Re: Does this sound right to you?

April 16, 1999

A couple of years ago I went to the Mitochondrial Conference in Pinnsilvania.

One night at dinner the speaker asked us all to get into diagnostic groups.

Well hush my puppies the largest group, as I recall, seemed to be the

" suspected " group!

Also in an unrelated circumstance Dr R. Navaux of UCSD told me in a letter

regarding diagnosis for our daughter, Amy:

" Unfortunently, she (Amy) falls into the 30% categoryof patients that dispite

all our best efforts, we cannot come up with a precise molecular or

biochemical diagnosis. "

I cannot tell you if the 30% is thirty % of the patients HE has seen there at

the center at UCSD, or if it is a generalised number. My guess is that it

refers to whom he has seen. In that case I would think that the number of

undiagnosed patients is large, indeed!

Hope this address's that of which you speak.

Lynnie

Wife, Mother, Advocate

April 16, 1999

Dear Debra

This is unfortunately still a common misconception among some docs - that

children with mito disorders have to be obviously sick or have a lot of positive

biochemistry to qualify for the diagnosis. You do not have to be sick from birth

to have a mito disease. You do not have to have abnormal lab results to have a

mito disease. The only way of really knowing is to get a positive result on a

muscle biopsy or, in some rare, specific cases, in a blood test. Both of my

children were healthy until they were almost 4 and even though my son is now

very affected - he has a confirmed diagnosis on a liver biopsy - his labs,

including his Electrolytes, have rarely, if ever, been even mildly abnormal.

When I first raised the prospect of my daughter having a possible metabolic

disorder with one of our docs, he said to me 'You can tell just by looking at

her that she is perfectly normal'. Well that 'perfectly normal' child has been

dead for 5 years now, and she died because she had medical treatment completely

inappropriate for someone with a mito disease. You will hear many similar

stories here. Don't be discouraged from pursuing a diagnosis, don't let them

dismiss the idea, and for your daughter's sake, treat her as if she DOES have a

mito disease until THEY prove otherwise. That's my advice anyway.

Lynne

(Mummy of Angus, 6, oxphos disorder, and Ally, forever 4, in heaven due to

depakote toxicity)

______________________________ Reply Separator _________________________________

Subject: Does this sound right to you?

Author: and Debra Hunsucker at SMTPGateway

Date: 15/4/1999 20:25

Jasmine had a same day appt today for a strep check( positive of course

since mine was) and she had an infected finger from slamming it in the

door last week. We had to change dr practices in the last month as we

were in a solo practice and he left. CRY CRY CRY. Anyhow we are trying

to see just two of the drs and were fortunate to see the other one we

wanted to. After we got through, he said the other dr had been talking

to him about Jas. When I mentioned about her having a mito disorder he

said no, as she would have had other problems before this. Electrolytes

off etc.She is 7 by the way. Well this does not seem to jive with the

information that I read on this group. It seems as though the majority

of the kids are undiagnosed.

COuld somebody comment on this?Thanks

Debra angel in Alaska

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April 16, 1999

Debra:

Tell your new doc about ADULT onset mito. Unfortunately, it highlights

the need to have knowledgeable specialists, since GPs can't keep up with

everything. Doctors may not have recognized her symptoms as mito, but

since most mito is inborn (anyone jump in to correct) vs. acquired, she

has had it all along. THe later in life it is noted, usually the better

one's prospects are.

Sue ELlen

and Debra Hunsucker wrote:

>

> Jasmine had a same day appt today for a strep check( positive of course

> since mine was) and she had an infected finger from slamming it in the

> door last week. We had to change dr practices in the last month as we

> were in a solo practice and he left. CRY CRY CRY. Anyhow we are trying

> to see just two of the drs and were fortunate to see the other one we

> wanted to. After we got through, he said the other dr had been talking

> to him about Jas. When I mentioned about her having a mito disorder he

> said no, as she would have had other problems before this. Electrolytes

> off etc.She is 7 by the way. Well this does not seem to jive with the

> information that I read on this group. It seems as though the majority

> of the kids are undiagnosed.

> COuld somebody comment on this?Thanks

> Debra angel in Alaska

>

> ------------------------------------------------------------------------

> Start a new hobby. Meet a new friend.

> http://www.ONElist.com

> ONElist: The leading provider of free e-mail list services!

> ------------------------------------------------------------------------

> Brought to you by www.imdn.org - an on-line support group for those affected

by mitochondrial disease.

April 16, 1999

In a message dated 99-04-16 02:38:17 EDT, you write:

<< Debra:

Tell your new doc about ADULT onset mito. Unfortunately, it highlights

the need to have knowledgeable specialists, since GPs can't keep up with

everything. Doctors may not have recognized her symptoms as mito, but

since most mito is inborn (anyone jump in to correct) vs. acquired, she

has had it all along. THe later in life it is noted, usually the better

one's prospects are.

Sue ELlen >>

Dear Sue Ellen:

I'm jumping here, and yes " most " mito disease is inborn but mito-disease can

be aquired. See the Exceptional Parent Magazine series on Mitochondrial

disease June July August of 1997.

Lynnie

April 18, 1999

Gosh Lynne, How did you ever forgive these Doctors??? Kathy

----------

> From: LynneSeear@...

> To: mitoonelist; and Debra Hunsucker

> Subject: Re: Does this sound right to you?

> Date: Friday, April 16, 1999 12:51 AM

>

> From: LynneSeear@...

>

> Dear Debra

>

> This is unfortunately still a common misconception among some docs - that

> children with mito disorders have to be obviously sick or have a lot of

positive

> biochemistry to qualify for the diagnosis. You do not have to be sick

from birth

> to have a mito disease. You do not have to have abnormal lab results to

have a

> mito disease. The only way of really knowing is to get a positive result

on a

> muscle biopsy or, in some rare, specific cases, in a blood test. Both of

my

> children were healthy until they were almost 4 and even though my son is

now

> very affected - he has a confirmed diagnosis on a liver biopsy - his

labs,

> including his Electrolytes, have rarely, if ever, been even mildly

abnormal.

>

> When I first raised the prospect of my daughter having a possible

metabolic

> disorder with one of our docs, he said to me 'You can tell just by

looking at

> her that she is perfectly normal'. Well that 'perfectly normal' child has

been

> dead for 5 years now, and she died because she had medical treatment

completely

> inappropriate for someone with a mito disease. You will hear many similar

> stories here. Don't be discouraged from pursuing a diagnosis, don't let

them

> dismiss the idea, and for your daughter's sake, treat her as if she DOES

have a

> mito disease until THEY prove otherwise. That's my advice anyway.

>

> Lynne

> (Mummy of Angus, 6, oxphos disorder, and Ally, forever 4, in heaven due

to

> depakote toxicity)

>

> ______________________________ Reply Separator

_________________________________

> Subject: Does this sound right to you?

> Author: and Debra Hunsucker at SMTPGateway

> Date: 15/4/1999 20:25