Home from NY city

[Guest guest]

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.