I have put off writing this post because it's going to be complicated to explain the diagnosis we are talking about. But I'm going to try, so bear with me because I have no idea how to write all this in simple terms.
So here is the situation. I test positive for anti-VGKC antibodies. Two different labs have confirmed this result, including the Mayo Clinic lab. So what does that mean? First, I have a condition called Peripheral Nerve Hyperexcitability (mostly affects nerves and muscles). Or rather, I have a condition that falls under that heading. There are a few possibilities--Neuromyotonia, Isaacs Syndrome, and Morvan's Syndrome. There isn't any way to know for sure which one I have, but they all cause similar symptoms, including muscle weakness, muscle stiffness, muscle cramps and twitching, delayed muscle relaxation in hands, fatigue, fuzziness, and several other things.
So that would explain most of my symptoms. It is basically an autoimmune condition that causes neurological symptoms. It's interesting, because all along we have thought my symptoms pointed towards and autoimmune condition, but then also seemed like a neurological condition. Apparently it's both.
So the antibodies definitely explain my symptoms. But the question is whether or not they also explain my brain lesions. We aren't sure about that, but it is possible. There is a condition called Autoimmune Encepalopathy that can be caused by those VGKC antibodies. They say my antibody levels are more in line with the systemic (full body) version of the disease, rather than the brain version of the disease, but it is still a possibility. At this point, Autoimmine Encephalopathy seems just as likely as any of the other options, so my doctor wants to move forward with treatment to see if it will prove a diagnosis. The plan is to try a treatment for three months and then repeat the MRI to see if the brain lesion has shrunk or stabilized. (Either way, it will treat my symptoms, which could be amazing!) My doc first tried to get IVIG treatments approved--those are live antibodies that help to neutralize the autoimmune process. My insurance denied that, so our next option is trying to get plasmapheresis treatments approved. That is a treatment that basically removes antibodies from my blood so that hopefully my immune system will have a reset and cause a remission of the autoimmune process. We are hoping and praying that my insurance will approve this, because if they don't we may be out of options. We still can't do a biopsy of that brain lesion, so we have very limited options for diagnosing that side of things.
Hopefully all of this makes sense, I can't even tell. After months of tests and painful, expensive procedures, at least we have half of a diagnosis. I am really grateful for that. Also, my symptoms have been spontaneously improving, and I am sooooo happy about that!! Thank you to everyone who has been praying for blessings and help for us, we are definitely feeling the support. Hope you are all doing well! Xoxo
So here is the situation. I test positive for anti-VGKC antibodies. Two different labs have confirmed this result, including the Mayo Clinic lab. So what does that mean? First, I have a condition called Peripheral Nerve Hyperexcitability (mostly affects nerves and muscles). Or rather, I have a condition that falls under that heading. There are a few possibilities--Neuromyotonia, Isaacs Syndrome, and Morvan's Syndrome. There isn't any way to know for sure which one I have, but they all cause similar symptoms, including muscle weakness, muscle stiffness, muscle cramps and twitching, delayed muscle relaxation in hands, fatigue, fuzziness, and several other things.
So that would explain most of my symptoms. It is basically an autoimmune condition that causes neurological symptoms. It's interesting, because all along we have thought my symptoms pointed towards and autoimmune condition, but then also seemed like a neurological condition. Apparently it's both.
So the antibodies definitely explain my symptoms. But the question is whether or not they also explain my brain lesions. We aren't sure about that, but it is possible. There is a condition called Autoimmune Encepalopathy that can be caused by those VGKC antibodies. They say my antibody levels are more in line with the systemic (full body) version of the disease, rather than the brain version of the disease, but it is still a possibility. At this point, Autoimmine Encephalopathy seems just as likely as any of the other options, so my doctor wants to move forward with treatment to see if it will prove a diagnosis. The plan is to try a treatment for three months and then repeat the MRI to see if the brain lesion has shrunk or stabilized. (Either way, it will treat my symptoms, which could be amazing!) My doc first tried to get IVIG treatments approved--those are live antibodies that help to neutralize the autoimmune process. My insurance denied that, so our next option is trying to get plasmapheresis treatments approved. That is a treatment that basically removes antibodies from my blood so that hopefully my immune system will have a reset and cause a remission of the autoimmune process. We are hoping and praying that my insurance will approve this, because if they don't we may be out of options. We still can't do a biopsy of that brain lesion, so we have very limited options for diagnosing that side of things.
Hopefully all of this makes sense, I can't even tell. After months of tests and painful, expensive procedures, at least we have half of a diagnosis. I am really grateful for that. Also, my symptoms have been spontaneously improving, and I am sooooo happy about that!! Thank you to everyone who has been praying for blessings and help for us, we are definitely feeling the support. Hope you are all doing well! Xoxo
Mandy, its my first time reading your blog. Looks like a huge challenge you and your family is going through. You guys are in our prayers. I am happy to read that your symptoms are improving some - this is hopeful and is making me glad!!!! Hang in there girl!!!! Love, Marzena
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