Re: Re: & Anne - CDG(transferrin)

[Guest guest]

Darla,

as with Anne, we have a problem with autoimmune also, perhaps also that is where the vassculitis comes from. My son with the CNS vasculitis has a C reactive protein that is extremely high and he has high anti histone antibodies. both autoimmune reactions.

have they ever checked Aseneth? I dont think they will get a accurate result on the prednisone now but perhaps they checked her before they started it?

[Guest guest]

To be honest sometimes I wonder what hasn't been checked on her.

Sometimes I feel we aren't getting the best care for her because the

neurologist gets stuck in these ruts of beliefs and doesn't want to look at

other possibilities. For the longest time she was stuck on the " Chicken pox

caused the Vasculitis " thing. Then when it was obvious it didn't she leaped

to other reasons that just haven't fit. Our Rheumotologist believes Mito

caused it. Does the CMG cause it, do you know? I am totally confused about

the CMG to be honest. I read tons on it but know I couldn't explain it to

anyone. The girls do have lots of the symptoms described, so I think I will

brave the docs and ask if anything like this has been tested on Asenath.

The girls have had so many tests done and I have a pile over a foot high

full of their medical files, so I have no idea what was done and what

wasn't, especially when the docs order tons of stuff and just tell me what

they feel is important results. I am always amazed at how much some of you

guys seem to know so much about the test results and labs. Our docs don't

encourage me to study labs as they say we will just get upset about abnormal

labs that really aren't very important. I guess some of their patients must

do that, but I am not an over-reactor by any means. I may ask what a

certain test means, but not panic about an abnormal number. But if they

aren't important lab numbers, why were they noted as low or high and why

test for them in the first place??? Sorry about the soap box but this is a

frustrating issue for me as I feel our docs are just too busy to really

invest time into my girls. Dr. Whiteman is the only full-time geneticist at

Mayo now and I know I just can't be as open with the neurologist as she

doesn't like to be challenged or hear what I think. I have tried to speak

to Dr. Whiteman for over two months now with no response! I guess with

Zipporrah deteriorating, I am starting to lose my patience. I want a doctor

who will respond when I am worried by e-mail or phone call, or something! I

love Dr. Whiteman, but he is just way over booked now and puts so much into

his present patients there isn't any time to think of those who aren't in

front of him.

Thanks for your help in all this. Sorry for my frustration.

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)

Re: Re: & Anne - CDG(transferrin)

> Darla,

> as with Anne, we have a problem with autoimmune also, perhaps also that is

> where the vassculitis comes from. My son with the CNS vasculitis has a C

> reactive protein that is extremely high and he has high anti histone

> antibodies.

> both autoimmune reactions.

> have they ever checked Aseneth? I dont think they will get a accurate

> result

> on the prednisone now but perhaps they checked her before they started

> it?

>

>