Re: Disturbing conversation with doctor

October 22, 1999

,

In my humble opinion, based on what you have told us here, seeing this

doctor would be a waste of your time. I'm not saying that it isn't possible

that has Leigh's and the MRI changes just haven't shown up yet.

However, any doctor who will make a blanket statement like that with so

little information is bordering on incompetent and is obviously not informed

about mitochondrial disorders in general.

Again, just my opinion.

Terri

>

>Reply-To: Mitoonelist

>To: Mitoonelist

>Subject: Disturbing conversation with doctor

>Date: Fri, 22 Oct 1999 15:10:38 -0700

>

>Hi all. I hope I am still subscribed to this list. Haven't had any

>messages lately.

>

>At any rate, I had a brief conversation with the geneticist who is to see

> next Friday at Children's

>in D.C. She is a last resort because the doctors at Kennedy Kreiger aren't

>seeing anyone new.

>Nontheless, when I briefly described 's symptoms (pale optic nerves,

>nystagmus, developmental delay)

>she said that whenever you have neurological symptoms such as those the

>clinical diagnosis is always

>Leighs disease. I almost passed out! My son's MRI was negative and I

>guess I was under the assumption

>that you could have neurological symptoms without necessarily having

>Leighs. This woman now makes me feel

>that my son is going to die based on symptoms and no lab evidence. Is it

>just me, or is she crazy? I

>haven't been on this list very long, but it occurs to me that there are

>lots of folks on this list who

>have some neurological symptoms but don't have Leighs.

>

>This really makes me nervous about taking him down to Children's next week.

> I have never been happy with

>the doctors down there, and now I'm really down on them.

>

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

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

>affected by mitochondrial disease.

><< text3.html >>

October 22, 1999

lauren;

this doesn't seem right to me... of course, i am no expert, but how

can anyone say that certain symptoms " always " mean a certain disease, without

any concrete evidence to back it up? this doesn't sound very accurate to me.

my son orion's symptoms were neurological, and although his initial

diagnosis was leigh's, they later found that it was not what he had at all.

his mito was caused by his FEL. (i am not saying your child has FEL, just

that orion didn't have leigh's...)

is there any other dr at all that you can go to? what area are you in?

is there any way you can find a dr that you feel comfortable with? i think

that if it were me, i would always be wondering about the accuracy of the

info this dr is giving...

julia

orion's mommy

October 22, 1999

Steve,

I am the mother of an 11 year old girl that was diagnosed with Complex

IV many years ago. She has had lesions on her MRI since she was 11

months old and has had many neurological symptoms, although not the

changes in retina. She does not have leigh's disease. I am relatively

certain that you can have all the symptoms that you described and then

some, and not have leigh's disease. Leigh's disease is actually not

easily diagnosed and a diagnosis of leigh's disease is usually made when

there are specific lesions on certain parts of the brain. I've really

never heard of anyone having a normal MRI and getting a diagnosis of

Leigh's. Maybe someone else can clarify that for you, but I've never

heard of it before.

Also the symptoms that you describe are pretty typical of a lot of mito

disorders, so I'm not sure how this doc can be that positive over the

phone that your son has leigh's vs. any number other mito diseases.

I'd be a little bit nervous about going there too. Doesn't sound to me

like they are very well versed in mito. One mistake that I have seen

happen many times, is that Leigh's is diagnosed because it is one of the

more " famous " or well known mito diseases. A diagnosis of Leigh's is

actually very difficult to prove, since the confirmation of spongeform

lesions that are characteristic of Leigh's disease, can only be

identified through brain biopsy or autopsy.

Hang in there,

Jeannine

October 22, 1999

lauren;

although orion did not exactly have optic atrophy, he did have optic

disc hypoplasia, which is underdevelopment of the optic nerves. they never

developed correctly to begin with; they were extremely small, and pale.

because of this, he was blind, and his vision was not correctable. (i still

insist that he was not completely blind-- the drs say he could see only light

and movement-- nothing more.) i know this isn't the same thing as optic

atrophy, but it is similar.

some of his symptoms included: brain atrophy; optic disc hypoplasia;

seizures; brain lesions; brain hemorrhaging (caused by the atrophy);

consistant vomiting; reflux; tremors; apnea; bradycardia; hearing loss; FTT;

muscle stiffness; muscle weakness; hair loss; extreme irritability; among

many other things... by the way, these are the things that we knew of while

he was still here; they have found many other things from the autopsy-- which

still isn't back yet.

julia

orion's mommy forever

september 18, 1998 to february 3, 1999

mito disorder caused by familial erythrophagocytic lymphohistiocytosis

" some people only dream of angels; we held one in our arms! "

October 23, 1999

,

I am so sorry you are feeling sad. I understand and wish I could help.

Please know that we care and hope you can look forward to more positive

answers that will bring a little cheer to your life. This must be so hard

.... It hurts so much to see so many little ones suffering because of this

disease.

Our only hope is to keep working on the doctors to become more well informed

and the pharmacutical companys to take an interest and find a cure.

Alice

October 23, 1999

In a message dated 99-10-22 15:19:59 EDT, you write:

> A diagnosis of Leigh's is

> actually very difficult to prove, since the confirmation of spongeform

> lesions that are characteristic of Leigh's disease, can only be

> identified through brain biopsy or autopsy.

>

Jeannine (and all)

If you can find the time would you mind sharing more information

specifically in regards to " brain biopsy " info??? This has been mentioned in

an " off handed " manner by an " X " -geneticist of ours, he has since left

Vanderbuilt Children's Hospital. How intense is this surgery .., recovery

time, how long is the " wait " time before information starts coming in ..that

sort of stuff. Thank you all so much for being " here " ..it's hell on earth

not knowing what " it " is that my boys have but it's defiantely been easier to

deal with since meeting " you all " . TTYS

10-22-99 21:08Take care and best wishes from an Elf in TN...Romona

mom to Tori (age 11, nda ~ 5th grade inclusion), Zach (age 9, multichallenged

: acquired nystagmus, strubismus (surgically corrected), excema, chronic

sinusitus, Upper Resp disease, ataxia, hypotonia, progressive hypertonia,

dev. delays (globally), seizures (treated with Tegretol and " outgrown " by age

6), mild stuttering, oral motor/swallow issues, clonus presenting in right

leg only, megaColon~delayed emptying GI issues, ~3rd grade ERC program), Cory

(age 7, multichallenged ditto on Zach's with the exception of GI issues and

has not had the estopia-like condition surgically corrected~ 1st grade ERC

but currently awaiting M-team to discuss 1:1 aide for full inclusion in reg.

edu. classroom) and wife to Tony (my hero)

http://members.aol.com/_ht_a/Elf808/index.html

http://pages.hotbot.com/family/elf808/

October 23, 1999

I agree that it is wrong for her to make a statement like that. I must say,

however, that she does have

all of 's lab work results and doctor's records and is in contact with his

neurologist. Therefore, I

feel somehow that they all must have " decided " that has Leighs behind

closed doors, based upon his

symptoms and his symptoms alone. My guess is that a second MRI right now would

show lesions.

My real curiosity here is whether others have experienced the same symptoms

without having Leigh's. I

have heard of the ataxia and nystagmus with other mito diseases, but not the

optic atrophy. Another thing

that bothers me is that we went to see the opthomologist who saw originally

(not Repka but another

lady). Now she tells me that 's nerves " were " pink the first time she saw

him, then a month later

they were pale. She says they have not changed since that second visit a year

ago. This makes me furious

because she had written a report to me and the other doctors that, after

examining him the second time,

she did not see any progression. None of the other doctors have seen a

progression either, but that is

probably because it all happened in that first month then stabalized. I could

just kill that doctor. My

mother says she probably just thought they were pink at first and changed her

opinion later because all of

the other doctors disagreed with her. Who knows. I'm just so sad I want to

die.

Terri Mason wrote:

>

> ,

>

> In my humble opinion, based on what you have told us here, seeing this

> doctor would be a waste of your time. I'm not saying that it isn't possible

> that has Leigh's and the MRI changes just haven't shown up yet.

> However, any doctor who will make a blanket statement like that with so

> little information is bordering on incompetent and is obviously not informed

> about mitochondrial disorders in general.

>

> Again, just my opinion.

>

> Terri

>

> >

> >Reply-To: Mitoonelist

> >To: Mitoonelist

> >Subject: Disturbing conversation with doctor

> >Date: Fri, 22 Oct 1999 15:10:38 -0700

> >

> >Hi all. I hope I am still subscribed to this list. Haven't had any

> >messages lately.

> >

> >At any rate, I had a brief conversation with the geneticist who is to see

> > next Friday at Children's

> >in D.C. She is a last resort because the doctors at Kennedy Kreiger aren't

> >seeing anyone new.

> >Nontheless, when I briefly described 's symptoms (pale optic nerves,

> >nystagmus, developmental delay)

> >she said that whenever you have neurological symptoms such as those the

> >clinical diagnosis is always

> >Leighs disease. I almost passed out! My son's MRI was negative and I

> >guess I was under the assumption

> >that you could have neurological symptoms without necessarily having

> >Leighs. This woman now makes me feel

> >that my son is going to die based on symptoms and no lab evidence. Is it

> >just me, or is she crazy? I

> >haven't been on this list very long, but it occurs to me that there are

> >lots of folks on this list who

> >have some neurological symptoms but don't have Leighs.

> >

> >This really makes me nervous about taking him down to Children's next week.

> > I have never been happy with

> >the doctors down there, and now I'm really down on them.

> >

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

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

> >affected by mitochondrial disease.

> ><< text3.html >>

>

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

by mitochondrial disease.

October 23, 1999

Ramona,

A brain biopsy is, from what I understand, not an easy procedure. It was

suggested at one time for

Caitlin, and our docs felt that it wasn't worth the risks. That's really all I

know about it. I'm not

sure that it would be a viable thing just to prove a diagnosis of Leigh's.

Elf808@... wrote:

> Jeannine (and all)

> If you can find the time would you mind sharing more information

> specifically in regards to " brain biopsy " info???

October 23, 1999

We live between Washington, D.C. and Baltimore. My first choice for doctors is

always s

Hopkins/Kennedy Kreiger. But apparently that is also everyone else's first

choice, and Kennedy Kreiger is

very difficult to get in. I did send 's info to Dr. Kelley, and he

promised he'd review it

and call me, but said that he isn't seeing any more patients (right now he has

50 mito kids alone, not to

mention all the other genetic patients). I do have a little pull, as a good

friend of ours works for the

Chairman of Genetics at Cedars Sinai. She had the Chairman place a personal

call to Dr. Kelley yesterday

and he said that, after looking over 's records, he might agree to see him

as a patient. I am keeping

my fingers crossed. The doctor we are planning to see next week is at

Children's in D.C. No offense to

them, I am sure others have had great experiences there. Personally, we have

had horrible luck with them.

The doctors have been either extremely negative or extremely apathetic. They

have lost my son's blood

work three times in the past year (taken blood for tests then somehow forgot to

order the test...who knows

where the blood went). They ordered the wrong test two times and never called

to tell me about it. My

son has been accidentally tested by Children's for Fragile X four times and for

Very Long Chain Fatty

acids twice. The lab technicians who took my son's blood were terrible. One

guy broke the vial of blood

as he was drawing it from 's arm and the blood went everywhere. Then he

forgot to put a cotton ball

on the puncture and my son's arm was squirting blood all over.

Please, no offense to anyone who works there or has had good experiences there.

It's just that, for some

reason, we haven't had good luck at that place.

Jaz739@... wrote:

> From: Jaz739@...

>

> lauren;

> this doesn't seem right to me... of course, i am no expert, but how

> can anyone say that certain symptoms " always " mean a certain disease, without

> any concrete evidence to back it up? this doesn't sound very accurate to me.

> my son orion's symptoms were neurological, and although his initial

> diagnosis was leigh's, they later found that it was not what he had at all.

> his mito was caused by his FEL. (i am not saying your child has FEL, just

> that orion didn't have leigh's...)

> is there any other dr at all that you can go to? what area are you in?

> is there any way you can find a dr that you feel comfortable with? i think

> that if it were me, i would always be wondering about the accuracy of the

> info this dr is giving...

> julia

> orion's mommy

>

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

by mitochondrial disease.

October 23, 1999

In a message dated 10/22/1999 3:09:13 PM Eastern Daylight Time,

sfitzger@... writes:

> when I briefly described 's symptoms (pale optic nerves,

> nystagmus, developmental delay)

> she said that whenever you have neurological symptoms such as those the

> clinical diagnosis is always

> Leighs disease.

Steve, when I read this, the accent seemed to be on the word " clinical. " Is a

clinical diagnosis different from other types of diagnosis? Maybe the

diagnosis arrived at on the basis of presented symptoms as opposed to

testing? I have several diagnoses based on various criteria, but the biopsy

showed something else altogether. I'm not an MD, so do check it out.

the Elder

October 23, 1999

In a message dated 10/22/99 8:46:23 PM Eastern Daylight Time,

sfitzger@... writes:

<< did send 's info to Dr. Kelley, and he promised he'd review it

and call me, but said that he isn't seeing any more patients (right now he

has 50 mito kids alone, not to

mention all the other genetic patients). I do have a little pull, as a good

friend of ours works for the

Chairman of Genetics at Cedars Sinai. She had the Chairman place a personal

call to Dr. Kelley yesterday

and he said that, after looking over 's records, he might agree to see

him as a patient >>

:

I will keep my fingers crossed. Dr. Kelley is an amazing man. We met him when

Clayton was inpatient at KKI for 9 weeks and that is when he gave us the

diagnosis. We just had a follow up with him a week ago. He was with us for

over 2 hours and answered all our questions and is just a great doctor and so

caring. Hope that you can get to seehim.

Love,

sharon

October 23, 1999

Yes, the accent was on " clinical diagnosis, " meaning based upon the observed

symptoms and nothing else,

since all lab work is negative. Of course he could still have something that

isn't even mitochondrial at

all, such as neuroaxonal dystrophy. My concern is that, over the last three

months, has seemed to go

from terrific (the best he's ever been) to not understanding a word anyone says,

going around the house

grunting and blinking, in his own little world. I guess I shouldn't have

mentioned this to the doctor, as

she is putting it into the picture without even having seen him yet.

Arrants@... wrote:

> From: Arrants@...

>

> In a message dated 10/22/1999 3:09:13 PM Eastern Daylight Time,

> sfitzger@... writes:

>

> > when I briefly described 's symptoms (pale optic nerves,

> > nystagmus, developmental delay)

> > she said that whenever you have neurological symptoms such as those the

> > clinical diagnosis is always

> > Leighs disease.

>

> Steve, when I read this, the accent seemed to be on the word " clinical. " Is a

> clinical diagnosis different from other types of diagnosis? Maybe the

> diagnosis arrived at on the basis of presented symptoms as opposed to

> testing? I have several diagnoses based on various criteria, but the biopsy

> showed something else altogether. I'm not an MD, so do check it out.

>

> the Elder

>

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

by mitochondrial disease.

October 23, 1999

" Caring! " That is definitely the kind of doctor we want. I could tell from my

telephone conversation

with Dr. Kelley that he was kind and optimistic and very, very smart. I just

can't deal with these other

doctors who are so down and so clinical. The neurologist at Children's who saw

in August had the

nerve to say to me, " Well, if you find out he is going to die you'll go home,

cry, and you'll get over

it. " I just couldn't believe how cold that was. Yes, I will go home and cry,

but I won't GET OVER IT.

Sometimes I feel that doctors look at parents of sick kids and just can't seem

to put themselves in their

shoes. Particularly when they have perfectly healthy kids of their own. It's

as if they have a right to

be patronizing because they are the experts and we are just the stupid, helpless

parents who bore

imperfect children. As if somehow this is our fault and we should be prepared

to face the consequences.

Yes, please do keep your fingers crossed about Dr. Kelley. He is definitely the

man for us.

SDidinsky@... wrote:

> From: SDidinsky@...

>

> In a message dated 10/22/99 8:46:23 PM Eastern Daylight Time,

> sfitzger@... writes:

>

> << did send 's info to Dr. Kelley, and he promised he'd review it

> and call me, but said that he isn't seeing any more patients (right now he

> has 50 mito kids alone, not to

> mention all the other genetic patients). I do have a little pull, as a good

> friend of ours works for the

> Chairman of Genetics at Cedars Sinai. She had the Chairman place a personal

> call to Dr. Kelley yesterday

> and he said that, after looking over 's records, he might agree to see

> him as a patient >>

>

> :

>

> I will keep my fingers crossed. Dr. Kelley is an amazing man. We met him when

> Clayton was inpatient at KKI for 9 weeks and that is when he gave us the

> diagnosis. We just had a follow up with him a week ago. He was with us for

> over 2 hours and answered all our questions and is just a great doctor and so

> caring. Hope that you can get to seehim.

>

> Love,

> sharon

>

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

by mitochondrial disease.

October 23, 1999

" Caring! " That is definitely the kind of doctor we want. I could tell from my

telephone conversation

with Dr. Kelley that he was kind and optimistic and very, very smart. I just

can't deal with these other

doctors who are so down and so clinical. The neurologist at Children's who saw

in August had the

nerve to say to me, " Well, if you find out he is going to die you'll go home,

cry, and you'll get over

it. " I just couldn't believe how cold that was. Yes, I will go home and cry,

but I won't GET OVER IT.

Sometimes I feel that doctors look at parents of sick kids and just can't seem

to put themselves in their

shoes. Particularly when they have perfectly healthy kids of their own. It's

as if they have a right to

be patronizing because they are the experts and we are just the stupid, helpless

parents who bore

imperfect children. As if somehow this is our fault and we should be prepared

to face the consequences.

Yes, please do keep your fingers crossed about Dr. Kelley. He is definitely the

man for us.

SDidinsky@... wrote:

> From: SDidinsky@...

>

> In a message dated 10/22/99 8:46:23 PM Eastern Daylight Time,

> sfitzger@... writes:

>

> << did send 's info to Dr. Kelley, and he promised he'd review it

> and call me, but said that he isn't seeing any more patients (right now he

> has 50 mito kids alone, not to

> mention all the other genetic patients). I do have a little pull, as a good

> friend of ours works for the

> Chairman of Genetics at Cedars Sinai. She had the Chairman place a personal

> call to Dr. Kelley yesterday

> and he said that, after looking over 's records, he might agree to see

> him as a patient >>

>

> :

>

> I will keep my fingers crossed. Dr. Kelley is an amazing man. We met him when

> Clayton was inpatient at KKI for 9 weeks and that is when he gave us the

> diagnosis. We just had a follow up with him a week ago. He was with us for

> over 2 hours and answered all our questions and is just a great doctor and so

> caring. Hope that you can get to seehim.

>

> Love,

> sharon

>

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

by mitochondrial disease.

October 24, 1999

,

Being " clinically " diagnosed with Leigh's as I understand it

means that a person has a certain set of symptoms that are

usually associated with the disease. It is possible to have

Leigh's and have a normal MRI. But Leigh's is a broad term

that does not speak to the specific type of defect. There

is an excellent review of an article by S. Rahman, et al. on

Leigh's--I believe it is available on the UMDF web site. Of

the children participating in the study, 12% had a normal

CT/MRI.

IF (and it is a big if) does have Leigh's, it is not a

death sentence. Kids are living much, much longer and

healthier lives than they used to.

Just a little added info...

, Mom to Adelaine and Baby ?

--

The s

, , Adelaine and Baby?

Ann Arbor, MI

http://www.mich/com/~jaj

October 24, 1999

Hi .

My kids only have a few of the symptoms of Leigh's too, yet the docs

still seem pretty sure. Not positive, but I think it's their best guess

given the symptoms. None of the specific DNA defects that are known to

cause Leigh's has been found. My kids don't generally have high lactic acid

levels, optic nerve atrophy (of course we haven't been to the ophthamologist

yet this year) nor do they have seizures. But they do have the lesions in

the Thalamus and I guess that is a pretty good indicator. Really other than

the MRI results everything else is normal (with regard to lab work). They

do have nystagmus. I never ever noticed it before but the docs said they

have it. Of course now it's getting bad. Some days their eyes will just

move from side to side in a smooth manner. It's really scarey looking at

them. They can't control it at all. And sometimes does the same

thing with his whole head. It will like twitch back and forth. They are

both severely hypotonic, developmental delay, and I don't know about the

reflexes. They don't have ataxia, but are dystonic. I know the life

expectancy throws you, but don't let it take over. I have talked to people

whose kids died at 2 months old and others who are in their teens. It all

depends on the amount of mitochondria affected. Even with both the boys

having this their severity is so different. has regressed so much

faster than Chris. However, is now starting to regress a bit. One

thing that has never regressed though is their intelligence. It may be

harder for them to talk and communicate now, but they have not " lost "

anything. I'm sure I didn't cheer you up any , but it is possible to live

a good life knowing your kids have this disease. Or are suspected of having

it. It can only be 100% diagnosed post mortem. Good luck...

Sue ( & Jack)-worn out parents to the greatest kids on earth in Las Vegas, NV

Chris-9: Leigh's Disease (?), MR (mild), hypotonia, non-walker/talker

-8: Leigh's Disease (?), MR (mild), hypotonia, non-walker/talker, trach

tube (larynotracheomalasia), g-tube/fundo Visit us! http://u2.lvcm.com/jscb

October 24, 1999