Re: Re: Barshop/Boles, etc/

[Guest guest]

, Very interesting . . . I knew from this list that several kids had

dysmorphic features. Schoffner said that it defintely could happen

with mito, as did our geneticist. And yet, Barshop seemed genuinely

surprised. As a layperson, I have even read articles about certain features

being consistent with mito. Barshop wanted to call in a regular geneticist

to look at , but she was not available at the time. has been

looked at thoroughly by an excellent geneticist. He has literally had every

possible genetic test, including telomere fish (the most advanced test).

None pointed to any known syndrome. And yet, he most defintely has

mito----he has 0 complex I activity and less than 5 percent of normal

complex IV activity. Barshop even suggested that Schoffner might have

gotten the diagnosis wrong---he said that it happened once that Schoffner

dxed someone and then they found no mito when they repeated the biopsy in

San Diego. All this is very disconcerting---to raise the possibility of no

mito after Schoffner and our previous geneticist left us feeling quite

uneasy.

Well, as for features--- has overlapping toes (third toe lower than

the others), one half of a fingernail on right index finger, small

posteriorly rotated ears, a very high arched palate, and a light birth mark

(reddish in color) on his forehead. This makes him sound strange, but the

truth is he is a beautiful child! We even have people mistake him for a

girl since his fingers look rather delicate. I will admit that he looks a

little " off " but not ugly by any stretch.

I think that these mito doctors are all fairly clueless . . . I guess there

just hasn't been enough time to study the diseases to have the kind of

information we desire. One day . . . I did find Barshop to be a nice man .

... just not particularly helpful.

Thanks for sharing, Lori

Re: Barshop/Boles, etc.

> Lori,

> What dysmorphic features are you dealing with? I am curious as my

> kids have dental and heart anomolies and pigmentation.

> We also saw Barshop and i wont go into it but he was NO help and he

> told us there was absolutely no way we had mito, I pursued a muscle

> biopsy anyway and guess what , it showed mito. complex II and III..

> Ill never see him again...

>

>

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

>

[Guest guest]

I meant to say his " features " look delicate not " fingers. " Geez, I have to

start proofreading!

Lori

Re: Barshop/Boles, etc.

>

>

> > Lori,

> > What dysmorphic features are you dealing with? I am curious as my

> > kids have dental and heart anomolies and pigmentation.

> > We also saw Barshop and i wont go into it but he was NO help and he

> > told us there was absolutely no way we had mito, I pursued a muscle

> > biopsy anyway and guess what , it showed mito. complex II and III..

> > Ill never see him again...

> >

> >

> >

> >

> >

> >

> > Please contact mito-owner with any problems or

questions.

> >

[Guest guest]

, Thanks for sharing your family's experience. I can't believe what

you said about " pulling guesses out of a hat. " How ironic that he had come

up with the disorder in the first place. You know, I went to UCSD first

over Boles in LA because I thought that since it was a " research center, "

the doctors there would have the latest and best info. I guess I'll just

keep chugging along. I know not to expect much given the paucity of

research on the disease, but I at least want someone who will kind of " get

in there " with us and throw ideas around, make judgment calls, etc. as

opposed to having a more " hands off " approach.

I'm not aware of any other problems (immune) that has. Not to say he

doesn't have any. He is very often " sickly " and in pain, but we aren't able

to determine what's wrong because he has no ability to communicate (no

language, gesture, sign). I will say that Schoffner was positive he had

mito. He told us he was sure he had it even before the biopsy!!!!! That

was just based on his review of all of 's test results and looking at

(including his little dysmorphic features). So, I will rest on that

and not let Barshop's opinion shake me up.

I'll let you know when we see Boles.

Take care, Lori

Re: Barshop/Boles, etc/Lori

>

> Lori,

> I agree Barshop is a nice man however he was critizing one of the

> other UCSD mito docs to us and I found that very unprofessional. I

> have talked to several parents that had biospies done at UCSD that

> were completely negative and then redone elsewhere only to find

> several mito defects in the muscle biospy. For awhile UCSD stopped

> doing muscle biospies ( about a year ) and have just recently

> started, (at least on adults as I was waiting for one )

> makes you wonder why.

> When we first saw Barshop he thought my kids had a glycosylation

> syndrome and ran tests that came back negative he said there was no

> way we had mito. On a return visit to him we told him that another

> mito doc at UCSD said he agreed it was probally a glycosylation

> defect and Barshop said the other doc was pulling guesses out of a

> hat, I reminded him that he was the one that first suggested it..he

> then told us my kids were perfectly fine and we did not need any

> further treatment or follow up.

> Anyway while there we saw the author of the medical book " s

> guide to genetic and dysmorphic syndromes " he said we had mito.

> we are still being evaluated for the glycosylation defect but thus

> far it is all negative but at least we have the confirmed mito on

> biopsy..by the way my kids are all immunedeficient and have a

> clotting disorder..how about your son?

> hugs

>

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

>