diagnosis.

Anyways, which doctor should order these tests?

THanks

[Guest guest]

We had a metabolic geneticist order them. We were referred to one by our neuro.

Any genetics doctor or metabolic/mito specialist would do it. I would ask the

neuro about it, or, where do you live?

ketogenic] mitochondrial disease

I have been reading the information on the mitochondrial diseases for quite

some time. has had the urine for gentic screen but no other

genetic or muscle biopsies. When I was reading the info about it, he has

several of

the traits of the disorder. He has developmental delay, hyperkinesis, vision

problems, hearing issues (not loss but issues), short stature, seizures,

strabissmus, lactic acidosis. I am wondering if he should be tested for this

disorder. I have always felt and lately really felt that there is something

underlying that we are missing. Just a gut feeling. He just doesn't fit into

the

autism or CP diagnosis.

Anyways, which doctor should order these tests?

THanks

[Guest guest]

We had a metabolic geneticist order them. We were referred to one by our neuro.

Any genetics doctor or metabolic/mito specialist would do it. I would ask the

neuro about it, or, where do you live?

ketogenic] mitochondrial disease

I have been reading the information on the mitochondrial diseases for quite

some time. has had the urine for gentic screen but no other

genetic or muscle biopsies. When I was reading the info about it, he has

several of

the traits of the disorder. He has developmental delay, hyperkinesis, vision

problems, hearing issues (not loss but issues), short stature, seizures,

strabissmus, lactic acidosis. I am wondering if he should be tested for this

disorder. I have always felt and lately really felt that there is something

underlying that we are missing. Just a gut feeling. He just doesn't fit into

the

autism or CP diagnosis.

Anyways, which doctor should order these tests?

THanks

[Guest guest]

We had a metabolic geneticist order them. We were referred to one by our neuro.

Any genetics doctor or metabolic/mito specialist would do it. I would ask the

neuro about it, or, where do you live?

ketogenic] mitochondrial disease

I have been reading the information on the mitochondrial diseases for quite

some time. has had the urine for gentic screen but no other

genetic or muscle biopsies. When I was reading the info about it, he has

several of

the traits of the disorder. He has developmental delay, hyperkinesis, vision

problems, hearing issues (not loss but issues), short stature, seizures,

strabissmus, lactic acidosis. I am wondering if he should be tested for this

disorder. I have always felt and lately really felt that there is something

underlying that we are missing. Just a gut feeling. He just doesn't fit into

the

autism or CP diagnosis.

Anyways, which doctor should order these tests?

THanks

[Guest guest]

Barb-

We live in Indianapolis and we see Dr. Chez in Chicago. He is pretty

on top of it and has never mentioned this to us. I will ask him when we go

back in the end of June. We were just there last week for a really depressing

visit. I really feel like sometimes you think you are moving forward and then

months later, we are way back where we started. Dr. Chez wants to try ACTH

injections with and I'm just not that keen on it. Mainly because I

have never heard of it being a cure but more like a 3 month hiatis from

seizures. Go through three months of hell with ACTH for 3 sz free months???

Anyways,

he is not nearly as bad sz wise as he was pre diet but the sz are sneakin back

in w/ any carbs over a very limited amount. pretty much won't do

keto after 2 years and digs in trash, unlocks cabinets in the night or early

am. He's sick of it. He does fine on the low carb diet and we have taken

away all products that are like the low carb frenzy out there these days. He

just needs natural foods. Anwyas, you know what, I'm rambling, I've had a long

few days and just had a cold margarita and it tasted really good.

How is Jake doing? Did you find out if he has the mito disorder yet?? Any

thoughts for us?? is on Felbatol 200 mg in am and Zanaflex 6 mg pm

for sleep and 800 mg carn aware. thats all.

Thanks and I might add we've been on this list for 3 years and so glad to

have it,

[Guest guest]

Barb-

We live in Indianapolis and we see Dr. Chez in Chicago. He is pretty

on top of it and has never mentioned this to us. I will ask him when we go

back in the end of June. We were just there last week for a really depressing

visit. I really feel like sometimes you think you are moving forward and then

months later, we are way back where we started. Dr. Chez wants to try ACTH

injections with and I'm just not that keen on it. Mainly because I

have never heard of it being a cure but more like a 3 month hiatis from

seizures. Go through three months of hell with ACTH for 3 sz free months???

Anyways,

he is not nearly as bad sz wise as he was pre diet but the sz are sneakin back

in w/ any carbs over a very limited amount. pretty much won't do

keto after 2 years and digs in trash, unlocks cabinets in the night or early

am. He's sick of it. He does fine on the low carb diet and we have taken

away all products that are like the low carb frenzy out there these days. He

just needs natural foods. Anwyas, you know what, I'm rambling, I've had a long

few days and just had a cold margarita and it tasted really good.

How is Jake doing? Did you find out if he has the mito disorder yet?? Any

thoughts for us?? is on Felbatol 200 mg in am and Zanaflex 6 mg pm

for sleep and 800 mg carn aware. thats all.

Thanks and I might add we've been on this list for 3 years and so glad to

have it,

[Guest guest]

Barb-

We live in Indianapolis and we see Dr. Chez in Chicago. He is pretty

on top of it and has never mentioned this to us. I will ask him when we go

back in the end of June. We were just there last week for a really depressing

visit. I really feel like sometimes you think you are moving forward and then

months later, we are way back where we started. Dr. Chez wants to try ACTH

injections with and I'm just not that keen on it. Mainly because I

have never heard of it being a cure but more like a 3 month hiatis from

seizures. Go through three months of hell with ACTH for 3 sz free months???

Anyways,

he is not nearly as bad sz wise as he was pre diet but the sz are sneakin back

in w/ any carbs over a very limited amount. pretty much won't do

keto after 2 years and digs in trash, unlocks cabinets in the night or early

am. He's sick of it. He does fine on the low carb diet and we have taken

away all products that are like the low carb frenzy out there these days. He

just needs natural foods. Anwyas, you know what, I'm rambling, I've had a long

few days and just had a cold margarita and it tasted really good.

How is Jake doing? Did you find out if he has the mito disorder yet?? Any

thoughts for us?? is on Felbatol 200 mg in am and Zanaflex 6 mg pm

for sleep and 800 mg carn aware. thats all.

Thanks and I might add we've been on this list for 3 years and so glad to

have it,

[Guest guest]

For you and also Maureen,

We're just learning about this, but there's also a disorder called

" Angelman Syndrome " , which has some characteristics you listed. There is

a website you could check out by that name. Our son is being tested for

this via his neurologist and a geneticist.

, mother of 3yr old Tyler, seizure free 2 weeks on diet

ketogenic] mitochondrial disease

I have been reading the information on the mitochondrial diseases for

quite

some time. has had the urine for gentic screen but no other

genetic or muscle biopsies. When I was reading the info about it, he

has several of

the traits of the disorder. He has developmental delay, hyperkinesis,

vision

problems, hearing issues (not loss but issues), short stature, seizures,

strabissmus, lactic acidosis. I am wondering if he should be tested for

this

disorder. I have always felt and lately really felt that there is

something

underlying that we are missing. Just a gut feeling. He just doesn't

fit into the

autism or CP diagnosis.

Anyways, which doctor should order these tests?

THanks

[Guest guest]

For you and also Maureen,

We're just learning about this, but there's also a disorder called

" Angelman Syndrome " , which has some characteristics you listed. There is

a website you could check out by that name. Our son is being tested for

this via his neurologist and a geneticist.

, mother of 3yr old Tyler, seizure free 2 weeks on diet

ketogenic] mitochondrial disease

I have been reading the information on the mitochondrial diseases for

quite

some time. has had the urine for gentic screen but no other

genetic or muscle biopsies. When I was reading the info about it, he

has several of

the traits of the disorder. He has developmental delay, hyperkinesis,

vision

problems, hearing issues (not loss but issues), short stature, seizures,

strabissmus, lactic acidosis. I am wondering if he should be tested for

this

disorder. I have always felt and lately really felt that there is

something

underlying that we are missing. Just a gut feeling. He just doesn't

fit into the

autism or CP diagnosis.

Anyways, which doctor should order these tests?

THanks

[Guest guest]

For you and also Maureen,

We're just learning about this, but there's also a disorder called

" Angelman Syndrome " , which has some characteristics you listed. There is

a website you could check out by that name. Our son is being tested for

this via his neurologist and a geneticist.

, mother of 3yr old Tyler, seizure free 2 weeks on diet

ketogenic] mitochondrial disease

I have been reading the information on the mitochondrial diseases for

quite

some time. has had the urine for gentic screen but no other

genetic or muscle biopsies. When I was reading the info about it, he

has several of

the traits of the disorder. He has developmental delay, hyperkinesis,

vision

problems, hearing issues (not loss but issues), short stature, seizures,

strabissmus, lactic acidosis. I am wondering if he should be tested for

this

disorder. I have always felt and lately really felt that there is

something

underlying that we are missing. Just a gut feeling. He just doesn't

fit into the

autism or CP diagnosis.

Anyways, which doctor should order these tests?

THanks

[Guest guest]

lloydandleslie@... wrote:

> Any

> thoughts for us?? is on Felbatol 200 mg in am and

> Zanaflex 6 mg pm

> for sleep and 800 mg carn aware. thats all.

Have you ever tried (or considered) upping the carn aware? We have Jess

up to 2500 mg now......have seen good stuff cognitively and appear to be

seizure free again although at the moment I don't know if its the

carnosine, the keppra or both. I am suprised Dr Chez has his on such a

low dose

Just a thought

>

>

> Thanks and I might add we've been on this list for 3 years and so glad

> to

> have it,

>

>

>

>

[Guest guest]

lloydandleslie@... wrote:

> Any

> thoughts for us?? is on Felbatol 200 mg in am and

> Zanaflex 6 mg pm

> for sleep and 800 mg carn aware. thats all.

Have you ever tried (or considered) upping the carn aware? We have Jess

up to 2500 mg now......have seen good stuff cognitively and appear to be

seizure free again although at the moment I don't know if its the

carnosine, the keppra or both. I am suprised Dr Chez has his on such a

low dose

Just a thought

>

>

> Thanks and I might add we've been on this list for 3 years and so glad

> to

> have it,

>

>

>

>

[Guest guest]

-

FYI- I think there are lots of different mitochondrial disorders. I

also think that a mitochondrial disorder can come under the umbrella of

different metabolic disorders. Mitochondrial being the tiny things

inside each of our cells (we all have them) and metabolic being a type

of system failure. But you may know this already, just trying to spread

some possible knowledge. Both metabolic and mitochondrial disorders are

passed on my genetics; however some genes are so recessed the chance of

passing it on drops dramatically.

I would defiantly ask what has been tested for (ask for a list, so you

have something to always refer to) and suggested another work up; blood,

urine, lumbar puncture, muscle biopsy ect. (Not fun things for either to

go through). Genetics and Neurology work closely with this type of work

up, so you could ask either. I don't really understand why they would

have waited to do the above, if you don't have a diagnosis as to why

has seizures, delays, hearing issues, ect.

Well, I hope this helps.

ketogenic] mitochondrial disease

I have been reading the information on the mitochondrial diseases for

quite

some time. has had the urine for gentic screen but no other

genetic or muscle biopsies. When I was reading the info about it, he

has several of

the traits of the disorder. He has developmental delay, hyperkinesis,

vision

problems, hearing issues (not loss but issues), short stature, seizures,

strabissmus, lactic acidosis. I am wondering if he should be tested for

this

disorder. I have always felt and lately really felt that there is

something

underlying that we are missing. Just a gut feeling. He just doesn't

fit into the

autism or CP diagnosis.

Anyways, which doctor should order these tests?

THanks