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.