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synucleinopathy
Anybody test positive for synucleinopathy and with small fiber neuropathy? Synucleinopathy is Neurodegenerative disorders with alpha-synuclein (α-syn) accumulation (synucleinopathies) include Parkinson's disease, Parkinson's disease dementia, dementia with Lewy bodies and multiple system atrophy (MSA). I've been to 6 neurologist's and all have basically given me the same answer, a referral to another neurologist. I've been referred to and contacted and transferred files and gone to the Mayo Clinic in Rochester, they gave me the SFN diagnosis, but they couldn't explain the synucleinopathy other then to say "you have severe neurological issues, see your neurologist when you get home". A Baylor Scott and White Parkinson's specialist in Temple Texas told me from the results of a skin punch biopsy that I have "synucleinopathy, specifically Pure Autonomic Failure and my case is way over his head". Go to U.T. Southwestern Medical Center in Dallas Texas. They got my files and allegedly said (they responded to the Dr, not me. So this is what he said that they said), "you already have the tests, you have the answers and you know the treatment, so we will not take him as a patient". There's a facility in Cincinnati that can help. I contacted them and they said it's to rare of a disease, so there are no studies they have and no one qualified. My primary doc found so called specialists at Stanford University Medical Center in Northern California. So I go there, Dr Dong Sinn spent a whopping 12 minutes with me, had a complete attitude the entire time and told me he can't help and to try the University of California San Francisco. I got a hold of them while I was in Stanford, but they couldn't get me in while I was there. They "might be able to get me in, in a couple months but no guarantee that they even have staff that can help". I live around Austin Texas. I've spent over $30,000 traveling to specialists just to get referrals to other neurologist's, well I did get the small fiber neuropathy diagnosis. At least that explains why I feel like I was hit by a truck everyday. The only known way to confirm which of 5 probable diagnosis is in autopsy. So I just requested to my primary doctor to pick one of the 5 and let's start treatments. If after an adequate amount of time there is no improvement then move on to the next of 5 and so on until we find it or I die from it, whichever comes first. ANYBODY KNOW OF A BETTER ROUTE TO TAKE? I'm out of options, patience, ability to handle this much pain every single day, the tremors, no balance, losing my vision and hearing, my entire digestive tract is now paralyzed, which includes my epiglottis. So now I can't eat because when I swallow it goes straight into my lungs, so now I use a syringe and adult formula through a tube hanging out of my stomach. Half of my bladder is paralyzed, the ueters going from my kidneys to my bladder are paralyzed and now at night my lungs start to shut down while I'm sleeping, sending me into hypoxia with an 0² saturation level in the 70's. My strength is gone, the fatigue is overwhelming and the pain is at an average 8 on a 1 to 10 scale and a couple days a week I'm at a 9.⁹⁹⁹. I'll never say it's a 10, because there are days that are worse than I've ever experienced before. Besides, the day I say 10, is the day I leave this planet. What a nightmare of a life. Good luck to you all. May your cure be found and create a wonderful quality of life for you.
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Hello @sescorp0834 and welcome to Mayo Clinic Connect. It sounds like you have been through a very arduous journey to seek proper care.
You will notice that I have moved your post into the Parkinson's Group and also included it in the Neuropathy Group. It sounds to me like the Synucleinopathy symptoms and lack of conclusive diagnosis is your main concern, so the primary group you will see it listed in is Parkinson's.
I wanted to share with you that Mayo Clinic has a lab and doctors who are focused on this disease area. Here is some additional information if you'd like to learn more:
- YOUNG-ONSET PARKINSON'S DISEASE AND SYNUCLEINOPATHIES: RODOLFO SAVICA:
https://www.mayo.edu/research/labs/young-onset-parkinsons-disease-synucleinopathies/overview
Are you open to another opinion?
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3 ReactionsThere's a paper that suggests that Desulfovibrio infection (with particular, unnamed species) may cause alpha-synuclienopathy. Search for "Desulfovibrio bacteria enhance alpha-synuclein aggregation in a Caenorhabditis elegans model of Parkinson’s disease"
There's a paper which lists the susceptibilities of Desulfovibrio to various antibiotics. Search for "Susceptibilities of 23 Desulfovibrio Isolates from Humans"
There's a paper which describes polyphenolic acids that cross the blood-brain-barrier and inhibit aggregation and ameliorate neurotoxicity. Search for "Anti-aggregation Effects of Phenolic Compounds on α-synuclein"
(I created an account just to respond to this post, and the system prevents new accounts from posting links.)
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1 Reaction@mortalbird, thank you for creating an account to help others and to post evidence-based information.
You will be able to add URLs to your posts in a few days. There is a brief period where new members can't post links. We do this to deter spammers and keep the community safe. Clearly the links you wanted to post are not spam. Please allow me to post them for you.
- Desulfovibrio bacteria enhance alpha-synuclein aggregation in a Caenorhabditis elegans model of Parkinson’s disease https://www.frontiersin.org/articles/10.3389/fcimb.2023.1181315/full
- Susceptibilities of 23 Desulfovibrio Isolates from Humans https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2786338/
- Anti-aggregation Effects of Phenolic Compounds on α-synuclein https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7288075/
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2 ReactionsI am sad for this person. I try to focus on anti-inflammatory foods to help my brother who has MSA and is in a care center. A book that I read is entitled, “Hidden Fire: A Story of Inflammation, Diet and Disease” by Shilpa Ravella.
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1 ReactionI am so sorry you are going through this. I know you are suffering and wish there were better answers. I was diagnosed with "SFN likely underpinning autonomic dysfunction, and diffuse muscle twitching and weakness" at Temple BSW. I have no more answers than that. I experienced the same response from UT Southwestern when I was referred to their neuromuscular clinic. I started to have difficulty swallowing in September and had a swallow study on the 30th. It sounds like your PCM is very helpful. Do you mind sharing? I just fired my 3rd one for the year when she said all my symptoms were "somatic, BH health in nature, with strong psychological overlay" despite the results from my neurologist. I am looking at trying to go to Stanford or Mayo, but I need a referral and a new PCM.
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1 ReactionHello @gpo and welcome to the Parkinson's (PD) support group on Mayo Connect. I'm sure you must be frustrated at the inability of your medical team to come up with some answers to help with the symptoms you are experiencing.
You mention, difficulty swallowing." What type of difficulty are you experiencing? Do you choke when you swallow or does food get stuck? Often, speech therapists can offer suggestions and exercises to help with swallowing problems. Speech therapists are really unsung heroes for individuals with neurological issues. Have you been referred for speech therapy?
Have any meds or physical therapy been offered to you for the other movement disorder symptoms?
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