As an update, it’s now past one year since my symptoms started. I have been tested for so many different things including ALS, MS, cancer, Lyme disease, HIV and on and on. No cause was found other than an autoimmune disorder. I had COVID a year before and also had the Pfizer vaccine. I suspect that is what caused it but no way to prove it. My last treatment was 12 weeks of steroid infusions that started in October. I have also completed a course of physical therapy. I also go to the gym on a regular basis to strengthen my legs.
I have went from walking with a walker or two canes to now walking on my own. I do use a leg brace when working outside in the yard or situations when I am walking a far distance.
I still am mostly numb from my knee to my foot on my left leg. I take gabapentin and nortryptiline for pain.
It’s been a LONG journey but keep pushing to get my full mobility back. My doctor said it will be a year or two till I get everything back or most of what I had. DON’T GIVE UP! Keep pushing to get better. It’s just a long slow process.
To be honest I am very new at all this. I am still in hospital after my initial diagnosis of ND-LSRN. I presume from the detail of your questions you are a member of the medical profession, so I am working with my consultant to give you accurate answers, hence the delay in reply. I will try to answer your questions in pieces.
Q - How do you get LSRPN diagnosed? MRI?
A – An MRI, Lumbar Puncture and EMG were done and the Lumbar Puncture showed raised proteins and the EMG confirmed the diagnosis of LSRPN.
Q - Is there stenosis (impingement on spinal cord or dorsal root ganglion), scar tissue, inflammation, autoimmunity or tumor(s) in the lumbosacral region?
A – MRI did not show any impingement of the nerve roots and any changes on the spinal cord, systemic autoimmunity was ruled out with blood tests and so was cancer with Lumber Puncture not showing any malignant cells.
Q - Have you fractured any of your lumbar or sacral vertebrate? Do you find that it worsens with rapidly falling barometric pressure? Does the pain in your lumbosacral region (tailbone and buttocks) happen at roughly the same time as pain or numbness in your legs/feet? Have you had your genome sequenced to determine whether there is a genetic predisposition for chronic pain (including lumbosacral pain)?
A – Margaret I will answer this in pieces as applies to me and then try and do an overview.
If this does not make sense please come back and question more.
Q - Have you fractured any of your lumbar or sacral vertebrate?
A – Sorry no, I have never broken any bone in my body
Q – Do you find that it worsens with rapidly falling barometric pressure?
A – I presume you are asking if the weather effect’s my problems?
A - Again a no I have never noticed any impact of barometric pressure on my body
Q - Does the pain in your lumbosacral region (tailbone and buttocks) happen at roughly the same time as pain or numbness in your legs/feet?
A – On this one I have to answer I really don’t know. It is possible, my legs do suffer pain and so does my lower region but I am not sure if that is just from sitting around or other reasons. This is a bit of a please see below comment.
Q - Have you had your genome sequenced to determine whether there is a genetic predisposition for chronic pain (including lumbosacral pain)?
A - Again on this. never had my genome sequenced, not even sure what it is.
I had a journey of diagnosis. First a CT scan and Lumbar puncture. This was followed by a nerve conduction study of approx. 3 hours (painful and in-depth) and then an EMG study on arms and legs. This was followed by an MRI and all within 48 hours.
The diagnosis was clear and given to me within 2 days by my neurologists. My pain is easing with the use of Methyl Prednisone delivered IV. I had 5 treatments in 5 days then three doses in five days for two weeks. I believe I have another approx. 8 treatments to go and then will look to get home and restore some quality of life. While I have fallen twice I have not broken anything or had long term injury. At 69 I feel I still have a lot to recover from and learn about this challenge.
In trying to understand the medical information I have been given and the journey I have travelled in the last 8 weeks please bear with me if this does not make full medical sense.
In discussions with my consultant we believe there is a much larger number of patients suffering from ND—LSRPN.
We have heard of numbers varying from 2 in 100,000 to 9 in 100,000. Applying that to our part of the world it could be as small as 100 in New Zealand or up to 2,250 in Australia. We are keen to find out possible patient numbers and explore ways to assist them.
The following abbreviated items may be of interest
“NSVN with proximal involvement
I have I think NSVN – (Non systemic Vasculitic Neuropathies) affecting the distal and primal limbs with proximal involvement – referred to as Non diabetic lumbosacral radiculoplexus neuropathy.
It appears to be a small group with this condition.
Extensive clinical overlap and variability exists between patients with proximal and distal NSVN. The only large study with proximal involvement was as many as 57 patients with ND-LSRPN. In 2010 this was compared to 48 patients with NSVN. Many phenotypic features were similar but proximal lower limb weakness weight loss and elevated CSF protein levels were more common. Four of the 48 patients had LSRPN that was restricted to lower limbs.
Consensus was that ND-LSRPN is a form of NSVN characterized by proximal lower limb involvement, weight loss and microvascular damage. The condition was not classified as a clinicopathological entity.
Post Surgical Inflammatory Neuropathy
PSIN is a self limited acute neuropathy that emerges within 30 days of a surgical procedure in the absence of a trauma to affected nerves. The condition must develop after the immediate post operative period or if it develops within this period involve nerves from the surgical field. Largest research is 21 patients, median delay 2 days, Almost all patients had combined motor and sensory deficits, 85% had pain. Most common patterns were bilateral lumbosacral radiculoplexus neuropathy and sciatic neuropathy .
All patients were monitored and improved.
A combination of clinical and histopathalogical findings and treatment responses suggest that post surgical inflammatory neuropathy is a self-limited sub-type of NSVN triggered by surgery.
Dear Vincent,
Thank you so much for your detailed response - I really appreciate it. Unfortunately, I'm not a medical professional; I wish I was. I've simply been struggling with lumbosacral and neuropathic pain since 2006. I have a background in biotechnology, so it's reasonably easy to peruse medical journals online looking for answers.
I have had my whole genome (all my DNA) sequenced and they found two different mutations (SDHB and FBXL4 genes). These genes adversely affect mitochondrial function. Mitochondria are the "power plants" of each cell. The mutations mean that some of my cells (nervous tissue, muscle, liver) are likely not getting their energy needs met. The mitochondria have been slowly self-destructing due to the mutations, and the pain is getting worse with time. There is no gene therapy to repair or compensate for the mutant SDHB and FBXL4 genes, and there probably won't be for at least another 5 years. I'm 67 - tick, tock.
I have epilepsy and in one of my falls, I fractured my L4 vertebrate, which ultimately led to compression on my nerve roots and spinal cord. The drugs I take for my epilepsy caused osteoporosis, which is probably why my L4 fractured. Also, the bones in my feet are getting quite porous - also a result of my epilepsy drugs and my peripheral neuropathy.
I also broke bones in my right foot and left ankle due to seizures and neuropathy. Surgery on my left ankle made the PN on that side much worse.
So far, no tumors/cancers, though they do do "tumor surveillance" every two years with MRI. Next week, they'll do an MRI of my whole spine looking for any masses on my spine not only because I have LS radiculopathy, but also because my mutant SDHB has been known for decades to cause a number of cancers including paragangliomas which sometimes sit on your spine.
In short, a lot of my problems (mitochondrial dysfunction, neuropathy, adrenal insufficiency, epilepsy) can be traced back to my mutant SDHB and FBXL4 genes. I've been told that all I can do is treat the symptoms until such time as gene therapy becomes available. No one has started to work on my particular mutant genes.
So, I keep trying to stay on top of latest developments, do physical therapy, take supplements for mitochondrial dysfunction and stay on an anti-inflammatory diet (to avoid cancers).
It's good to know there are other people out there fighting and not giving in to hopelessness.
As an update, it’s now past one year since my symptoms started. I have been tested for so many different things including ALS, MS, cancer, Lyme disease, HIV and on and on. No cause was found other than an autoimmune disorder. I had COVID a year before and also had the Pfizer vaccine. I suspect that is what caused it but no way to prove it. My last treatment was 12 weeks of steroid infusions that started in October. I have also completed a course of physical therapy. I also go to the gym on a regular basis to strengthen my legs.
I have went from walking with a walker or two canes to now walking on my own. I do use a leg brace when working outside in the yard or situations when I am walking a far distance.
I still am mostly numb from my knee to my foot on my left leg. I take gabapentin and nortryptiline for pain.
It’s been a LONG journey but keep pushing to get my full mobility back. My doctor said it will be a year or two till I get everything back or most of what I had. DON’T GIVE UP! Keep pushing to get better. It’s just a long slow process.
My mother has recently been diagnosed with this. Was just wondering how you are progressing now? And has anything showed more success with you rehab? And do you have any other advice you can share? As being so rare we are struggling to find much info.
My mother has recently been diagnosed with this. Was just wondering how you are progressing now? And has anything showed more success with you rehab? And do you have any other advice you can share? As being so rare we are struggling to find much info.
I am slowly getting better. I do not need any canes or a walker. I have also recently stopped using a brace on my leg. Thank God I am healing…ever so slowly! That’s been the hard part is being patient. I’m about 75% healed. April will be two years and hopefully I will have full function.
My advice is to find the best hospital in your area and get care there. I drive 2 hours to Duke University Hospital and get care there. I had 12 weeks of steroid injections and I think they helped. They have side effects: lack of sleep, weight gain but I think they were overall positive. Physical therapy was a big plus and going to the gym was a huge help. Just move…walking is great too. The more movement she can do the better. Good luck and be patient!
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As an update, it’s now past one year since my symptoms started. I have been tested for so many different things including ALS, MS, cancer, Lyme disease, HIV and on and on. No cause was found other than an autoimmune disorder. I had COVID a year before and also had the Pfizer vaccine. I suspect that is what caused it but no way to prove it. My last treatment was 12 weeks of steroid infusions that started in October. I have also completed a course of physical therapy. I also go to the gym on a regular basis to strengthen my legs.
I have went from walking with a walker or two canes to now walking on my own. I do use a leg brace when working outside in the yard or situations when I am walking a far distance.
I still am mostly numb from my knee to my foot on my left leg. I take gabapentin and nortryptiline for pain.
It’s been a LONG journey but keep pushing to get my full mobility back. My doctor said it will be a year or two till I get everything back or most of what I had. DON’T GIVE UP! Keep pushing to get better. It’s just a long slow process.
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4 ReactionsDear Vincent,
Thank you so much for your detailed response - I really appreciate it. Unfortunately, I'm not a medical professional; I wish I was. I've simply been struggling with lumbosacral and neuropathic pain since 2006. I have a background in biotechnology, so it's reasonably easy to peruse medical journals online looking for answers.
I have had my whole genome (all my DNA) sequenced and they found two different mutations (SDHB and FBXL4 genes). These genes adversely affect mitochondrial function. Mitochondria are the "power plants" of each cell. The mutations mean that some of my cells (nervous tissue, muscle, liver) are likely not getting their energy needs met. The mitochondria have been slowly self-destructing due to the mutations, and the pain is getting worse with time. There is no gene therapy to repair or compensate for the mutant SDHB and FBXL4 genes, and there probably won't be for at least another 5 years. I'm 67 - tick, tock.
I have epilepsy and in one of my falls, I fractured my L4 vertebrate, which ultimately led to compression on my nerve roots and spinal cord. The drugs I take for my epilepsy caused osteoporosis, which is probably why my L4 fractured. Also, the bones in my feet are getting quite porous - also a result of my epilepsy drugs and my peripheral neuropathy.
I also broke bones in my right foot and left ankle due to seizures and neuropathy. Surgery on my left ankle made the PN on that side much worse.
So far, no tumors/cancers, though they do do "tumor surveillance" every two years with MRI. Next week, they'll do an MRI of my whole spine looking for any masses on my spine not only because I have LS radiculopathy, but also because my mutant SDHB has been known for decades to cause a number of cancers including paragangliomas which sometimes sit on your spine.
In short, a lot of my problems (mitochondrial dysfunction, neuropathy, adrenal insufficiency, epilepsy) can be traced back to my mutant SDHB and FBXL4 genes. I've been told that all I can do is treat the symptoms until such time as gene therapy becomes available. No one has started to work on my particular mutant genes.
So, I keep trying to stay on top of latest developments, do physical therapy, take supplements for mitochondrial dysfunction and stay on an anti-inflammatory diet (to avoid cancers).
It's good to know there are other people out there fighting and not giving in to hopelessness.
-
Like -
Helpful -
Hug
3 ReactionsMy mother has recently been diagnosed with this. Was just wondering how you are progressing now? And has anything showed more success with you rehab? And do you have any other advice you can share? As being so rare we are struggling to find much info.
I am slowly getting better. I do not need any canes or a walker. I have also recently stopped using a brace on my leg. Thank God I am healing…ever so slowly! That’s been the hard part is being patient. I’m about 75% healed. April will be two years and hopefully I will have full function.
My advice is to find the best hospital in your area and get care there. I drive 2 hours to Duke University Hospital and get care there. I had 12 weeks of steroid injections and I think they helped. They have side effects: lack of sleep, weight gain but I think they were overall positive. Physical therapy was a big plus and going to the gym was a huge help. Just move…walking is great too. The more movement she can do the better. Good luck and be patient!
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Helpful -
Hug
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