Risk of Prion disease RS1799990(G;G)

General
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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

Iā€™ve read a lot about Fatal Familia Insomnia and Sporadic Fatal Insomnia. if I am not mistaken usually develops in your 40ā€™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 wouldnā€™t be surprised if I had thisā€¦

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 hasnā€™t it shown in other family members yet?

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

Wish me luckā€¦

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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 donā€™t think thatā€™s the cause of your issues

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Hi Anthony, Did you ever get a blood test called Arginine Vasopressin? Doctors donā€™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 mentionedā€¦ 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 ā€˜normalā€™, ADH causes a depletion of salt, i use a ton of Himalayan daily, and shows that iā€™m sodium very low and chloride, too. Look it up, maybe this would be a simpler way to go iā€™ll be praying for you, for all of us, Hard stuff, but there is One that loves us and made our bodies to healā€¦
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.

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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 freeā€¦just a thought.

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First, iā€™d need to know what supplements youā€™re on. Too much B6, esp. if itā€™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 Iā€™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. Iā€™m 99.99999% sure you donā€™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.

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Electromagnetic Hypersensitivity has the same symptoms. The massive increase in electromagnetic pollution due to wireless radiation from WiFi, cell phones, ā€œsmart utility metersā€ 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 ehtrust.org. 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. electricsense.com 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 ā€¦ snpedia i guess (itā€™s in my promethease report) - The G;G type which you have reported is 1.7 times reduced riskā€¦ 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 ā€˜mental illnessā€™, and I have (A;A) for that oneā€¦ And (A;A) says ā€œIncreased chance for prion diseaseā€ on snpedia. Thanks for at least raising my awareness of this.

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Ever since I removed gluten products from my diet, Iā€™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?

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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 ā€˜ride the same trainā€™ around the body.

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No, I wasnā€™t, but Iā€™m awaiting results of biopsies taken during a recent endoscopy that will show any villi destruction, hopefully, there is none.

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i had that tested, and tried the med i forget what it was, but my system is so out of whack, it didnā€™t help. Best of luck with yoursā€¦
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 canā€™t get rid of stuff until i can get strong enough to pack and move to a quiet place. Not sure if iā€™m emf sensitive, had the smart meter removed but thatā€™s not enough, my laptop hardwired,
gosh, if i could take the snow, iā€™d be living in Green Bank, WV, no wifi, no 5 G.

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I smiled. My husband goes to Green Bank for astrobiology conferences. Iā€™ve been there once. I need my internet!

Hope you are taking magnesium before bed every night.

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DrMom, That is so cool!!! so you need the internet, i guess we all do, but not 5G, we got them to cut us down to 2G in our router, but who knows! I take magnesium in the daytime, Have any suggestions for different types, as iā€™ve tried them all, but need to add the nighttime dose; hard to swallow so many pills. Just water can cause nauseaā€¦ Thanks again, BA

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Careful mentioning things to doctors. Because patients have access to a plethora of data and are ā€œunqualifiedā€, they will quickly file you into ā€œhyperchondriacā€, ā€œpsychosomaticā€, and ā€œneeds therapy.ā€ Sad, but true.

We have real, unmeasurable symptoms (or signs?) and because our CBC comes back normal, we get a clean bill of health.

When I spent some time looking at gene variants and saw the list of possible diseases, there were so many! And they all crossed different genes. Prions and all disease manifestations are usually a result of many different factors coming together at one time, and doctors donā€™t know the why yet. They just see, say, Prions, and have a lot of Alzheimer patients with them (for example, I donā€™t know) - and then the relationship is documented as APOE (Alzh) caused. Which could be wrong, but the association was made, and a precedence set.

Excess Glutamate is very uncomfortable! Tired and Wired. Buzzing skin and muscles is how I think I feel it.

Your issues are REAL.
AND - it takes a long time for the rare diseases that ā€œfit the symptomsā€ to show up. Imaging can rule it out - if you stick to the symptoms when talking to doctors! They will go through a process of ruling out this and that. Save all your lab results.

They will either refer you, or tell you youā€™re depressed. They will never say ā€œI donā€™t know - but letā€™s keep digging!ā€ Oh those would be magic words!

You have time. I know what itā€™s like to ā€œlose my mindā€ and watch it happening, and having ZERO support. Itā€™s scary! In that sense, it can enhance your symptoms depending. Getting no support for something very real in your experience, I believe, exasperates the problem. It is the ā€œworry and stressā€ you may be labeled with, which didnā€™t exist until ā€œprofessionals and expertsā€ dismiss your experience.

If you can, try for a Functional or Integration doctor. They know something like h.pylori can lead to gut issues that cause neurotransmitter problems.

Try to remain calm, doctors do NOT understand jokes! Not on the job at least. (I read this in my disability appeal documentation). Also, doctors donā€™t remember everything and elaborate. So donā€™t bring up personal information about your life, job, family, etc. Just stick to the symptoms and ask what they think might be causing them? Defer to their ā€œwisdomā€ even if you know differently. Sometimes they have to come to the conclusion themselves, but if told, will shut down completely to the idea.

And donā€™t mention any diseases!!! Symptoms only! Dry facts. Try not to emote either (how pathetic is that!) Do your research, but donā€™t share it. Medicine is actually super complicated and doctors do know a lot - they just get stuck in ruts.

Learn from my mistakes! (although I was right! It WAS mold in my case!)

I empathize with your symptoms and situation. You see a marked change. Doctors watch trends and when a change occurs, that indicates something is awry. But they seem to forget that with these ā€˜nebulousā€™ symptoms, especially when they donā€™t have a long term relationship with you (and if youā€™ve been healthy, why would they!)

I echo that doctors donā€™t know anything about genetics. They are general practitioners. Geneticists can tell you all your scary potential diseases that may never express. Many labs are catering to gene testing, and SNP groupings, not just one gene, are finally being recognized as more important than one gene. The labs give pretty print-outs and offer interpretation support for the doctors - so things are coming a long way.

My hope go out to you and finding the right doc! :crystal_ball: :jigsaw:

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Thanks so much for the encouragement; Tapering down benzos in the midst over a yar and a half to get from 4mg to 2 mg, but getting there, the full Medicare Insurance is taking a huge bite of my check, iā€™ll have to get an Advantage plan this coming year, and try to save $$$ for Integrative/Functional. Thanks for prayers that our house will sell in the right timing, to get us away from flight schools and traffic, that we will be led where we move, more rural, hopefully.