Re: Home from NY city

[Guest guest]

---Welcome back, it nice to have you back online. It sounds like you

had a productime appointment with Dr Hirano. Hopefully when all of

the information comes in you will get treatment that will make you

feel better. Keep us posted.

warm Hugs,

dawn

In , LILQT4U1984@a... wrote:

> We arrived home late Mon. It was a very taxing trip on my body,

but we had

> some fun times and really got to see alot too. I saw Dr. Hirano

and he was

> wonderful. Spent about 2 hrs with me and was very thorough. He did

a

> neurological exam and found some things that had never been

discovered before. Not sure

> on the spellings of the conditions so I won't even attempt. It

all pointed to

> severe malfunction of my autonomic nervous system. He said I had

peripheral

> neuropathy and a multi system neuromuscular disease but not sure

of the

> primary disease at this time. Unlike Dr. Cohen he doesn't think

the carnitine

> deficiency is primary. He took another skin biopsy too. Dr.

Hirano has been

> requesting my muscle specimen from CCF for months and as of

yesterday it still had

> not arrived. He even called during my appt and couldn't get

anywhere with

> them. Dr. Hirano said he could tell me something nearly

immediately if he could

> just look at the muscle sample. It's being considered that I have

a rarer

> than rare conditon not even seen before called Oligiomyopathy. I

can't even

> find the word on the internet. He didn't say if or what could

done about it, but

> just that it would even more rare than mitochondrial myopathy

generally

> speaking. He made mention that they could introduce chromosones

and that would

> help them determine genes? Over my head...and years down the road

but

> interesting. I had an MRS done and those results aren't back yet.

He ordered some

> bloodwork but nothing unusual or new. He left for Japan right

after my appt so I

> won't hear anything for at least another week. Nothing was

discussed as far

> treatment since we don't know exactly what were dealing with yet.

Still

> waiting on the carnitine gene study in Atlanta too. I know it's

been done since

> Nov. 1st and Schoffner just hasn't signed off on it. Both Cohen's

and Hirano's

> offices have called and requested it too. I asked Dr. Hirano

about a bone

> marrow transplant and he said I wasn't a candidate for that and

the first one for

> a MNGIE patient was being done next month. I'll keep you updated

as I hear

> more. Appreciated your prayers while I was away. Glad to be home

again and

> back online.

>

>

>

[Guest guest]

, try a Google search for oligo +myopathy and that pulls up some

references, highly technical though and beyond me, but at least something. I

think the preface is oligo, not oligio. But you're right, PubMed or Google

have nothing on either oligomyopathy or oligiomyopathy, but both pull up

references when entered as oligo +myopathy.

Sounds like you are getting wonderful help from Dr. Hirano. If the

technology exists to crack your case, he will do it. The lack of cooperation

between institutions is, I'm afraid, quite typical and thoroughly

infuriating. Researchers get very possessive of ground-breaking cases and

resist sharing information with " outside " colleagues, even though the

patient would clearly benefit. This happened to me more times than I care to

count. Sometimes I could cheerfully take a baseball bat to the professionals

who indulge in this behavior. It's like a bunch of two-year-olds squabbling

over a toy-mine! No, mine! Anyway, keep at it! Eventually Dr. Hirano will

get what he needs. Clearly he is interested enough that he will not give up.

What a blessing to have him on your case.

Take care,

Barbara

_____

From: LILQT4U1984@...

Sent: Wednesday, December 15, 2004 9:20 AM

To: mito ;

Subject: Home from NY city

We arrived home late Mon. It was a very taxing trip on my body, but we had

some fun times and really got to see alot too. I saw Dr. Hirano and he was

wonderful. Spent about 2 hrs with me and was very thorough. He did a

neurological exam and found some things that had never been discovered

before. Not sure

on the spellings of the conditions so I won't even attempt. It all pointed

to

severe malfunction of my autonomic nervous system. He said I had peripheral

neuropathy and a multi system neuromuscular disease but not sure of the

primary disease at this time. Unlike Dr. Cohen he doesn't think the

carnitine

deficiency is primary. He took another skin biopsy too. Dr. Hirano has been

requesting my muscle specimen from CCF for months and as of yesterday it

still had

not arrived. He even called during my appt and couldn't get anywhere with

them. Dr. Hirano said he could tell me something nearly immediately if he

could

just look at the muscle sample. It's being considered that I have a rarer

than rare conditon not even seen before called Oligiomyopathy. I can't even

find the word on the internet. He didn't say if or what could done about

it, but

just that it would even more rare than mitochondrial myopathy generally

speaking. He made mention that they could introduce chromosones and that

would

help them determine genes? Over my head...and years down the road but

interesting. I had an MRS done and those results aren't back yet. He

ordered some

bloodwork but nothing unusual or new. He left for Japan right after my appt

so I

won't hear anything for at least another week. Nothing was discussed as far

treatment since we don't know exactly what were dealing with yet. Still

waiting on the carnitine gene study in Atlanta too. I know it's been done

since

Nov. 1st and Schoffner just hasn't signed off on it. Both Cohen's and

Hirano's

offices have called and requested it too. I asked Dr. Hirano about a bone

marrow transplant and he said I wasn't a candidate for that and the first

one for

a MNGIE patient was being done next month. I'll keep you updated as I hear

more. Appreciated your prayers while I was away. Glad to be home again and

back online.

[Guest guest]

Laurie-

CCF says they do have it and then never send it. Even when Dr. Hirano

spoke to the lab tech himself it wasn't sent out. We are at a loss as to what

to do. Glad you finally got your van back. Hope the disability works out for

you. I've filed my SSI disability and should hear something within 90 days.

[Guest guest]

Hi ,

So happy that you are pleased with Dr. Hirano and had a wonderful appointment

with him.

It seems like you got a very thorough examination and he is going down a

different road than what your other Doctors have been down. I hope he is able to

find some answers to your important questions.

I hope that your skin biopsy will shed some light on for him also. Good luck

with all the tests and bloodwork. Keep us updated.

I am sure you are wiped out and need alot of rest. Take care of yourself and

rest as much as possible. Thanks for the update.

Hugs, Ann-Marie

Home from NY city

We arrived home late Mon. It was a very taxing trip on my body, but we had

some fun times and really got to see alot too. I saw Dr. Hirano and he was

wonderful. Spent about 2 hrs with me and was very thorough. He did a

neurological exam and found some things that had never been discovered before.

Not sure

on the spellings of the conditions so I won't even attempt. It all pointed to

severe malfunction of my autonomic nervous system. He said I had peripheral

neuropathy and a multi system neuromuscular disease but not sure of the

primary disease at this time. Unlike Dr. Cohen he doesn't think the carnitine

deficiency is primary. He took another skin biopsy too. Dr. Hirano has been

requesting my muscle specimen from CCF for months and as of yesterday it

still had

not arrived. He even called during my appt and couldn't get anywhere with

them. Dr. Hirano said he could tell me something nearly immediately if he

could

just look at the muscle sample. It's being considered that I have a rarer

than rare conditon not even seen before called Oligiomyopathy. I can't even

find the word on the internet. He didn't say if or what could done about it,

but

just that it would even more rare than mitochondrial myopathy generally

speaking. He made mention that they could introduce chromosones and that

would

help them determine genes? Over my head...and years down the road but

interesting. I had an MRS done and those results aren't back yet. He ordered

some

bloodwork but nothing unusual or new. He left for Japan right after my appt

so I

won't hear anything for at least another week. Nothing was discussed as far

treatment since we don't know exactly what were dealing with yet. Still

waiting on the carnitine gene study in Atlanta too. I know it's been done

since

Nov. 1st and Schoffner just hasn't signed off on it. Both Cohen's and

Hirano's

offices have called and requested it too. I asked Dr. Hirano about a bone

marrow transplant and he said I wasn't a candidate for that and the first one

for

a MNGIE patient was being done next month. I'll keep you updated as I hear

more. Appreciated your prayers while I was away. Glad to be home again and

back online.