I met with the neuromuscular specialist last week on Thursday. The great news is that I passed all of the neurological tests, meaning there is no complete loss of nerve function anywhere, and no complete disconnect between my brain and muscles. So that's the good news :)
The doc wasn't able make any predictions about my diagnosis, but he does feel the it would be very unusual to have two very rare conditions, and so he wants to consider the theory that everything is connected.
1. Lymphoma?
He said that from his perspective, this could still be an indolent (not aggressive) form of lymphoma, or some related condition. He mentioned lymphocytic granulomatosis and neurosarcoidosis. He said these conditions could cause all of the generalized muscle symptoms, fatigues, and sickness that I have been experiencing. He said this kind of condition can also attack the nerve roots, causing the neurogenic changes we saw on the muscle biopsy.
2. Spinal Tap
He said that if this is a lymphoma, or some kind of tumor, there is a good chance that a spinal tap would give us clues about that. We did a spinal tap in 2011 and it showed abnormal antibodies (oligoclonal bands) which are a marker for MS (ruled out) and lymphoma. He wants to see if those oligoclonal bands are still there. There is a small handful of other conditions that occur with these bands, so if they are present, it could be a valuable clue.
If that brain lesion is a tumor, there is also a chance that the spinal fluid could give us a clue about that now, after so many years. So we are doing a spinal tap next week.
3. Vascular Lesion?
We talked about the possibility of a vascular lesion, and he agreed that if this is a vascular lesion, then that means all my muscle and neurological symptoms are not connected to the lesion.
He said the fact that the lesion is growing makes it very important to find the diagnosis.
4. Brain Angiogram
The next step (which has been suggested by three neurologists now) is a brain angiogram. Basically, that is where they make an incision in your leg, and thread a catheter up to your carotid artery and brain, where they will directly inject a dye and take pictures of what is there. So they will be putting a thing inside my brain. Soooo creepy. Ugh. Fortunately, I will be sedated while they do this. This is also happening next week.
5. Vascular Surgeon
The doc said if this test doesn't give us clear answers, then we will likely need a tissue sample, if we are going to get a diagnosis. He is referring me to see Dr. Robert Spetzler, who is (according to this doc) the top vascular surgeon in the world, and he is right here in AZ (awesome!) He said this doc will be able to tell us if there is any safe way to get a piece of one of these lesions, without risking a hemorrhage from the abnormal vessels.
He also said that if we are able to confirm that this is a vascular lesion, this is the doc I would want to treat it. The angiogram will hopefully give us the data we need to plan a treatment. The treatment would likely include tying off the blood supply to the vascular lesion, so it will stop growing, leaking, stealing oxygen...all the crazy things it could be doing to make the scarring and swelling in my brain grow.
6. Muscle MRI
The doc says a closer look at my muscles could better explain the muscle weakness and the biopsy findings of dying nerves. He ordered a muscle MRI to look into this.
7. VGKC Labs
One of the tests that has come back positive is the anti-VGKC test. This could be from a paraneoplastic cause (cancer marker) or it could also be from a neurological condition similar to neuromyotonia. That would actually explain all of my symptoms, so its definitely on the list of possibilities.
I will write updates as I am getting test results. Thanks everyone for your prayers.
The doc wasn't able make any predictions about my diagnosis, but he does feel the it would be very unusual to have two very rare conditions, and so he wants to consider the theory that everything is connected.
1. Lymphoma?
He said that from his perspective, this could still be an indolent (not aggressive) form of lymphoma, or some related condition. He mentioned lymphocytic granulomatosis and neurosarcoidosis. He said these conditions could cause all of the generalized muscle symptoms, fatigues, and sickness that I have been experiencing. He said this kind of condition can also attack the nerve roots, causing the neurogenic changes we saw on the muscle biopsy.
2. Spinal Tap
He said that if this is a lymphoma, or some kind of tumor, there is a good chance that a spinal tap would give us clues about that. We did a spinal tap in 2011 and it showed abnormal antibodies (oligoclonal bands) which are a marker for MS (ruled out) and lymphoma. He wants to see if those oligoclonal bands are still there. There is a small handful of other conditions that occur with these bands, so if they are present, it could be a valuable clue.
If that brain lesion is a tumor, there is also a chance that the spinal fluid could give us a clue about that now, after so many years. So we are doing a spinal tap next week.
3. Vascular Lesion?
We talked about the possibility of a vascular lesion, and he agreed that if this is a vascular lesion, then that means all my muscle and neurological symptoms are not connected to the lesion.
He said the fact that the lesion is growing makes it very important to find the diagnosis.
4. Brain Angiogram
The next step (which has been suggested by three neurologists now) is a brain angiogram. Basically, that is where they make an incision in your leg, and thread a catheter up to your carotid artery and brain, where they will directly inject a dye and take pictures of what is there. So they will be putting a thing inside my brain. Soooo creepy. Ugh. Fortunately, I will be sedated while they do this. This is also happening next week.
5. Vascular Surgeon
The doc said if this test doesn't give us clear answers, then we will likely need a tissue sample, if we are going to get a diagnosis. He is referring me to see Dr. Robert Spetzler, who is (according to this doc) the top vascular surgeon in the world, and he is right here in AZ (awesome!) He said this doc will be able to tell us if there is any safe way to get a piece of one of these lesions, without risking a hemorrhage from the abnormal vessels.
He also said that if we are able to confirm that this is a vascular lesion, this is the doc I would want to treat it. The angiogram will hopefully give us the data we need to plan a treatment. The treatment would likely include tying off the blood supply to the vascular lesion, so it will stop growing, leaking, stealing oxygen...all the crazy things it could be doing to make the scarring and swelling in my brain grow.
6. Muscle MRI
The doc says a closer look at my muscles could better explain the muscle weakness and the biopsy findings of dying nerves. He ordered a muscle MRI to look into this.
7. VGKC Labs
One of the tests that has come back positive is the anti-VGKC test. This could be from a paraneoplastic cause (cancer marker) or it could also be from a neurological condition similar to neuromyotonia. That would actually explain all of my symptoms, so its definitely on the list of possibilities.
I will write updates as I am getting test results. Thanks everyone for your prayers.
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