Re: tests best while sick? (Dena)

[Guest guest]

I'm not sure what your doc is checking for, but I know many of the FODs and

OAs are diagnosed by this type of " sick " testing of organic acids and blood

amino acids, etc.

Dena

[Guest guest]

Is there a reason they check these things and then

while sick yet besides? Are there certain things

they're looking for that I should be concerned about?

I tried calling the office to ask these questions, But

the genetic doc is only in on Tuesdays so he's not

around to even ask till then.... (he's available for

emergencies only from what I understand during the

rest of the week)

We've already established that my son is carnitine

deficient, so I can't imagine that changing during

sickness... and for the other things, well, I don't

even know what they're for...

Thanks for your ideas!

DeeDee

--- waislandgirl@... wrote:

> The urine was probably for urinary organic acids.

> 's genetics doc also

> drew blood amino acids, lactic acid, carnitine

> profile, and wanted to do

> pyruvate, but the local hospital couldn't process it

> properly, so it wasn't

> done.

__________________________________________________

[Guest guest]

Is there a reason they check these things and then

while sick yet besides? Are there certain things

they're looking for that I should be concerned about?

I tried calling the office to ask these questions, But

the genetic doc is only in on Tuesdays so he's not

around to even ask till then.... (he's available for

emergencies only from what I understand during the

rest of the week)

We've already established that my son is carnitine

deficient, so I can't imagine that changing during

sickness... and for the other things, well, I don't

even know what they're for...

Thanks for your ideas!

DeeDee

--- waislandgirl@... wrote:

> The urine was probably for urinary organic acids.

> 's genetics doc also

> drew blood amino acids, lactic acid, carnitine

> profile, and wanted to do

> pyruvate, but the local hospital couldn't process it

> properly, so it wasn't

> done.

__________________________________________________

[Guest guest]

Is there a reason they check these things and then

while sick yet besides? Are there certain things

they're looking for that I should be concerned about?

I tried calling the office to ask these questions, But

the genetic doc is only in on Tuesdays so he's not

around to even ask till then.... (he's available for

emergencies only from what I understand during the

rest of the week)

We've already established that my son is carnitine

deficient, so I can't imagine that changing during

sickness... and for the other things, well, I don't

even know what they're for...

Thanks for your ideas!

DeeDee

--- waislandgirl@... wrote:

> The urine was probably for urinary organic acids.

> 's genetics doc also

> drew blood amino acids, lactic acid, carnitine

> profile, and wanted to do

> pyruvate, but the local hospital couldn't process it

> properly, so it wasn't

> done.

__________________________________________________

[Guest guest]

Hi DeeDee,

Did you read the great info on the FOD website and re OAs at www.oaanews.org?

(I can't remember the exact website for the FOD support group, but it has a

wealth of information and can easily be found via any search engine.) These

sites can explain things much better than I can! ;-) And, the head of the

FOD group, Debbie Gould (?) will email back and forth with you also. (I've

seen her do this with others on the OA email group.)

Let us know if this helps!

Dena

[Guest guest]

Sorry to keep pestering about this... but I was

wondering (and I'm not even sure I know the right

question I want to ask here) But...

so far we know that isn't metabolizing fats

like he should since he has a very high level in his

system even when not sick. (the genetic doc put him on

a low fat diet) Will these " sick " tests maybe show

something different? I mean is FOD an actual diagnosis

of something or is it a problem resulting from some

disorder? <maybe I'm not asking right> but I hope you

understand what it is I might be trying to say.

Sorry I'm not being more clear, like I said, I'm not

exactly sure " how " to ask what it is I'm trying to

find out. = / = )

Thanks again Dena!

DeeDee

--- waislandgirl@... wrote:

> I'm not sure what your doc is checking for, but I

> know many of the FODs and

> OAs are diagnosed by this type of " sick " testing of

> organic acids and blood

> amino acids, etc.

>

> Dena

>

__________________________________________________

[Guest guest]

Hi DeeDee

FODs can be an actual diagnosis (other word sometimes used is Beta Oxidation Disorder) You can have an FOD and only an FOD. (Primary disorder) However, you can also have an FOD as a secondary disorder. Meaning that something else is going on and it is causing a problem in Beta Oxidation too.

I hope this helps. Sick testing shows what is really going on in the body because the true metabolic problems show up the most when the body is in distress.

Sincerely,

Bridget

Re: tests best while sick? (Dena)

Sorry to keep pestering about this... but I waswondering (and I'm not even sure I know the rightquestion I want to ask here) But...so far we know that isn't metabolizing fatslike he should since he has a very high level in hissystem even when not sick. (the genetic doc put him ona low fat diet) Will these "sick" tests maybe showsomething different? I mean is FOD an actual diagnosisof something or is it a problem resulting from somedisorder? <maybe I'm not asking right> but I hope youunderstand what it is I might be trying to say.Sorry I'm not being more clear, like I said, I'm notexactly sure "how" to ask what it is I'm trying tofind out. = / = )Thanks again Dena!DeeDee--- waislandgirl@... wrote:> I'm not sure what your doc is checking for, but I> know many of the FODs and > OAs are diagnosed by this type of "sick" testing of> organic acids and blood > amino acids, etc.> > Dena> __________________________________________________

[Guest guest]

we are members and I find it to be a wealth of information and

support. Just like here! My son has glutaric aciduria type 2 .

I find there are a range of cases there from mild-severe which helps

because my sons case is mild.. Its harderhearing about the more

severe cases. Anyway i am sure debbie would help you out.

later

sarah

mom to zach 18 months ga2 aka madd

alexis 3 unaffected

[Guest guest]

-Did you find this site www.fodsupport.org While I was still

hunting for a diagnosis for Ronan I looked into FOD's. This was a

great site, and Deb Gould was so helpful and caring. She sent me

info about mitochondrial disease and it definetly helped in getting

a diagnosis. They also have an email list with parents of affected

kids. Just like this list it was very helpful to be able to ask the

paretn experts all sort so questions

Good luck,

[Guest guest]

Wow! It's a small cyberspace. I emailed back and forth with Deb Gould when

was teeny and suspected of having SCAD. I agree she and the website

are great for info and support. Lori

Re: tests best while sick? (Dena)

> -Did you find this site www.fodsupport.org While I was still

> hunting for a diagnosis for Ronan I looked into FOD's. This was a

> great site, and Deb Gould was so helpful and caring. She sent me

> info about mitochondrial disease and it definetly helped in getting

> a diagnosis. They also have an email list with parents of affected

> kids. Just like this list it was very helpful to be able to ask the

> paretn experts all sort so questions

>

> Good luck,

>

>

>

>

> Please contact mito-owner with any problems or questions.

>

>