Guest guest Posted December 15, 2004 Report Share Posted December 15, 2004 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. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 15, 2004 Report Share Posted December 15, 2004 I'm glad you are home and had some fun along with the appointments. CCF probably doesn't have your biopsy specimen, since it is sent to Dr. Hoppel at another hospital - can't remember at the moment. laurie > From: LILQT4U1984@... > Reply-To: > Date: Wed, 15 Dec 2004 10:19:58 EST > 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. > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 15, 2004 Report Share Posted December 15, 2004 I'm glad you are home and had some fun along with the appointments. CCF probably doesn't have your biopsy specimen, since it is sent to Dr. Hoppel at another hospital - can't remember at the moment. laurie > From: LILQT4U1984@... > Reply-To: > Date: Wed, 15 Dec 2004 10:19:58 EST > 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. > > > Quote Link to comment Share on other sites More sharing options...
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