← Return to Non-diabetic lumbosacral radiculoplexus neuropathy
DiscussionNon-diabetic lumbosacral radiculoplexus neuropathy
Neuropathy | Last Active: Sep 4, 2023 | Replies (24)Comment receiving replies
Replies to "Hi Margaret10. To be honest I am very new at all this. I am still in..."
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.
Your diagnostic journey is much like mine. Initially, we found a mass at the S5-L1 space. When that was removed, my condition improved. A few years later my symptoms returned also with back pain and sciatica. Again I had surgery to fuse L1 through L5. Only short lived relief. A few years later I again had back surgery that necessitated redoing my previous fusions because my bones were weak and not holding the hardware. The surgeon had to fuse now up to T11. All of my back related issues are resolving but not the neuropathy. There has been the question has all this injury to my spinal cord caused the neuropathy. No one has the answer.