Problems with mito disease workup - need advice!

July 15, 2004

Hi, everybody -

I need some sympathy and some advice! We went to Hopkins on Tuesday for a big family metabolic genetics appointment, and saw Dr. Wong and Dr. Kahler. It was probably as overwhelming for them as it was for me. I had my 3 kids - one with autism, one with ADHD/Asperger's, one multiply disabled, myself and 's nurse. We know that we are deficient in serum Carnitine and responsive to Carnitor, and we have migraines, GI problems, immune system problems and has had liver disease and cardiomyopathy; and have both had seizures. is on the ketogenic diet, and is on the mito cocktail (and does not look autistic any more). The questions were - what does Carnitine deficiency mean, is it primary or secondary to another mito/metabolic problem, what should we do about it in terms of workup and treatment, and what genetic implications are there - I have a 15 year old daughter who might want to have kids someday? Dr. Kahler is now on sabbatical and will be leaving Hopkins at the end of the summer, so he was there for his opinion and to support the idea that kids with autism can have metabolic problems, but didn't offer any diagnostic or treatment advice. I had done a detailed family history, medical history and meds list on each of the kids and symptom lists for everyone, to try to help out since there were 4 of us. Dr. Wong refused to look at these and took his own history. He then said that he thought it was probable that we have a carnitine transporter protein deficiency, and he would have to look up how to work it up, but to continue the Carnitor. That was fine. He said that mito disease is difficult to work up, and he thought that my kids didn't look sick enough. He also doen't believe that kids with autism can have metabolic issues because there have been only anecdotal reports, and he doesn't believe that the mito cocktail helps anyone! He finally decided to do some screening labs on (the 5 year old with autism) - metabolic profile, lactate, CK, plasma amino acids and urine organic acids. These had been done before and there were some mild abnormalities, but he said that he didn't trust any other lab than Hopkins. He called me today, and 's blood glucose was 31 after a 4 hour fast (and he was whiny and grumpy, but who wouldn't be after spending all afternoon at Hopkins!), and this doc still thinks nothing is going on, but wants it repeated. I think he thinks that I am making this all up for my own satisfaction! I am so mad at myself for allowing myself to put a lot of faith in this visit, and hope that we would finally get some answers. Dr. Kelley had asked me to get the workup this way, because he is not taking on new patients. I am going to email him and ask - where do I go from here? What do you guys think I should do? I've already started a workup on one, but I really didn't like this doc's attitude, and thought that he didn't have much experience in metabolic disease. He did suggest that I take both and off of their special diets and meds/supplements and see whether they crashed, and then do tests, but I can't do that to them. has had 4 regressions, and takes several months to recover (and has lost skills and never regained them). is doing so well that I don't want to mess him up - he starts regular kindergarten in 6 weeks. My pediatrician thinks that I should write him off and start with someone else - does anyone know a Dr. Carol Greene, who will be coming to the University of MD in August?

Sorry to be so long - and I know that I just have to start looking again, but it's very frustrating and tiring. This has been a merciless summer!

Kathy

July 15, 2004

I would first, find another doctor. Any doctor that says a child looks to healthy to have mito, and that the cocktail does not work, should meet my daughter. Grace looks just fine, but has more medical issues than you can imagine a two year old ever could. To see her running around playing with other kids, nobody could guess that she is seriously ill. As far as the mito cocktail is concerned, before the drugs Grace was dying very quickly. She had liver failing rapidly, and at that time, looked very sick. Today her liver is functioning normally, but will always have damage, and she looks and acts well. Yes, she still does have issues, and new ones pop up everytime, but without the cocktail I truly believe she would have died by now.

As far as Carnitine defficiancy goes, it can be a preliminary or secondary diagnosis. Primary Carnitine Defficiancy is very rare, though, and it is usually secondary. A doctor cannot diagnose anyone as Primary until they have tested for all types of metabolic diseases. Being carnitine deficiant is very common in mito. Actually, testing for Gracies carnitine deficiancy was our first step towards an actual mito diagnosis.

Best wishes

,Mommy to (9), (7), Bre-Anne (6), Grace (2) and our newest arrival is due Sept. 20thFor the latest baby info, and to see our family check out:www.BabyCountDown.com?baby=4007

July 15, 2004

Boy it really irks me when I hear yet another doctor to

encourage the " wait and see " philosophy! We were told this after

Asenath had 4 strokes in less than two months and there was

absolutely NO WAY we were going to just sit back and watch her

decline. I am so glad we finally met Dr. Whiteman and have

confidence in his abilities, but we had to go through very rough

waters before seeing him. Asenath is truly fortunate to be alive and

even Dr. Whiteman was very disturbed with her appearance and symptoms

when we first saw him. She is so much better on the coctail and

other meds than she ever was before them. She looks relatively

healthy other than the steroid bloating and a real run down

appearance with viruses. Right now she looks quite run down and I am

worried about her, but compared to prior to seeing Dr. Whitemanthis

is a picnic! If you are not confident this doctor is taking things

serious enough and he wants to take them off meds to SEE if they

crash, I advice seeking help elsewhere! I have dealt with that

attitude for my own health issues since 1990 and it has been my

understanding that docs who don't have answers like to assume there

is no answer to be found. They think we imaine things, exaggerate

things, or create things to happen. Doctors need to learn to be

humble and know they can't understand everything and ask colleges for

help when needed rather than be proud and give up on the kid when

they can't get the answers they want. They also seem to get stuck on

a diagnosis that doesn't even fit sometimes just to have something to

go with. Sorry for the rumbling. It just gets to me to hear the

trouble you are having with the doc.

Darla: mommy to Asenath, Zipporrah, Luke, and the other kiddos

> Hi, everybody -

>

> I need some sympathy and some advice! We went to Hopkins on Tuesday

for a big family metabolic genetics appointment, and saw Dr. Wong and

Dr. Kahler. It was probably as overwhelming for them as it was for

me. I had my 3 kids - one with autism, one with ADHD/Asperger's, one

multiply disabled, myself and 's nurse. We know that we are

deficient in serum Carnitine and responsive to Carnitor, and we have

migraines, GI problems, immune system problems and has had

liver disease and cardiomyopathy; and have both had

seizures. is on the ketogenic diet, and is on the mito

cocktail (and does not look autistic any more). The questions were -

what does Carnitine deficiency mean, is it primary or secondary to

another mito/metabolic problem, what should we do about it in terms

of workup and treatment, and what genetic implications are there - I

have a 15 year old daughter who might want to have kids someday? Dr.

Kahler is now on sabbatical and will be leaving Hopkins at the end of

the summer, so he was there for his opinion and to support the idea

that kids with autism can have metabolic problems, but didn't offer

any diagnostic or treatment advice. I had done a detailed family

history, medical history and meds list on each of the kids and

symptom lists for everyone, to try to help out since there were 4 of

us. Dr. Wong refused to look at these and took his own history. He

then said that he thought it was probable that we have a carnitine

transporter protein deficiency, and he would have to look up how to

work it up, but to continue the Carnitor. That was fine. He said that

mito disease is difficult to work up, and he thought that my kids

didn't look sick enough. He also doen't believe that kids with autism

can have metabolic issues because there have been only anecdotal

reports, and he doesn't believe that the mito cocktail helps anyone!

He finally decided to do some screening labs on (the 5 year old

with autism) - metabolic profile, lactate, CK, plasma amino acids and

urine organic acids. These had been done before and there were some

mild abnormalities, but he said that he didn't trust any other lab

than Hopkins. He called me today, and 's blood glucose was 31

after a 4 hour fast (and he was whiny and grumpy, but who wouldn't be

after spending all afternoon at Hopkins!), and this doc still thinks

nothing is going on, but wants it repeated. I think he thinks that I

am making this all up for my own satisfaction! I am so mad at myself

for allowing myself to put a lot of faith in this visit, and hope

that we would finally get some answers. Dr. Kelley had asked me to

get the workup this way, because he is not taking on new patients. I

am going to email him and ask - where do I go from here? What do you

guys think I should do? I've already started a workup on one, but I

really didn't like this doc's attitude, and thought that he didn't

have much experience in metabolic disease. He did suggest that I take

both and off of their special diets and meds/supplements

and see whether they crashed, and then do tests, but I can't do that

to them. has had 4 regressions, and takes several months to

recover (and has lost skills and never regained them). is doing

so well that I don't want to mess him up - he starts regular

kindergarten in 6 weeks. My pediatrician thinks that I should write

him off and start with someone else - does anyone know a Dr. Carol

Greene, who will be coming to the University of MD in August?

>

> Sorry to be so long - and I know that I just have to start looking

again, but it's very frustrating and tiring. This has been a

merciless summer!

>

> Kathy

July 15, 2004

-

>The questions were - what does Carnitine deficiency mean, is it

primary or secondary to another mito/metabolic problem, what should

we do about it in terms of workup and treatment, and what genetic

implications are there

**Carnitine deficiency can be primary or secondary. The workup is a

simple blood test and the treatment is carnitine supplementaion

either oral or IV depending on severity of def.

- I have a 15 year old daughter who might want to have kids someday?

Dr. Kahler is now on sabbatical and will be leaving Hopkins at the

end of the summer, so he was there for his opinion and to support

the idea that kids with autism can have metabolic problems, but

didn't offer any diagnostic or treatment advice.

*** Why didn't Dr. Kahler offer any help with this situation?

I had done a detailed family history, medical history and meds list

on each of the kids and symptom lists for everyone, to try to help

out since there were 4 of us. Dr. Wong refused to look at these and

took his own history.

***Some doctors are not visual they have to hear it out loud to get

it.

He then said that he thought it was probable that we have a

carnitine transporter protein deficiency, and he would have to look

up how to work it up, but to continue the Carnitor. That was fine.

He said that mito disease is difficult to work up, and he thought

that my kids didn't look sick enough.

*** Didn't look sick enough? What kind of uneducated statement is

that? You expect that from a lay person but not a physician with any

knowledge of mito at all. Tons of mito kids look " normal " that is

the problem being taken seriously. How upsetting to hear that from a

doc.

He also doen't believe that kids with autism can have metabolic

issues because there have been only anecdotal reports, and he

doesn't believe that the mito cocktail helps anyone!

***Well, I know that my daughter has mito and PDD-NOS. It is the

first case in our family.

He finally decided to do some screening labs on (the 5 year

old with autism) - metabolic profile, lactate, CK, plasma amino

acids and urine organic acids. These had been done before and there

were some mild abnormalities, but he said that he didn't trust any

other lab than Hopkins.

***Drs. always feel that their lab is best-we deal with this at the

cleveland clinic too!

He called me today, and 's blood glucose was 31 after a 4 hour

fast (and he was whiny and grumpy, but who wouldn't be after

spending all afternoon at Hopkins!), and this doc still thinks