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Finally, after 20 years of PN a Diagnosis:

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Old 12-19-2007, 03:59 PM   #1
Join Date: Nov 2007
Location: Portland Oregon
Posts: 107
paulo60 HB Userpaulo60 HB User
Lightbulb Finally, after 20 years of PN a Diagnosis:

Just kidding. After connecting with a new neurologist whose specialty is neuromuscular diseases who thought "maybe" all the previous diagnostic tests might have missed something, including a CMT genetic panel which showed a mutation on a DNA gene sequence which is unknown, but did indicate an inherited variant, and subsequently ran all the known lab tests, e.g., electrophoresis, serum immunofixation etc., along with MRI of the brain and spine, and wrapping it all up with quite painful EMG needle testing today, only to conclude, much to my surprise that I have an idiopathic neuroaxonal, severely advanced poly peripheral sensory/motor neuropathy, making it's way to my upper extremities, while continuing it's runaway train ride in the lower extremities. Neither one of us got any hopes dashed, although there is always that anticipation that a test that had previously been negative might become positive, indicating a possibility for a reversible form....but no such luck! I had posted a while back that I would be seeing my neurologist this week and would post the results, so that's that, right back to where I was. Now to hope that gene therapy will devise some application towards a treatment that will help all of us at some point in the near future. As for me, I think I will take a nap and maybe when I wake up I will realize I am only ten years old and have had a really weird dream that I can't understand. Happy Holidays....Paulo

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