Risk of Prion disease RS1799990(G;G)

Hello.Part of the reason I did a DNA test is because of unusual set of symptoms I have been experiencing in the last 9 months starting with sleeping issues. As my symptoms progressed, rare diseases like Prion, sadly, has been on my radar. Some of my symptoms are:

severe insomnia
muscle spasms/tremors around body
feeling of moving back an forth
mood swings
sudden paranoia
visual disturbances
hearing sounds
radiating numbness down face to extremities
short term memory
concentration issues

I’ve read a lot about Fatal Familia Insomnia and Sporadic Fatal Insomnia. if I am not mistaken usually develops in your 40’s or older. I am 27 and both my parents or even my extended family has not developed anything and to my knowledge nor died in a related way. However due to my strange progression of symptoms I wouldn’t be surprised if I had this…

Is the percentages from the total number of people sampling or estimated in global population?

How do I know if there was a mutation and if not why hasn’t it shown in other family members yet?

Should I show my findings to my doctor or seek a geneticist?

Wish me luck…

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Your symptoms could be due to something as simple as a glutamate overload due to a GAD1 gene mutation. This causes you to not be able to convert enough glutamate into GABA.

I doubt your regular doctor would know where to begin with anything genetic.

Glutamate overload is relatively common but debilitating. IV ketamine is a good start to clear a glutamate storm, and supplements like zinc, glycine, NAC and magnesium help reduce the glutamate. It is not a good idea to take GABA supplements though, because they ultimately just cause you to have an even bigger glutamate overload.

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30% of the population has that snp so I don’t think that’s the cause of your issues

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Hi Anthony, Did you ever get a blood test called Arginine Vasopressin? Doctors don’t tell us about it, a friend told me 2 years ago, i forgot the name due to confusion, panic and the other symptoms you mentioned… Just got results, i am producing nearly none of the hormone ADH; it affects circadian rhythm , water balance, hydrate day and night, urinate it right out, i see a cash DO on friday who wrote the lab request, she will put me on a med. The friend that told me has studied all this stuff, she also had it, a form of Diabetes Insipidus (not the same as regular Diabetes), which makes sugar go low and sometimes rise, just started eating half a banneana daily, for potassium and it seems to help tho the labs say ‘normal’, ADH causes a depletion of salt, i use a ton of Himalayan daily, and shows that i’m sodium very low and chloride, too. Look it up, maybe this would be a simpler way to go i’ll be praying for you, for all of us, Hard stuff, but there is One that loves us and made our bodies to heal…
Have a good day, Barbara

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Ergo my comment on the problem being somewhat common. . . I treat people for glutamate overload every single day with very good results.

Sounds like symptoms of Celiac Disease, have you looked to see if you have gluten intolerance genes? We have it and have many of these symptoms before going gluten free…just a thought.

First, i’d need to know what supplements you’re on. Too much B6, esp. if it’s the wrong type for you can do many of those things. Magnesium deficiency can do others. Vit. C will cure your hypochondria (I say that kindly, as I’ve been there.). You need a one-on-one with a nutritional consultant or environmental medicine doctors.

Second, skip your supplements a couple of days. See what comes back. See what goes away. Keep notes.

Third, keept a food/symptom diary. You are the only one who can solve this mystery. I’m 99.99999% sure you don’t have a prion infection.

When taking vitamins, keep in mind, that all the Bs ride the same train. Too much of one can cause a relative deficiency of another.

Electromagnetic Hypersensitivity has the same symptoms. The massive increase in electromagnetic pollution due to wireless radiation from WiFi, cell phones, “smart utility meters” and countless other gadgets is causing numerous health effects. Your exposure to electromagnetic pollution can be reduced through changes you make in your use of these gadgets. See However if you have become electrosensitive you may have to take actions to protect yourself from your work environment, neighbors WiFi, cell towers, smart meters. EHS is estimated to effect 3.5-8 percent of the population so it exceeds epidemic proportions. has many useful resources and information for reducing exposures. Some genes have been found in common with EHS patients. Those genes affect/impair how our bodies eliminate oxidative stress. Electromagnetic pollution increases oxidative stress by activating the voltage gated calcium channels causing many downstream effects. There are over 23,000 independent studies showing biological harm from electro pollution.

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According to … snpedia i guess (it’s in my promethease report) - The G;G type which you have reported is 1.7 times reduced risk… Not increased risk. But thanks for drawing my attention to this, I have a lot of those symptoms - except in my case they call it a ‘mental illness’, and I have (A;A) for that one… And (A;A) says “Increased chance for prion disease” on snpedia. Thanks for at least raising my awareness of this.

Ever since I removed gluten products from my diet, I’ve been sleeping beautifully, and I no longer have loose bowels or nausea.

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Were you taking B6, more than 100mg a day, by chance?

Many of your symptoms are like those of B6 OD (But they go away within 2 days of stopping the B6.)

Another thing to think of when you see neuropathy, is thiamin (B1) deficiency. You can create a relative deficiency of one by taking too much of another. They all ‘ride the same train’ around the body.

No, I wasn’t, but I’m awaiting results of biopsies taken during a recent endoscopy that will show any villi destruction, hopefully, there is none.

i had that tested, and tried the med i forget what it was, but my system is so out of whack, it didn’t help. Best of luck with yours…
Now, after a year and a half bedridden, constipated, nausea, vomiting and dry heaves, they FINALLY told me the Endoscopy was Auto-Immune, Metaplastic Atrophic Gastritis; Now a GI clinic is sending me for a gastric emptying study next week, 2-4 hours;

loud noises trigger the spasms in the center of my chest and panic and nausea, we live across the street from a little airport with a bunch of flight schools and a major highway, Had Vestibular Testing due to falling several times, we have to move, but i can’t get rid of stuff until i can get strong enough to pack and move to a quiet place. Not sure if i’m emf sensitive, had the smart meter removed but that’s not enough, my laptop hardwired,
gosh, if i could take the snow, i’d be living in Green Bank, WV, no wifi, no 5 G.