The Quick Update - 2015
Four years ago, I was very healthy and very active. I was an account manager for a digital advertising company. I worked full time, managed over 160 clients, hit the gym 3-5 times a week, ate healthy, traveled far and wide, and never needed anything more than an urgent care doctor.
In Sept-Oct 2011, I got really sick, eventually couldn't walk, and we found a giant lesion in my brain. They spent months trying to determine if the lesion was a rare version of MS (called Tumefactive MS), a lymphoma, or a tumor. After a spinal tap, they decided it was most likely Tumefactive Multiple Sclerosis. In that first year I spent over 90 days in the hospital, and had to re-learn how to walk, due to extreme muscle weakness and nerve damage. I worked with Barrow Neurology and the Mayo Clinic during that time. I was extremely sick for about two years, then things started to even out. (I'm obviously skipping alot here!)
In 2014 I spent a great deal of time managing my health, but as long as I stayed on top of my strength training, healthy eating, bedtimes, and didn't do too much or stay up too late, I was pretty steady. My brain lesion seemed to stabilize, and I assumed it would be a non-issue, moving forward. During that year I met and fell in love with James, who I married in April 2015 (that's really the best part of this story!!)
In late August of 2015, I started having almost constant sick days--I just felt run down, the way you would during a nasty flu. Tired, achy--even small things feel like big chores. I started noticing weakness in my legs, and spent several weeks pretending it wasn't happening. (Sometimes that works, and things go away!) Eventually my legs got so weak that climbing stairs and doing daily activities became difficult and started causing pain, as my muscles were no longer supporting my joints properly. We noticed a significant amount of muscle atrophy in my quads, which was really upsetting to me, because I worked really hard to rebuild those muscles!! Doctors ordered an open muscle biopsy of my leg (a three inch incision--ouch!) which showed muscle denervation---basically, the nerves in my muscles are dying, so in certain spots my muscles are not connected to my brain.
A recent MRIs shows that my stupid brain lesion is growing (I have gotten three opinions). Neurologists are saying that at this point it looks most like a slow growing tumor (glioma) or a vascular malformation. They all have different opinions about which is more likely, but they all agree that it's important to find out what it is. Obviously you can imagine the risks of a tumor. For the vascular malformation, they say it would likely be a capillary type malformation, a sub-type of an AVM. As if the biopsy wasn't risky enough (the lesion sits in the part of my brain that controls speech and voluntary muscle control) one doc said that if we try to biopsy this and it turns out to be a vascular mass, it would cause a hemorrhage in my brain. Obviously that's bad. So we are going to do everything we can to find a diagnosis without a biopsy. That means long days and expensive tests.
All my docs agree that whatever is causing this brain lesion is likely separate from most of my symptoms (Fatigue, leg muscle weakness, arm/hand stiffness, muscle atrophy, nerve pain, leg pain, muscle twitching, abnormal reflexes, feeling sick, etc) Meaning I have this brain lesion and a separate neurological condition. More details in the full update below, but they are thinking it could be MS, Myasthenia Gravis, Stiff Person Syndrome, Neuromyotonia, or a handful of other neurological conditions. So they are running tests for that too.
That's the basic update. See full update below for more details, or specifics on which tests we are going to run. Thanks so much for all the prayers and support, it means so much to me and to my family.
The Full Update - 2015
Sept 2011 - I was sick for 8 weeks. General symptoms, I thought I had a virus at first. Exhausted, achy, feeling like I got hit by bus. During that time, I was testing positive for things like Rocky Mountain Spotted Fever, Typhus, Valley Fever, and a list of others. These tests were concluded to be false positive, and triggered by whatever storm was raging in my body.
Oct 2011 - I was having trouble walking up the stairs and trouble walking in general. We went to the ER where they ran a series of tests and I was admitted to the hospital. An MRI showed a giant lesion in my brain. They began tests to differentiate between a rare version of MS, lymphoma, or a tumor. A spinal tap showed oligoclonal bands and it was concluded that this was a rare version of MS called Tumefactive Multiple Sclerosis.
Oct-Dec 2011 - They kept me in the hospital for six weeks. Part of that was spent in the ICU, where I wasn't sure if I would survive to figure out what was making me sick. After some level of recovery, my legs were much weaker and I was transferred to an inpatient physical therapy rehab program.
Dec-Feb 2012 - Home health physical therapist came to my home 3x per week and I continued my recovery.
Feb 2012 - Met with docs at Barrow Neurology where they agreed my brain lesion was most likely Tumefactive MS. I was told that my brain lesion was still enhancing (meaning still alive and active) which was very unusual and concerning for an MS lesion. They said aggressive treatment was often necessary to calm a lesion of this size.
Feb 2012 - Admitted to the hospital for five days of plasmapheresis (they put a line into my neck and filtered all my blood through a machine to remove all plasma and antibodies). We also did another round of high dose steroids. Steroids made me very sick, no noticeable improvement from either treatment.
March 2012 - Admitted to the hospital for difficulty speaking. The lesion was still enhancing at this time, and hospital neuroradiologists were recommending lymphoma as the likely diagnosis and suggesting we do a biopsy. My clinic doctor would not let them, because the lesion is in a part of my brain that controls speech and voluntary muscles.
March - Oct 2012 - Monthly MRIs to follow the brain lesion. Some minor changes, and the lesion continued to enhance, but neurologists and neurosurgeons agreed that a biopsy needed to be a last resort because of the danger.
Oct 2012 - Overnight at the hospital for extreme head pressure
Dec 2012 - My Barrow doctor concludes that this lesion is less likely to be MS because the lesion continues to enhance. He said this is very unusual and the only ones he trusted for a second opinion were Mayo Clinic. My Barrow doc was moving to Texas, so he referred me over to Mayo for my continuing care.
Dec 2012 - I had a scan run my MD Anderson, where they suggested this could be a vascular lesion or malformation of some kind.
Early 2013 - Mayo docs agree this lesion is strange, but they do not agree with the vascular suggestion. The neurologists have their internal radiologists look through my scans. The report stated that the lesion had grown from 1.7 x 1.3 cm on axial images to 2.7 x 2.0. The report also said, "This is a very unusual lesion. Tumefactive MS is one possibility. Although imaging features are atypical for neoplasm (tumor), follow up imaging is recommended."
2013 - Mayo runs EMG study, which is inconclusive. They said without acute symptoms it can be hard to get true results.
2013 - I have scattered lung nodules (greater than 10) that resolve over the course of a 9 month period. Mayo docs say it is likely this is caused by the same disease as my brain lesion, but they never make a connection.
2013 - Mayo runs a PET scan, hoping to find another mass (haha, yes hoping) that they could more easily biopsy. They felt a biopsy was important, but agreed it was too risky in my brain. PET scan showed few glowing lymph nodes, likely insignificant.
2014 - MRI shows the brain lesion is unchanged, I am feeling lots better, so I decide to forget about the whole thing!! I continue to struggle with fatigue, cognitive fuzziness, and some other day-to-day limitations, but I learn to manage them and enjoy every good day.
2014 - I meet James, we date the whole year, and get engaged in December.
2014- 2015 - I am carefully managing my health through limiting my activities, doing strength training, getting lots of sleep, eliminating certain things from my diet, and making green juice every day. It is a full time job keeping up with it, but it definitely helps!
April 2015 - James and I get married!!
Sept 2015 - I start having regular sick days, and my leg muscles and hip muscles are feeling weak.
October 2015 - Hip and leg muscles are so weak they are causing horrible pain in my knees, hips, lower back. I feel unsteady when walking, I can barely make it through my days, and climbing stairs in our house is very difficult.
October 2015 - I am losing significant amounts of muscle mass in my quads
October 2015 - My doctor orders a muscle biopsy, which shows "muscle denervation, without evidence of reinnervation" and a series of other things. It rules out primary muscle disease, and lets us know this is a neurological disease affecting my leg muscles, but it doesn't tell us which disease.
November 2015 - My right leg (where they took the biopsy) starts to lose more of its mass. We measured an inch of muscle lost in my right leg, that didn't happen in my left. I get horrible pain in my right knee because my muscles are not supporting it properly. I start physical therapy, and start wearing a brace to help support my right leg and protect my knee.
November 2015 - I start to notice stiffness in my hands. I can still use them, but they feel stiff and often contract in weird ways when I am not paying attention.
November 2015 - Muscle twitching and nerve pain all get worse, especially at night.
July-Nov 2015 - I fight with my insurance to let me go to the Mayo clinic. Mayo and all my other docs write letters to the insurance, stating that Mayo are the only ones who can help me with my complex case. In the past I have paid out of pocket, but can't afford it now. My insurance company requires me to see another neurologist first (who takes one look at my case and says its too big for him) and then they refuse to let me see Mayo anyways.
November 2015 - My interim neurologist runs a new MRI for me, but states that he does not feel qualified to handle my case, and recommends I find a way to get into Mayo. He writes a letter stating this to my insurance company.
November 2015 - I reach out to my old neurologist (Dr. Darin Okuda) from Barrow (the one who moved to Texas). He knows my case better than any other doctor, and wondered if he could help, given the situation. He looks at my MRI, then calls to give me results. He says my brain lesion is growing, which is obviously a problem. He suggests that at some point we may have to do a brain biopsy. Of all the docs to recommend that, he is the only one I would trust to make that call (he protected me from it so many times in the past!) But he said hopefully there are still tests we can run before that. He recommends a neurologist (who takes my insurance--yay!!) that he used to work with, and says he will coordinate with her and catch her up on my case. The new neurologist is Dr. Stacy Donlon.
December 2015 - I meet with my new neurologist. She agrees with Dr. Okuda that we need to figure out what this is. We discuss the following items
- She believes there are two things happening here. A brain lesion and a neurological disease. She said its the only thing that makes sense. So we are searching for two answers now. Tests on the brain lesion, and tests to figure out why I'm having muscle weakness, fatigue, nerve pain, stiff hands, etc.
- We need to rule out the possibility of a vascular lesion. It has to be considered, before we think of a biopsy. She suggests this could be a cavernous malformation.
- Doc states that in her opinion, this brain lesion looks more like a glioma (tumor) than anything else. She said these gliomas can be slow growing for 3-5 years, and then start growing rapidly. She is very straight with me that there could come a day when a biopsy is our only move. She states that she will do everything she can to get us some answers without a biopsy.
- Doc says my symptoms make her think Myasthenia Gravis or Stiff Person Syndrome
- Neuro tests point to Myasthenia or similar condition (muscle weakness increases with repeat testing)
- Reflexes abnormal: Arm reflexes brisk and ankle reflexes absent. Knee reflexes normal.
- We talked about the smaller lesions in my brain. She said they appear to have resolved, but its possible we are just not seeing them in current scans (the MRI machine takes pictures at certain intervals, so it can miss things). She wants a complete scan to see if the smaller lesions are still there. Either way, its a clue about what's going on. If they have actually resolved, it could mean that the neurological process here is Multiple Sclerosis. So that would mean a giant lesion AND MS. The bigger lesion is definitely not part of it.
- Doc orders several tests, including a
1. A repeat MR Spectroscopy (to measure chemicals in my brain) this often can give clues about what is growing there. We did one in 2011 and it was inconclusive.
2. A complete brain MRI (looking for those smaller lesions.)
3. Complete T-spine and C-spine MRIs (She wants to see if anything in my spine accounts for my leg weakness, and wants to see if there is any evidence there of MS or other neurological disease.)
4. Nerve conduction studies of both arms and both legs (looking for answers to muscle weakness, stiff hands, and abnormal reflexes).
5. Paraneoplastic Panel of labs, looking for cancer markers.
6. Tests for Stiff Man Syndrome
7. Tests for Myasthenia Gravis (i tested positive for antibodies in the past.)
8. Tests for Williams Syndrome and Copper Toxicity
9. Tests for a variety of other neuro conditions
10. PET scan of my brain
December 2015 - My bishop has an uncle that is a neuro radiologist. I get the chance to speak with him. He agrees that the giant lesion could not be MS. He agrees that there are probably two things going on --the lesion and a separate condition. He agrees that the brain lesion is growing, and states that he feels it is either a low grade glioma (slow growing tumor) or a vascular malformation, specifically a capillary type malformation, which is a sub-type of AVM. He says that in his opinion, the vascular malformation is more likely, but its a very unusual lesion, so its hard to say with certainty. He said the enhancement should be growing it if was a glioma, but its more of the swelling and scarring in my brain that seems to be growing, which he believes makes a vascular lesion more likely. He said that even if its a vascular lesion, we will need to consider treatment (I didn't know that). He said that a vascular lesion like this could hemmorage and cause permanent damage because of where it's located. He said that would be something to discuss with my docs when we get a diagnosis. He also said that in his opinion, he would NOT biopsy this because if it was a vascular lesion and we tried to biopsy, we could cause a hemmorage. He suggested we start with an MR Spectroscopy and CT Angiogram. He said if the CT Angiogram is not conclusive, we should do a traditional Angiogram (where they put a catheter into the vessels and send it to the problem spot for imaging). He said to keep in touch with further results, and was very helpful. It was really amazing to talk to a neuroradiologist. I have only ever talked to neurologists in the past. I've always been very tuned into to diagnostic
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[ARCHIVE]
The Update from back in 2012:
For anyone just catching up, here is the short version of my story. I got sick in mid September (2011) with horrible joint and muscle aches, dizziness, pressure in my head, cognitive difficulty, balance issues, etc. On October 28th, after seeing an infectious disease specialist, I was diagnosed with Rocky Mountain Spotted Fever, and Typhus, which turned up positive on my labs. I was subsequently started on Doxycline and Acyclovir as treatment.
Two days later, on October 30th, I noticed myself stumbling a bit when walking. I assumed I was just exhausted from being sick so long, but within a matter of hours, I could no longer walk more than a few steps without sinking to the ground. Realizing this was most likely not normal (haha) my family took me to the ER.
The hospital decided to admit me, and we ran every test the docs could think of, including a CT scan, full brain and spinal MRIs with and without contrast (3+ hours in the MRI machine!), a spectroscopy MRI, a lumbar puncture, a couple hundred lab tests (literally!), three different nerve conduction studies, and several other neurological tests. Our findings? A large (28x27mm) lesion in my brain that enhances with contrast, 5+ Oligoclonal bands in my spinal fluid, and some abnormalities on my nerve conduction studies. This information sent the doctors on a confusing path of trying to determine a diagnosis. (Rocky Mountain Fever and Typhus were declared false positives) Because of its size, mass, and enhancement, the lesion in my brain seemed like some sort of lymphoma or astrocytoma. The actual appearance of the damaged brain tissue, plus the oligoclonal bands, and my symptoms, were more suggestive of Multiple Sclerosis. But by very definition, MS presents with small, multiple, lesions of the brain and spinal cord. That started the beginning of what can only be considered a diagnostic nightmare. Dr. House would have loved this case!
I was in the hospital for a total of six weeks, including several days in the ICU (things got scary for awhile), and four weeks in acute rehab, trying to regain my ability to walk. I then spent two additional months at home, with physical therapy coming to my house.
On January 3rd 2012, I wrote, "As for diagnosis, I have been undiagnosed with MS, then re-diagnosed, then undiagnosed. Haha. Nobody knows. In collecting all my medical records, I have the chance to read doctors notes and updates. Three of them have specifically written notes about this being "an extremely complicated case." I had one doctor tell me I am a "zebra in the zoo" and one doctor tell me i am a "duck that doesn't look like a duck or quack like a duck."
Beginning of the Diagnosis
By the time February arrived, I was walking around with minimal assistance, and transitioning to outpatient physical therapy. After waiting several months to get into a doctor at the Barrow Neurological Institute, the time had arrived to see if we could finally find some answers and a diagnosis. The night before my appointment, I was extremely nervous, fearing this would be another dead end with no answers. Surprisingly, I was wrong!
After the appointment, on Feb 9th, I wrote:
"First off, this neurologist is amazing! He is everything I have been hoping and praying for. He is smart, compassionate, charismatic, took time to explain my case and his thoughts, and also explained exactly what he was looking for and noticing while he did my neuro exam!! ...The biggest news of all? This doctor is so smart and experienced, that he isn't baffled by my case at all! He explained exactly what he was looking at, how he thought the many puzzle pieces fit together, and why he was thinking what he was thinking!....and best of all, he was confident in his assessment. Up to this point, doctors haven't been able to do much more than exclaim about my unusual case and how they wish they had answers for me. I am so grateful to have found this neurologist! For anyone wondering, he is Dr. Darin T. Okuda. Thanks to everyone who was praying for me to find an amazing, and helpful doctor. That prayer has been answered!
This doctor's conclusions from February 9th, 2012:
Four years ago, I was very healthy and very active. I was an account manager for a digital advertising company. I worked full time, managed over 160 clients, hit the gym 3-5 times a week, ate healthy, traveled far and wide, and never needed anything more than an urgent care doctor.
In Sept-Oct 2011, I got really sick, eventually couldn't walk, and we found a giant lesion in my brain. They spent months trying to determine if the lesion was a rare version of MS (called Tumefactive MS), a lymphoma, or a tumor. After a spinal tap, they decided it was most likely Tumefactive Multiple Sclerosis. In that first year I spent over 90 days in the hospital, and had to re-learn how to walk, due to extreme muscle weakness and nerve damage. I worked with Barrow Neurology and the Mayo Clinic during that time. I was extremely sick for about two years, then things started to even out. (I'm obviously skipping alot here!)
In 2014 I spent a great deal of time managing my health, but as long as I stayed on top of my strength training, healthy eating, bedtimes, and didn't do too much or stay up too late, I was pretty steady. My brain lesion seemed to stabilize, and I assumed it would be a non-issue, moving forward. During that year I met and fell in love with James, who I married in April 2015 (that's really the best part of this story!!)
In late August of 2015, I started having almost constant sick days--I just felt run down, the way you would during a nasty flu. Tired, achy--even small things feel like big chores. I started noticing weakness in my legs, and spent several weeks pretending it wasn't happening. (Sometimes that works, and things go away!) Eventually my legs got so weak that climbing stairs and doing daily activities became difficult and started causing pain, as my muscles were no longer supporting my joints properly. We noticed a significant amount of muscle atrophy in my quads, which was really upsetting to me, because I worked really hard to rebuild those muscles!! Doctors ordered an open muscle biopsy of my leg (a three inch incision--ouch!) which showed muscle denervation---basically, the nerves in my muscles are dying, so in certain spots my muscles are not connected to my brain.
A recent MRIs shows that my stupid brain lesion is growing (I have gotten three opinions). Neurologists are saying that at this point it looks most like a slow growing tumor (glioma) or a vascular malformation. They all have different opinions about which is more likely, but they all agree that it's important to find out what it is. Obviously you can imagine the risks of a tumor. For the vascular malformation, they say it would likely be a capillary type malformation, a sub-type of an AVM. As if the biopsy wasn't risky enough (the lesion sits in the part of my brain that controls speech and voluntary muscle control) one doc said that if we try to biopsy this and it turns out to be a vascular mass, it would cause a hemorrhage in my brain. Obviously that's bad. So we are going to do everything we can to find a diagnosis without a biopsy. That means long days and expensive tests.
All my docs agree that whatever is causing this brain lesion is likely separate from most of my symptoms (Fatigue, leg muscle weakness, arm/hand stiffness, muscle atrophy, nerve pain, leg pain, muscle twitching, abnormal reflexes, feeling sick, etc) Meaning I have this brain lesion and a separate neurological condition. More details in the full update below, but they are thinking it could be MS, Myasthenia Gravis, Stiff Person Syndrome, Neuromyotonia, or a handful of other neurological conditions. So they are running tests for that too.
That's the basic update. See full update below for more details, or specifics on which tests we are going to run. Thanks so much for all the prayers and support, it means so much to me and to my family.
The Full Update - 2015
Sept 2011 - I was sick for 8 weeks. General symptoms, I thought I had a virus at first. Exhausted, achy, feeling like I got hit by bus. During that time, I was testing positive for things like Rocky Mountain Spotted Fever, Typhus, Valley Fever, and a list of others. These tests were concluded to be false positive, and triggered by whatever storm was raging in my body.
Oct 2011 - I was having trouble walking up the stairs and trouble walking in general. We went to the ER where they ran a series of tests and I was admitted to the hospital. An MRI showed a giant lesion in my brain. They began tests to differentiate between a rare version of MS, lymphoma, or a tumor. A spinal tap showed oligoclonal bands and it was concluded that this was a rare version of MS called Tumefactive Multiple Sclerosis.
Oct-Dec 2011 - They kept me in the hospital for six weeks. Part of that was spent in the ICU, where I wasn't sure if I would survive to figure out what was making me sick. After some level of recovery, my legs were much weaker and I was transferred to an inpatient physical therapy rehab program.
Dec-Feb 2012 - Home health physical therapist came to my home 3x per week and I continued my recovery.
Feb 2012 - Met with docs at Barrow Neurology where they agreed my brain lesion was most likely Tumefactive MS. I was told that my brain lesion was still enhancing (meaning still alive and active) which was very unusual and concerning for an MS lesion. They said aggressive treatment was often necessary to calm a lesion of this size.
Feb 2012 - Admitted to the hospital for five days of plasmapheresis (they put a line into my neck and filtered all my blood through a machine to remove all plasma and antibodies). We also did another round of high dose steroids. Steroids made me very sick, no noticeable improvement from either treatment.
March 2012 - Admitted to the hospital for difficulty speaking. The lesion was still enhancing at this time, and hospital neuroradiologists were recommending lymphoma as the likely diagnosis and suggesting we do a biopsy. My clinic doctor would not let them, because the lesion is in a part of my brain that controls speech and voluntary muscles.
March - Oct 2012 - Monthly MRIs to follow the brain lesion. Some minor changes, and the lesion continued to enhance, but neurologists and neurosurgeons agreed that a biopsy needed to be a last resort because of the danger.
Oct 2012 - Overnight at the hospital for extreme head pressure
Dec 2012 - My Barrow doctor concludes that this lesion is less likely to be MS because the lesion continues to enhance. He said this is very unusual and the only ones he trusted for a second opinion were Mayo Clinic. My Barrow doc was moving to Texas, so he referred me over to Mayo for my continuing care.
Dec 2012 - I had a scan run my MD Anderson, where they suggested this could be a vascular lesion or malformation of some kind.
Early 2013 - Mayo docs agree this lesion is strange, but they do not agree with the vascular suggestion. The neurologists have their internal radiologists look through my scans. The report stated that the lesion had grown from 1.7 x 1.3 cm on axial images to 2.7 x 2.0. The report also said, "This is a very unusual lesion. Tumefactive MS is one possibility. Although imaging features are atypical for neoplasm (tumor), follow up imaging is recommended."
2013 - Mayo runs EMG study, which is inconclusive. They said without acute symptoms it can be hard to get true results.
2013 - I have scattered lung nodules (greater than 10) that resolve over the course of a 9 month period. Mayo docs say it is likely this is caused by the same disease as my brain lesion, but they never make a connection.
2013 - Mayo runs a PET scan, hoping to find another mass (haha, yes hoping) that they could more easily biopsy. They felt a biopsy was important, but agreed it was too risky in my brain. PET scan showed few glowing lymph nodes, likely insignificant.
2014 - MRI shows the brain lesion is unchanged, I am feeling lots better, so I decide to forget about the whole thing!! I continue to struggle with fatigue, cognitive fuzziness, and some other day-to-day limitations, but I learn to manage them and enjoy every good day.
2014 - I meet James, we date the whole year, and get engaged in December.
2014- 2015 - I am carefully managing my health through limiting my activities, doing strength training, getting lots of sleep, eliminating certain things from my diet, and making green juice every day. It is a full time job keeping up with it, but it definitely helps!
April 2015 - James and I get married!!
Sept 2015 - I start having regular sick days, and my leg muscles and hip muscles are feeling weak.
October 2015 - Hip and leg muscles are so weak they are causing horrible pain in my knees, hips, lower back. I feel unsteady when walking, I can barely make it through my days, and climbing stairs in our house is very difficult.
October 2015 - I am losing significant amounts of muscle mass in my quads
October 2015 - My doctor orders a muscle biopsy, which shows "muscle denervation, without evidence of reinnervation" and a series of other things. It rules out primary muscle disease, and lets us know this is a neurological disease affecting my leg muscles, but it doesn't tell us which disease.
November 2015 - My right leg (where they took the biopsy) starts to lose more of its mass. We measured an inch of muscle lost in my right leg, that didn't happen in my left. I get horrible pain in my right knee because my muscles are not supporting it properly. I start physical therapy, and start wearing a brace to help support my right leg and protect my knee.
November 2015 - I start to notice stiffness in my hands. I can still use them, but they feel stiff and often contract in weird ways when I am not paying attention.
November 2015 - Muscle twitching and nerve pain all get worse, especially at night.
July-Nov 2015 - I fight with my insurance to let me go to the Mayo clinic. Mayo and all my other docs write letters to the insurance, stating that Mayo are the only ones who can help me with my complex case. In the past I have paid out of pocket, but can't afford it now. My insurance company requires me to see another neurologist first (who takes one look at my case and says its too big for him) and then they refuse to let me see Mayo anyways.
November 2015 - My interim neurologist runs a new MRI for me, but states that he does not feel qualified to handle my case, and recommends I find a way to get into Mayo. He writes a letter stating this to my insurance company.
November 2015 - I reach out to my old neurologist (Dr. Darin Okuda) from Barrow (the one who moved to Texas). He knows my case better than any other doctor, and wondered if he could help, given the situation. He looks at my MRI, then calls to give me results. He says my brain lesion is growing, which is obviously a problem. He suggests that at some point we may have to do a brain biopsy. Of all the docs to recommend that, he is the only one I would trust to make that call (he protected me from it so many times in the past!) But he said hopefully there are still tests we can run before that. He recommends a neurologist (who takes my insurance--yay!!) that he used to work with, and says he will coordinate with her and catch her up on my case. The new neurologist is Dr. Stacy Donlon.
December 2015 - I meet with my new neurologist. She agrees with Dr. Okuda that we need to figure out what this is. We discuss the following items
- She believes there are two things happening here. A brain lesion and a neurological disease. She said its the only thing that makes sense. So we are searching for two answers now. Tests on the brain lesion, and tests to figure out why I'm having muscle weakness, fatigue, nerve pain, stiff hands, etc.
- We need to rule out the possibility of a vascular lesion. It has to be considered, before we think of a biopsy. She suggests this could be a cavernous malformation.
- Doc states that in her opinion, this brain lesion looks more like a glioma (tumor) than anything else. She said these gliomas can be slow growing for 3-5 years, and then start growing rapidly. She is very straight with me that there could come a day when a biopsy is our only move. She states that she will do everything she can to get us some answers without a biopsy.
- Doc says my symptoms make her think Myasthenia Gravis or Stiff Person Syndrome
- Neuro tests point to Myasthenia or similar condition (muscle weakness increases with repeat testing)
- Reflexes abnormal: Arm reflexes brisk and ankle reflexes absent. Knee reflexes normal.
- We talked about the smaller lesions in my brain. She said they appear to have resolved, but its possible we are just not seeing them in current scans (the MRI machine takes pictures at certain intervals, so it can miss things). She wants a complete scan to see if the smaller lesions are still there. Either way, its a clue about what's going on. If they have actually resolved, it could mean that the neurological process here is Multiple Sclerosis. So that would mean a giant lesion AND MS. The bigger lesion is definitely not part of it.
- Doc orders several tests, including a
1. A repeat MR Spectroscopy (to measure chemicals in my brain) this often can give clues about what is growing there. We did one in 2011 and it was inconclusive.
2. A complete brain MRI (looking for those smaller lesions.)
3. Complete T-spine and C-spine MRIs (She wants to see if anything in my spine accounts for my leg weakness, and wants to see if there is any evidence there of MS or other neurological disease.)
4. Nerve conduction studies of both arms and both legs (looking for answers to muscle weakness, stiff hands, and abnormal reflexes).
5. Paraneoplastic Panel of labs, looking for cancer markers.
6. Tests for Stiff Man Syndrome
7. Tests for Myasthenia Gravis (i tested positive for antibodies in the past.)
8. Tests for Williams Syndrome and Copper Toxicity
9. Tests for a variety of other neuro conditions
10. PET scan of my brain
December 2015 - My bishop has an uncle that is a neuro radiologist. I get the chance to speak with him. He agrees that the giant lesion could not be MS. He agrees that there are probably two things going on --the lesion and a separate condition. He agrees that the brain lesion is growing, and states that he feels it is either a low grade glioma (slow growing tumor) or a vascular malformation, specifically a capillary type malformation, which is a sub-type of AVM. He says that in his opinion, the vascular malformation is more likely, but its a very unusual lesion, so its hard to say with certainty. He said the enhancement should be growing it if was a glioma, but its more of the swelling and scarring in my brain that seems to be growing, which he believes makes a vascular lesion more likely. He said that even if its a vascular lesion, we will need to consider treatment (I didn't know that). He said that a vascular lesion like this could hemmorage and cause permanent damage because of where it's located. He said that would be something to discuss with my docs when we get a diagnosis. He also said that in his opinion, he would NOT biopsy this because if it was a vascular lesion and we tried to biopsy, we could cause a hemmorage. He suggested we start with an MR Spectroscopy and CT Angiogram. He said if the CT Angiogram is not conclusive, we should do a traditional Angiogram (where they put a catheter into the vessels and send it to the problem spot for imaging). He said to keep in touch with further results, and was very helpful. It was really amazing to talk to a neuroradiologist. I have only ever talked to neurologists in the past. I've always been very tuned into to diagnostic
-----------------------------------------------------------
[ARCHIVE]
The Update from back in 2012:
For anyone just catching up, here is the short version of my story. I got sick in mid September (2011) with horrible joint and muscle aches, dizziness, pressure in my head, cognitive difficulty, balance issues, etc. On October 28th, after seeing an infectious disease specialist, I was diagnosed with Rocky Mountain Spotted Fever, and Typhus, which turned up positive on my labs. I was subsequently started on Doxycline and Acyclovir as treatment.
Two days later, on October 30th, I noticed myself stumbling a bit when walking. I assumed I was just exhausted from being sick so long, but within a matter of hours, I could no longer walk more than a few steps without sinking to the ground. Realizing this was most likely not normal (haha) my family took me to the ER.
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| In the hospital 11/2011 |
I was in the hospital for a total of six weeks, including several days in the ICU (things got scary for awhile), and four weeks in acute rehab, trying to regain my ability to walk. I then spent two additional months at home, with physical therapy coming to my house.
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| Making progress, learning to walk! 12/2011 |
Beginning of the Diagnosis
By the time February arrived, I was walking around with minimal assistance, and transitioning to outpatient physical therapy. After waiting several months to get into a doctor at the Barrow Neurological Institute, the time had arrived to see if we could finally find some answers and a diagnosis. The night before my appointment, I was extremely nervous, fearing this would be another dead end with no answers. Surprisingly, I was wrong!
After the appointment, on Feb 9th, I wrote:
"First off, this neurologist is amazing! He is everything I have been hoping and praying for. He is smart, compassionate, charismatic, took time to explain my case and his thoughts, and also explained exactly what he was looking for and noticing while he did my neuro exam!! ...The biggest news of all? This doctor is so smart and experienced, that he isn't baffled by my case at all! He explained exactly what he was looking at, how he thought the many puzzle pieces fit together, and why he was thinking what he was thinking!....and best of all, he was confident in his assessment. Up to this point, doctors haven't been able to do much more than exclaim about my unusual case and how they wish they had answers for me. I am so grateful to have found this neurologist! For anyone wondering, he is Dr. Darin T. Okuda. Thanks to everyone who was praying for me to find an amazing, and helpful doctor. That prayer has been answered!
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| With Mom and Sisters 12/2011 |
This isn't typical MS. The lesion is a demyelinating lesion, and the disease is in the MS family. The disease is called Tumefactive MS, and it is fairly unusual. Like regular MS, it can have a one time episode and not come back, or it can convert to more traditional relapsing-remitting MS. When it comes to considering a biopsy of the lesion, the doc pointed out how the lesion is respecting the folds in my brain, not crashing through them, even though it is growing. He says that makes him confident that it is not a tumor. He does acknowledge the possibility that he could be wrong, so we will repeat the MRIs monthly and then bimonthly to keep a close watch on things. He thinks that the spinal MRI's we have done were not sensitive enough, so we will be repeating that tomorrow.
Take Aways from February 9th, 2012
The biggest take-away was not only a working diagnosis of Tumefactive MS, but also an assessment of my brain lesion. He showed me the different views of the MRI scan, and how it is still lighting up with contrast (dye). A demyelination shouldn't do that unless it's still active and growing. It is unusual that my lesion is still growing, since we already blasted it with 1000mg of solumedrol steroids every day for a week, and prednisone for four weeks! But it's still active, and he said our primary focus right now needs to be getting that lesion under control. So he proposed admitting me to the hospital for another round of steroids, and plasmapheresis (a treatment where they cycle out all of your blood several times, separate out your plasma, throw it away, and give you a plasma replacement.)
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| Plasmapheresis for a week 2/2011 |
What Happened From There:
1. On Feb 9th, I was admitted to the hospital for five days of plasmapheresis and IV solumedrol steroids.
2. My follow up MRI showed that the lesion had not responded to the steroids or the plasmapheresis. (its very unusual for neither of these treatments to work)
3. In March, I had a relapse, we found a second small lesion. I was given 1000mg/day of solumedrol steroids, which made me so sick, I landed myself in the hospital again for a week. We will not use steroids again.
4. From February to August, I have had MRIs every month to check for changes, since my lesion was growing from Oct-Feb, and since my lesion has not responded to treatments. We are just making sure nothing is getting out of control.
4. As of August 2012, my brain lesion has not responded to steroids, plasmapheresis, Avonex, or time. My lesion size and lesion enhancement have not improved at all since my very first MRI in October 2011.
5. In August 2012, I had my first Tysabri treatment. My doctor is very hopeful that this will improve my lesion and my quality of life. If it doesn't, then chemotherapy is probably the next step. But we are really hoping that won't be the case, for obvious reasons.
6. At six months, I was in a 2% category of Multiple Sclerosis lesions that enhance persistently. (most MS brain lesions resolve within 6-8 weeks). Now that my brain lesion has been enhancing for eleven months, I am sort of in a zero percent category. Combine that with how rare Tumefactive Multiple Sclerosis is to begin with....and let's just say I am pretty "special!"
6. It will take 8-12 weeks before we will know if the Tysabri is working. We will continue with regular MRIs to keep an eye on everything. It will probably be December 2012 before we can say whether or not the Tysabri is working.
2. My follow up MRI showed that the lesion had not responded to the steroids or the plasmapheresis. (its very unusual for neither of these treatments to work)
3. In March, I had a relapse, we found a second small lesion. I was given 1000mg/day of solumedrol steroids, which made me so sick, I landed myself in the hospital again for a week. We will not use steroids again.
4. From February to August, I have had MRIs every month to check for changes, since my lesion was growing from Oct-Feb, and since my lesion has not responded to treatments. We are just making sure nothing is getting out of control.
4. As of August 2012, my brain lesion has not responded to steroids, plasmapheresis, Avonex, or time. My lesion size and lesion enhancement have not improved at all since my very first MRI in October 2011.
5. In August 2012, I had my first Tysabri treatment. My doctor is very hopeful that this will improve my lesion and my quality of life. If it doesn't, then chemotherapy is probably the next step. But we are really hoping that won't be the case, for obvious reasons.
6. At six months, I was in a 2% category of Multiple Sclerosis lesions that enhance persistently. (most MS brain lesions resolve within 6-8 weeks). Now that my brain lesion has been enhancing for eleven months, I am sort of in a zero percent category. Combine that with how rare Tumefactive Multiple Sclerosis is to begin with....and let's just say I am pretty "special!"
6. It will take 8-12 weeks before we will know if the Tysabri is working. We will continue with regular MRIs to keep an eye on everything. It will probably be December 2012 before we can say whether or not the Tysabri is working.
I will continue to make updates as I have them. Most of my updates are included in the regular feed on the home page of this site.
Thanks for following, and if you have any thoughts, questions, comments, please feel free to include them here, or you can email me at mandyclive@gmail.com
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| Learning to walk again 11/2011 |
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| I think docs ran every test they had in the lab. |
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| My first day out of ICU 11/2011 |
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| Sisters 11/2011 |
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| Practicing balance. 1/2012 |
