Have you tested positive for synucleinopathy?

Posted by sescorp0834 @sescorp0834, Oct 21, 2022

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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@gpo

I 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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I'm really sorry to hear all this is happening to you. I obviously know how much it can suck. I would recommend that Dr Elizabeth Peckham at Central Texas Neurology. They are in Round Rock and they went through every single document, after visit summary, MRI's, CT Scans, bone scans, and every other thing we could fund in me. I have over 140 confirmed and proven diagnosis. Since going to Dr Peckham, I know I really do NOT have all of those diagnosis. It's the PAF, causing pieces of my body to turn off. As the Alpha Synuclein Proteins build up in the nerve fibers or in my brain, new issues arise. Such as my digestive tract is completely paralyzed with the exception of the in door and the out door. So now I live with a feeding tube. If I just eat, due to my epiglottitis being paralyzed, whenever I eat or drink a portion goes directly into my right lung. When I had bladder cancer, the treatment was BCG Therapy. That's injecting bovine tuberculosis into the tumors every week for several months. I was the lucky 1 in 7 million that it jumped the species barrier and I got human tuberculosis. Which destroyed my right lung so bad that they had to remove a large portion of it. Now it's there only as a catch bucket in the event I asperate. Other than that, my right lung does not function. So I've been through years of chasing the cause of all the torture I live with and at least Dr Peckham gave me some understanding. So before the expense of all that travel, I'd try Dr Peckham first. Remember it was the Mayo Clinic that narrowed the search for a diagnosis, Stanford was an outright waste of money, northern Texas facilities were worthless. They have me a diagnosis of fibromyalgia, the go to I HAVE NO IDEA DIAGNOSIS for all doctors facing a challenge. I LOVE finding the doctors that love the challenge of figuring me out. Most do not want the challenge. But Central Texas Neurology wants the challenge! I wish you well and if you ever want to chat, just hit me up.

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Thank you for your overwhelmingly frustrating story. I feel bad for you. It makes my story of 8 neurologists all with idiopathic diagnoses seem minimal with not currently having digestive issues. I do hope you can find the real answer to what is wrong with you so you can begin finding ways to help deal with all your problems. I know the worst part of health issues is not knowing what are causing them. Good luck
Lou Morrissette

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