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dr suggested but not diagnosed


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Hello. First of all I have chronic health issues in general. I've been to so many drs I'm having severe anxiety because of it. Like full on angry temper tantrums at these appointments as soon as I'm being dismissed.

So I'm not going to list everything because it could fill a book. Long story short, I've got symptoms of endocrine imbalance, benign tumors in breast, uterous, ovary. I also have circadian rhythm disorder causing severe insomnia, GI probs, skin rashes, oral lichen planus, possibly something autoimmune, and anger/anxiety behavior tantrums. Much more but the jist is that the drs all largely act as if there is no connecting dots and all my complaints are "subjective" so I keep being shuffled from specialist to specialist.

My eye symptoms are painful photophobia, glare, halos, transient blurriness but near perfect vision (minus exophoria, retinal hole, retinal freckle, dry eyes), and on occasion I've felt seizurish watching lightning, fireworks, and falling snow. I also see visual snow, although that and the crushing squeezing migraine physical pain has improved after taking fludro cortisone, which I need because otherwise I'm chronically dehydrated despite lots of water because I pee and sweat out too much salt.

So I saw a neuro opthalmologist to recheck my eyes last week. First thing he said was its my brain, not my eyes. He mentioned this phenomenon of persistent perception disorder which he suggested could be caused by a chronic migraine disorder. Soooo now its back to a neurologist who will say go see a shrink who will say yes I've got problems but they're caused by underlying medical condition who'll send me back to Dr. Or at least this has been the pattern going on 9 years.

The visual stuff started when allll my symptoms came to a head and I started fainting duristressess. Oh and i was a highly functioning audio editor working on movies and tv videos all day. I've always seen a small halo around the moon but out of nowhere all lights became unbearable, snow appeared, and I was generally distracted by the pain and inability to ignore symptoms. They suggested but did not diagnose optical migraines and neurologist back then felt no need to investigate what I thought were seizures.

Anyhow, all this, everything, is causing me severe stress. I swear there is a genetic hereditary prob but I can't convince anyone to test. My sister had epilepsy and adrenal tumor, mom has signs of early dementia, aunt has spinal lesion near brainstem and Parkinson's, their mom died of stomach cancer, their uncle died of bleeding brain tumors from neurofibromatosis.

Yes I've tried hallucinogens about 20 years ago and yes I've used medical marijuana for pain and sleep and anxiety when I lived in a legal state. I do think something more is going on then pot and the few times I "partied" in high school. The two drugs which have actually improved or eliminated visual snow are fludrocortisone, a substitute for aldosterone needing by adrenal for electrolyte balance, and lamictal, an anticonvulsant. So yeah. Hi there. ( :

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Well, where to start ...

 

Whether it is HPPD or something else, clearly there are autonomic nervous system problems as well as visual.  That often is the case with HPPD and other CNS issues such as Parkinson's disease.

 

As for "optical migraines", they are ONLY intermittent.  If your symptoms are continuous, then is really isn't that.  But doctors grasp for what is common.  Optical migraines and HPPD do have things in common.  HPPD is a constant state of pre-seizure that doesn't actually become a seizure in most cases.  Migraine and optical migraines are related to epilepsy.

 

At this point I must ask, besides Florinef, are you on any meds right now?  Please list the meds you have tried and how they affected you.  As a side point, sometimes antibiotics can bring on this stuff so perhaps your pneumonia treatment was part of the current problem.

 

As for genetic testing, you can get a lot tested through 23andMe for $100.  Over 600,000 SNPs.  However, at this time, you are left to ferret out the results.  You can get started with http://www.snpedia.com/index.php/Promethease.  If you or a friend enjoys doing (or at least can do) this type of research, it is very useful.  I am also accepting raw data downloads to study the relationship with HPPD (and such profound visual crap).  http://hppdonline.com/index.php?/topic/3825-genetic-testing-a-chance-for-us-to-mobilise-research/

 

 

Otherwise, welcome to the site.  It is fairly quiet right now but there is a wealth of info you can search.

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I want to do the DNA test but will it actually help with drs (do they take the 23&me results as hokus pokus) if a mutation pops up? I already know I'm heterozygous for ct677 mthfr and a family history full of neuroendocrine and neurodegenerative diseases but I'm accused of connecting too many "arbitrary" dots. I disagree. I don't and never have claimed that I know for sure what's wrong. All my inquiries are from actually researching, already ruling out what doesnt fit. I am an analytical, logical minded person who reads research articles for fun. My brain likes and needs the tickle lol so when I'm reading research articles published by NIH that contradicts a Dr who is rigid and outdated on a rare illness, I can't understand how they ARENT connecting the same dots I am.

Medicines...

I had reduced but still bothersome visual snow when I took lamictal, 300 mg. Dr put me on that because i felt seizurish and i was (still am) having frequent panick attacks from anxiety. It didn't improve the anxiety so He also had me on xanex which helped but eventually I developed low blood pressure and couldn't even tolerate the 2.5 mg dose. I weaned off to be tested for cyclical Cushing's and learned of the adrenal issues so was put on Fludro cortisone, which has almost eliminated visual snow. No meds were ever prescribed for visual symptoms but those two, lamictal but most importantly florinef, have helped with that one particular symptom.

Do you mean what medicines I've taken in general?

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I have started taking my old xanex script again in lue of med mj, I have high salt diet so fludro works right. Supplements of l glutamine powder, liquid iron, vit d, and b vitamins if I can tolerate (internal bleeding, low heart rate, and GI upset so I can't take daily), liquid Tylenol, aleve gel caps as tolerated (works best for pain but aggrevates peptic ulcers so I only take it when I'm desperate), and restarted oral steroid paste for oral lichen planus.

I do want to say that the visual symptoms im complaining of have not been noticably better or worse from pot use and mine was not triggered from a specific episode of using it. Like compared to many people here with the stories of pot being the tipping point, or trigger. I really believe mine triggered after a climax of infections combined with work environment. Working in dim light staring at large high def high res large video monitors 45-80 hrs a week with long commutes during graveyard shift. Thats when these symptoms appeared. Sober, at work, straining my eyes, fighting off multiple infections. Pot very well might end up being behind it but I'm just not sold on that yet.

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To clarify, valentines 2011 I was hospitalized for 4 days with strep pneumonia, antibiotics resistant e coli, hypoxia and dehydration. I also had h pylori eating holes in my stomach. The treatment for the infections were giving me lots of cognitive, bp, and digestive probs and it resulted in 5 months of being bedridden and losing 40 lbs. I'm better now comparatively but still struggling to function. Honestly the visual symptoms aren't even the hard symptoms to deal with anymore. There, but overshadowed by other more unbearable symptoms

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Most with HPPD complain more about anxiety than actual visuals.

 

The stress you mention certainly could contribute to your problems.  Hypoxia isn't good for the brain.  Be careful with Tylenol as well.

 

As for doctors taking 23andMe seriously, the purpose is first to give you more to work with.  If some genes of interest stand out, then you need a doctor who will consider it, possibly verify it if need be.  For the most part, people with HPPD and other weird stuff are on their own.  It takes time to find a useful doctor and then time to build a working relationship with them.

 

 

As for meds, the most helpful for HPPDers has been Klonopin.  Some report Keppra helpful.  Dr Abraham did a drug test boosting dopamine in the executive center with many reporting improvement with symptoms.  Generally weed aggrivates symptoms.  Drink as well.

 

You may notice if reading my posts that I encourage trying Sinemet (levodopa/carbidopa).  Some have reported improvement with it.  Based on researching the areas with my symptoms (and later confirmed with genetic testing), dopamine issues have been core of my problems.

 

As you know, each person will respond different with meds.  So you just have to try.  As a simple guideline, start with small dosing and be patient.  You seem to have autonomic nervous system issues (possibly dopamine related).  Have you been tested as a carrier for CAH?  Yes, most docs dismiss "carriers" as being symtomatic but that is their issue and not the facts.

 

So xanex lowers blood pressure?  Dopamine meds tend to as well.  However, they can restore regulation which would then do the opposite.  I've had lowish blood pressure my whole life (ranging between 80/60 to 110/80).  Yet every med that is helpful for me lowers blood pressure and have less problems with them then without.  So, its all weird stuff.

 

So the med question is to build a history of how meds affect you.  You end up doing detective work with it, building and understanding (diagnosis) based on med response.  Obviously this take time and a cooperative docs.

 

When evaluating response, you'll want to see which ones affect visual symptoms (such as florinef).  And, obviously, your low heart rates and blood pressure.

 

Are your visuals constant (24/7) or intermittent?

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I've been tested for both Cushing's disease and Addison's, because I have symptoms of both and labs that are either normal or not abnormal enough to be diagnostic. I also began taking the fludro because of high renin with low normal aldosterone. I also salt waste. I have not been genetically tested for cah or Addisons but I do not have adrenal antibodies. I have tests to do to check for carcinoid syndrome and pheochromocytoma. Part of that will test urine dopamine but because I'm a cigarette smoker it will skew the result. I also have the one c6t77 mthfr mutation which the high dose l methylfolate I was given I believe caused the mouth ulcer to appear that has been biopsied and said to be an autoimmune reaction of oral lichen planus. I'll be rechecked for autoimmune stuff again soon. Sjogrens, lupus, and Bechet's have been suggested but not confirmed, so I was labeled as fibromyalgia instead.

The neuro opthalmologist summary said diagnosed with photophobia, exophoria, migraine, and other visual distortion with dystonic phenomenon and his recommendation was entirely focused on migraines and chronic headaches.

Also my most recent brain MRI from october that was normal will now be amended to include I have a right sided VR space in basal ganglia and asymmetrical lateral ventricles. Oh and my iris color is washing out and I've got dots appearing on iris. Lische nodules are a sign of neurofibromatosis but they won't give a name to the iris color change or dots because I'm 34 and they think NF would be evident at my age, even though I know there are more then one type and its not always outwardly evident if you have one of the types that manifests as internal nerve tumors.

I've taken a lot of meds and most react badly. I think with fludro to help with my electrolyte balance, xanex might help better. As for mj, I'm a half a hit and quit person. It calms my trembling, anxiety, headaches, muscle twitches, and helps me sleep. It also helps me eat since I'm chronically nauseous and will end up with low blood sugar. I have reactive hypoglycemia as well, so high carb foods a big no no.

I smoke and drink coffee. The amount of both really varies based on symptoms. I quit smoking for 7 years and that's when all the additional non eye symptoms started. If I try the gum or patch it starts eating holes in my skin. If I don't have coffee I literally don't get out of bed.

I've been prescribed birth control of various types at least 6 different times since 92 all with bad side effects such as migraines lasting weeks, rapid mood swings, chronic anemia, losing weight/underweight, and insomnia.

I've also taken lexapro, sam e, st johns wort, amytriptalyne, nortriptaline, 5htp, lamotragine and wellbitrin. Xanex and lamotragine worked best. The rest worsened my symptoms or gave me worse new symptoms. I also always have bad reaction to antibiotics and narcotic pain meds so Tylenol and pot are the only two I can take and tolerate but only lesson pain.

My anxiety really feel induced by shitty medical drs. I'm not anxious all the time or at every appointment. I'm anxious I think from the trauma of being sick so long with little improvement.

The psychiatrist I saw, who still has been the most helpful Dr I've ever had, stopped seeing me because meds weren't helping and he determined that while I had bipolar 2 symptoms, they were from an underlying medical condition. (He was first to test adrenals and mthfr and hormones). Which he wrote in my disability application. Which was validating to one degree, but sucky in another because I am now thrush back into full time Dr appointments and red tape of medical records, etc. :/ like on top of being physically ill, these drs are stressen me out. I'd almost rather be sick in peace then be sick and continue to be put through the medical ringer. Especially when ever abnormal is dismissed as "MY normal" and every borderline abnormal is not diagnostic. Thyroid, adrenal, pituitary, kidney, ovaries, pancreas, skin, digestion, cognition, behavior and eyes. All with issues and labs that are ambiguously abnormal or equivocally normal results. That's the source of my stress I believe.

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And I'm very much deconditioned due to symptoms are aggravated when I'm not laying down. I spend 18-20 hrs laying flat.

As an example, I carried 6 light boxes down flight of stairs in 6 trips. By the 3rd trip, I was very shaky. By the 6th I almost fell from whole body trembling. I was too sore to walk for 3 days and remained so sore I was walking funny for another 3 days. Extremely deconditioned

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The anxiety brought on by somewhat-useless doctors is understandable.  Your suffering is significant and should cause them to work harder rather than shrug shoulders, especially since you already have a mental health doctor saying you have real physical issues that need to be addressed.

 

They need to find out why your aldosterone is low.  Either there is a direct problem with its production, or a problem (shortage-of-materials) upstream.  The pathways are known, as show in chart below.  So it is a matter of them testing all upstream metabolites.  This is limited by the availability of tests and the doctors willingness to get off there rear ends and order such tests,.

 

541px-Steroidogenesis.svg.png

 

Since you have to spend most of your life horizontal, that is the first thing to address.

 

When you have an IV in and are receiving fluids (hospital/emergency room), does this relieve any of your symptoms?

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Yes the one time I had an iv, when I had the pneumonia and e coli and hypoxia and dehydration in 2011, the iv helped specifically with comprehension and alertness and it raised my blood pressure.

It has only been since 2011 that I've been inactive.

I think there are two things going on. A problem with my cholesterol converting to the other hormones, and possibly a blood vessel issue in my brain. I've had high ldl cholesterol since 90s but I have had fluctuating deficiencies & hyper functioning of the hormones down the chain.

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Interesting with the IV.  There is a lady in this area that has POTS so bad that she has an IV 24/7.  She lives with it ... and not just in bed.  To work, shopping, etc.  While that sounds strange (and is), she has a life.  Don't know how she was diagnoses and prescribed this treatment but it works.  Have been told the IV is just Ringer's solution.

 

Did Wellbutrin aggrivate your blood pressure or heart rate?  Did it change any of your visual symptoms?

 

Sine your blood tests fluctuate a lot, it does make one wonder if there is a central-control area that is struggling/sputtering with a wake/wave of effect down the chain.  Dopamine is a neurotransmitter involved in balancing control in systems including the autonomic nervous system and some hormones, particularly prolactin and testosterone.  Of course it could be something different and you have to weigh my comments about dopamine in the context that it is a wonder-transmitter for me ... but maybe not for someone else.

 

Low aldosterone is often Addisons.  Curiously, the adrenal glands produce dopamine, norepinepherin, and epinepherin.  Perhaps there is a link there.

 

With low salt, potasium will go high and cause arythmias.  And in general a person might have things you describe.  It doesn't mean your blood vessels are clogged from the high choleteral.  And they have tests to check your blood vessels - everything from MRA to a visit to your eye doctor.

 

Hope these thoughts are helpful

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