Re: & Anne - CDG(transferrin)

[Guest guest]

Since we three all deal with the vascultis, I am very interested in

learning more about this issue. Is there anything I should possibly be

looking for in my girls pertaining to this CDG? I am going to do some

research after I send this, but any help on what your childrn's symptoms are

that you see with this issue would be appreciated. (I do know Zipporrahhas

low iron and treatment thus far isn't working. Symptom??)

Darla: mommy to

Asenath (4) Mito, CNS Vasculitis, strokes, migraines, seizures, G-tube,

hypotonicity, disautonomy, SID, dev. delays, asthma, cyclic vomiting...

Zipporrah (11 mon.) Mito, strokes, neuro-motor planning dysfunction, SID,

GERD, 100% G-tube fed, asthma, trach issues, aberrant subclavian artery,

disautonomy, hypo & hypertonicity, migraines, possible seizures, dumping

syndrome, iron deficiency...

Luke (16), Leah (14), Rachael (12), Isaac (10), Tirzah (8), Kezia (3), &

Marquis (2) (some with Mito symptoms)

Anne - CDG(transferrin)

>

> Anne,

> you are the first person since our diagnosis of CDG with secondary mito

> to

> ever post about the transferrins..

> we were told several years ago( 2000 ) that we has a disorder of

> glycosylation with a secondary mitochondrial disorder and one kid with a

> fatty acid

> defect also.

> where did you have the transferring test done?

> we were tested in San Diego by two docs and then the labs were sent to

> belgium to the very man that founded the CDG syndromes.

> I would love to hear more from you as you would be the second one with

> this

> diagnosis.

>

>

> Anne

> www.caringbridge.org/wi/zachsam

>

[Guest guest]

Darla, I really do not know much about this - only heard of it a few

days ago when Sam's carb transferin level came back abnormal. We

need to repeat it in a month and if high again I suppose I'll be

learning more.

As for why our doc ordered it - my understanding is because of the

severe coagulopathy that Sam has. He clots and gets low molecular

weight heparin (lovenox) every 6 hours. At the same time he bleeds

severely and requires blood products around the clock. It is as if he

is in persistent (DIC) Disseminated Intravascular Coagulation.

There are many other symptoms that are associated with CDG when i

read about it but the coagulopathy is what we have never been able to

understand.

As for the vasculitis - our doctors have always treated it as if it

is an autoimmune component of their disease process. hence the high

dose IVIG every few weeks.

Anne

-- In Mito , " Darla Klein " wrote:

> Since we three all deal with the vascultis, I am very

interested in

> learning more about this issue. Is there anything I should

possibly be

> looking for in my girls pertaining to this CDG? I am going to do

some

> research after I send this, but any help on what your childrn's

symptoms are

> that you see with this issue would be appreciated. (I do know

Zipporrahhas

> low iron and treatment thus far isn't working. Symptom??)

>

> Darla: mommy to

> Asenath (4) Mito, CNS Vasculitis, strokes, migraines, seizures, G-

tube,

> hypotonicity, disautonomy, SID, dev. delays, asthma, cyclic

vomiting...

> Zipporrah (11 mon.) Mito, strokes, neuro-motor planning

dysfunction, SID,

> GERD, 100% G-tube fed, asthma, trach issues, aberrant subclavian

artery,

> disautonomy, hypo & hypertonicity, migraines, possible seizures,

dumping

> syndrome, iron deficiency...

> Luke (16), Leah (14), Rachael (12), Isaac (10), Tirzah (8), Kezia

(3), &

> Marquis (2) (some with Mito symptoms)

>

>

> Anne - CDG(transferrin)

> >

> > Anne,

> > you are the first person since our diagnosis of CDG with

secondary mito

> > to

> > ever post about the transferrins..

> > we were told several years ago( 2000 ) that we has a disorder of

> > glycosylation with a secondary mitochondrial disorder and one kid

with a

> > fatty acid

> > defect also.

> > where did you have the transferring test done?

> > we were tested in San Diego by two docs and then the labs were

sent to

> > belgium to the very man that founded the CDG syndromes.

> > I would love to hear more from you as you would be the second

one with

> > this

> > diagnosis.

> >

> >

> > Anne

> > www.caringbridge.org/wi/zachsam

> >