Undiagnosed Symptoms Community
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14471348 tn?1434687592

Unsure what's causing my symptoms

My neurologist told me I have some damage to my peripheral nerves. All the main culprits have been ruled out: lyme, lupus, rheumatoid arthritis, thyroid condition, vitamin deficiencies, etc. MRI of my brain was normal. So he ordered a genetic test for Charcot Marie Tooth disease, and both my dad and I have done some research on this and it doesn't seem to explain all my symptoms. (Side note: while in NY no doctor took me seriously, so even though I'm extremely anxious about not having a diagnosis yet, I am relieved that someone finally believes me when I say something's wrong).

I think I might have Young Onset Parkinson's or something similar to it. I'm 26 and will be 27 this July. I have been keeping a symptom journal since June, and described the symptoms that I noticed over the past two years (I didn't think they were all related at the time, but decided to write them down anyway. I'm glad I did.)

He said I do have problems with balance, dizziness, coordination and the results of some of the tests he did (I don't remember the names of some) would explain my dizziness, lack of coordination, etc. I think he also said I had trouble following lights with my eyes without moving my head, or that my eye movement wasn't ideal. That could be related to my strabismus.

My legs fall asleep easily, get stiff, I often get disoriented, my arms and wrists also fall asleep but it's not as bad as in my legs. I am losing my sense of smell, have nausea constantly (but rarely throw up), a very low appetite, constipation, diarrhea, extreme fatigue and sleep disturbances. I think my REM sleep is being affected. I have been having a lot of vivid dreams. While some of my medications cause vivid dreams, these are different. I've had nightmares, and have sometimes felt as if I was dreaming but I was awake while dreaming. I don't know how else to explain it. I also have cognitive issues. I sometimes forget conversations shortly after having them, or need a lot more clarification than I used to.

I also have depression and anxiety, some of which is obviously related to waiting for the diagnosis, but not all of it is. I'm also bipolar. This January will be the 10th 'anniversary' of my first bipolar episode. Having had bipolar disorder for ten years, I know what bipolar depression feels like (at least in how I experience it) and this isn't it.

My hand hurts a bit when writing and gets cramped, and sometimes trembles if I am writing for a long time. This bothers me because I'm a creative writer, and I will be distraught if it becomes close to impossible to jot down ideas when they randomly appear in my head (as they often do). I'm not sure if my handwriting has gotten smaller, but it's gotten less legible (but it's never been great).

I have a gut feeling that the Charcot Marie Tooth disease test will be negative, or that if it is positive, I have both that and something similar to Parkinson's.

Either way, I am going to ask for a SPECT or PET scan since those are more sensitive than an MRI and can depict dopamine damage much sooner.

What other tests or questions should I ask my doctor
13 Responses
1530171 tn?1448129593
Hey dramaturgchick.

You certainly do show that you are talented  in writing, or I should rather say in written expression.

Well, I find that besides your  writing skills, you also possess the ability to
stay clear, focused ( at least in this post) and not be dragged in negative territory because of your  conditions, playing up all the associated suffering.
Not that I have any intention to diminish the amount of difficulty you must have been experiencing in your life so far, but it is indeed remarkable that
are able to focus on finding answers, versus focusing on the "poor me"!

If I were you, I would explore brain insulin-resistance, inflammation,
neurotransmitter dysregulation (I know that most effective NT tests are the domain of Big Pharma R&D for new anti-depressants & anti-psychotics)
One the other hand, if testing proves to be problematic, I would be tempted to do my own trial of very low carb intake(1) and ketone therapy(2).

(1) Brain chemistry disruption can be halted to a degree by a very low carb diet (vlcd)
Brain insulin-resistance is lowered when on a vlcd and GSK3- an enzyme responsible for glutamate synthesis- is also lowered as GSK3 itself is regulated by insulin!
Elevated glutamate triggers hyper-excitement and mania.
Eventually, the hyper-excitement and mania cannot be sustained, glutamate levels plummet and depression sets in.
Other NT like lower serotonin and higher dopamine can cause depression and anxiety, respectively.
So again a vlcd can help keep those NTs in better balance.

(2) Ketones are produced when the body burns fat for energy.
The best source by far is Coconut Oil, because it does not get stored
as fat, but rather used for energy after it gets processed by the liver (fast).
Coconut Oil is more like carbs, but without the insulin response.
It is always a good idea to start with 1 Tbsp and increase gradually to up to 4T, which is a typical therapeutic daily dose.
It is one of the few substances which can cross the blood-brain barrier AND supply fuel to the brain!
A ketone therapy  offers a potentially effective treatment for neuro-degenerative diseases and  insulin-resistance related issues.

As a side note, there are a lot of bipolar sufferers (I have a relative and a friend who are both bipolar) who consume sugary foods and sweets, excessive amounts of carbs, sodas, alcohol and many of them also
This can easily lead to (or increase) insulin resistance.

I hope this helps, however, please note that my suggestions and comments are not intended as a replacement for medical advice.

Let us know how things develop, your genetic testing results and feel free to post again anytime should you have any questions or concerns.

Best wishes!

363281 tn?1590104173
Have you been tested for Fibromyalgia? So many of the issues you are experiencing can be caused by it. So many doctors don't want to recognize it, but, it is real. I would certainly ask your doctor for some tests to rule this out.
14471348 tn?1434687592
Yes, that has been ruled out. I also don't have diabetes. My doctor advised me to have soda (as bad as it may be for me) instead of taking ibuprofen or excedrin for my migraines. I only take excedrin when I need to.

I'm going to try coffee again (the acid is easier on my stomach when iced and mixed with milk. Maybe adding coconut oil will help a little. We'll see). I've tried coconut oil before, as suggested, and ihave found that the taste takes a while to get used to. For now, I think it's best to forgo the coconut oil, since I am nauseous all the time.

I've found that I often have to be my own advocate because a lot of doctors ignore my symptoms due to medication side effects and my depression and anxiety is always related to the BP. So I've started to  
14471348 tn?1434687592
always ask for other tests.

I think more genetic test are ideal/necessary since my dad's father was adopted, and my mom has family from the Unkraine (99% of whom died during the Russian Revolution three generations ago, so there's no way of knowing what ran on either side of the family and something could have been recessive until now and everything has to start somewhere).
14471348 tn?1434687592
First, thanks for the compliments on my writing.

I do eat carbs (but mostly to keep my weight up and I supplement it with green smoothies with either whey, hemp or brown rice protein). My mom is a great cook, so I try to eat healthy and eat whatever she has in the fridge that isn't too fatty or rich (I lack an enzyme to properly digest some fat. Not sure which enzyme). We just had a holiday party, so there's a lot of ham, sweet potatoes, vegetable salads/fruit salads/potato salads, etc. As far as low carbs go, I find carbs are good for me, at least, but I also eat a lot of vegetables. For instance, the dining hall staff at my alma mater and joked with me that I was the "vegetable queen" because I would get really excited when they made balsamic glazed brussels sprouts and mixed vegetables. I don't think my insulin levels are abnormal because I've had multiple blood work done. I didn't list every test in the first post, since it probably would've been too long.

I almost never miss my meds. I've only missed a few times on accident (in 10 years). I only miss on purpose when I'm so sick that I know I'll throw them up (this happened when I had epilepsy, and medications are expensive, so I don't want to waste them). Luckily, I don't really have to worry too much about being that sick. I've only thrown up over the past week, and have never lost my meds in the process (sorry if this is TMI).

Also, my Aunt self-medicates and often takes too much medication/doubles her dose when she shouldn't. I've never done that.

I only self-medicate through art therapy, hypnosis/positive thinking videos, baking, listening to music, blogging, giving people compliments. I try to give one compliment a day to someone, especially if they seem to be having a bad day.) Things that make me happy. I also intern at my local TV station since I want to go into documentary filmmaking, and am working on my novel and several short stories and developing other stories. It brings some respite from all of the uncertainty.
1530171 tn?1448129593
Hey dramatugchick.
I  sent you a reply earlier, but since I don't see it on this thread now, it somehow did not get submitted.
It doesn't matter anyway.
A few points to note:
You have no idea if carbs are good or bad for you, as there's no immediate negative reaction, so it would be
almost next to impossible to connect carbs to neurological issues, from day to day..
These issues develop over longer periods of time, so the lack of digestive and G/I evident problems offers no assurance of medium to long term safety, when consuming carbs.
One big risk factor, relevant to you, is Brain Insulin Resistance.
Lithium,  often prescribed for bipolar, is a salt and very alkaline, which balances the effects of the Insulin Resistance in the brain!
The best and safest carbs are the ones that come from
non-starchy vegetables (mostly alkaline!- in the body) and the worse are from simple refined (mostly acidic-in the body)cabs like sweets, pasta, pizza, sugary foods,sodas (tonic water, plain soda -not  sweet pop!- are OK on occasion).
Your inability to process and digest fats is a serious concern as many functions depend on adequate levels of
cholesterol and other fats.
The concern with  low fat & low cholesterol is that it is puts you at a much greater risk than high fat, high cholesterol.
It is instrumental in cellular membrane production, hormones, vitamin D, bile and  necessary for absorbing any fat soluble vitamins/ nutrients.
The brain and the entire neurological system are cholesterol-dependent for their function.
Myelin production is absolutely dependent on cholesterol synthesis in the glial cells.
You can understand the point, I'm trying to make.
So the thing to do in order to rebalance things in your body, so your health can eventually improve is to improve
fat breakdown/metabolism.
Have your doctor check you for low lipase (enzyme which breaks down fats) and low bile salts or other causes.
If s/he's not willing to help you with this, RUN to another
doctor who will! A  reputable Functional medicine or
Holistic Doctor would be my choice.
The human body cannot sustain itself and remain healthy when deficient in fat and cholesterol.
On the other hand, it can function very well with very low carbs (mainly from fresh vegetables and less from whole grains).
Please read again my original reply-some technical stuff
are like Gibberish to many people,lol!
This way you may be able to connect better the points I try to make.
I hope this helps and please let me know if you have any questions.
You seem to have the motivation to see things through and get better. I know you can do it!


I'll look into being tested for the enzyme (or lack thereof) that you recommended. I'll probably have to see my primary care provider for that, since it's not a neurological test.

The Charcot Marie Tooth test was negative. I'm making an appointment to see him ASAP to talk about what happens next (like being tested for Parkinson's). If that's positive, I'll look into clinical trials through The Michael J. Fox Foundation. I've already signed up to volunteer with my local chapter.

Also looking into seeing a nutritionist. Only problem is that I'm on medicaid and it's not likely that there's one close by. In fact, I think I checked recently and there wasn't. I lucked out with the neurologist. The ENT (for my hearing loss/atresia which I've had since birth) was incompetent. It's like a game of darts, but hopefully it'll be over soon.

I've made a "plan" so to speak, of what I can do to try to do things to take my mind off the test. But I don't want to run myself ragged when I have fatigue and then get really sick (like the flu, a bad cold, etc).
14471348 tn?1434687592
Don't have inherited disorder doc checked for, and he says it's not Parkinson's. My dad was worried that I was researching on the internet. I probably shouldn't research symptoms. Next step is to see my GI about my autonomic symptoms. I'm going to ask to have my hiatal hernia repaired (since soda actually helps me when I'm nauseous) and acid isn't ideal since I have the hernia.

The other step is to see a movement disorder specialist, where they will do a battery of other tests, since my doc doesn't think it's neurological. He says there's not much he can do since infections and neurological causes have been ruled out, and I'm not diabetic.

My psychiatrist wants to examine me, and do some tests of his own. I'm going to have my neurologist send him the test results/see if they've already done so. Other news is that that he works at a hospital, and the hospital does research and they're interested in doing a study on me and my twin sister. We both have epilepsy and mental illness, but we have different variations of them (especially the latter). They want to do a full genetic history to see where we differ and we're the same, so that could possibly lead to a diagnosis. Best part, the hospital would pay for it.

I have to write down every symptom I'm experiencing and put an asterisk next to the one my twin is having, too. I probably won't have to, since she hasn't been having any.
Avatar universal
i have ms...i fell hitting the back of my head...in turn two years later the scar tissue broke off damaging the brain,,,,everything yr explaining sounds like what was happening to me...my dr. said ms is very difficult to diagnose..good luck hun...
I'm applying for a service dog. A friend of mine has one for mobility, and it reduces both her balance issues and fear of falling. If you're not allergic and have time to care for a dog, it's an option. Plus, they give good kisses and comfort. Just beware of service dog fraud (if a company charges you upfront, run for the hills). Little Angels Service Dogs in CA is good, but they only take 20 applicants a year, since they're one of the few organizations that do psychiatric service dogs for people who aren't veterans (and I think the only one in CA that accepts applicants from every state).
1530171 tn?1448129593
All good what you're posting, however, I fail to see how this merry-go-round ride is going to lead to effective treatment.
One thing I need to correct-sometimes my brain is ahead of my typing lol!- is the fact that insulin resistance in the brain causes GSK3 levels to increase (not decrease)
Elevated GSK3, an enzyme which regulates glutamate
production as I mentioned before, cause increased levels of glutamate.
BIPOLAR association-->
Elevated glutamate is a neurotransmitter which triggers hyper-excitement and mania.
Eventually, the hyper-excitement and mania cannot be sustained, glutamate levels plummet and depression sets in.
There may be other factors present as well, besides high carb consumption &  brain insulin resistance.
If I were one of your doctors, I would also check your glutamate-glutamine cycle, which is a major recycling mechanism of glutamate and GABA in the brain.
Elevated glutamate levels have also been implicated
in many cases of EPILEPSY, with a subset of these
showing a deficiency in  glutamine synthetase (GS)
an enzyme responsible for removal of extra-cellular. glutamate.
The above are extremely pertinent to you and should be ruled out, before proceeding with another wild goose chase and  fancy University studies.
BTW: It is known that even Identical twins do not have identical DNA as you correctly mentioned.
"Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles"
--Source: The American Journal of Human Genetics
March 2008
However, the genetic variations, may not be enough
to help lead to a diagnosis, when some of the fundamentals like what I have suggested have been mostly ignored by your doctors.
It has also long been known that  twins develop differences that result from environment and lifestyle, known as epigenetic changes.
Nutrition, diet, alcohol, drugs, exposure to chemicals,activities, fitness level, etc.
over time can be lead to these epigenetic changes.
I feel that some of the answers you're looking for are a lot closer than you think.
Best wishes!
I'm getting a second opinion immediately (I have to wait until the 16th to see my psychiatrist and he will do an examination himself). We're then asking for a referral from him for a neurologist.

My neurologist said he could tell a person had parkinson's "just by seeing them walk" and now my mom and I realize that's not only pretentious but ridiculous since those symptoms don't appear until later.

I had an infection as a kid. H Pylori bacteria. It's so difficult to test for that the treatment is to prescribe antibiotics and see if symptoms improve. As a kid, that worked. It might not be that now, but things can come back.

My sleep schedule is a bit off, but regardless of when I sleep, I am always lethargic, and that's a symptom of H Pylori bacteria infection.

I'll ask my primary care doctor tomorrow about my glutamate-glutamine cycle.
Avatar universal
sorry i forgot to add my legs and arms feel like cement...or walking i feel like im going to fall through the floor....even knowing i wont its scary as hell...

Avatar universal
lmao....wow....let me guess nothing better to do but put yr fellow man down...we are so beneath you i guess we didn't catch on she was politely telling you she "doesn't over or under do it with carbs'....i have EPILEPSY...like i said it's very hard to diagnose someone for ms...but we do know the epilepsy is  what caused the ms....falling and hitting my head produced (oooh a fifty cent word for ya) produced the scar tissue which in turn broke up into pieces and damaged the brain....also epilepsy can be caused by hundreds of things....yr blood test may tell her this is the answer or she might never find out what caused ANY of it....u take care...
I eat healthy carbs (whole grains) and often vegetables. The things that have me more concerned are that certain spices and vegetables make me nauseous now. I make green smoothies and now even those make me nauseous. It's gotten so bad that I can often only tolerate saltines, whole grain bread, and occasionally vegetables.

My mom made one of my favorite celery soups tonight, and I could barely tolerate that.

I mean, at this point, I'm willing to consider almost any option since it could literally be anything.

My MRI was clean, BTW. I haven't had one of my spine so maybe a new neurologist will order one.

Another concern is that my neurologist might drag his feet sending files to the new one (once I get one) since doctors get territorial sometimes over patients and don't like losing patients. But I have to be my own advocate, especially since so many neurological things mimic mental illnesses like my bipolar.

Thanks so much for your help.
Also haven't had a seizure since I was 15. 11 years seizure free.
1530171 tn?1448129593
Hey dramaturgchick.
Since you're open  to explore anything, I would suggest-along the same lines as I'm thinking so far- to go low carb, low glycemic and gluten free...if you can, for a few weeks.
--Whole wheat bread (it is more nutritious than white)
has about the same glycemic load as white bread!
It means it provokes the same insulin response. as white.
Search for the complete glycemic index online (I would go easy on high fructose foods-which are lower on the G.I)
--Grains/carbs/gluten intolerance
Look into Gliadin test (urine), by Cyrex Labs. They test 12 forms-not just the alpha ordered by most doctors- of gliadins regarding gluten intolerance (not necessarily only digestive and perhaps not immediate).
Now they can also test which part of the body is affected.
My suspicion in your case is Digestive/GI and/or Brain/Neurological.
Gluten effects may be experienced for weeks after gluten elimination.
It would be wise to rule out Candida ( yeast overgrowth infection) and Leaky Gut Syndrome.
Your doctor might not be very open to this, so first try a self test : Saliva test for Candida. It is very easy and fast.
Look it up online.
Best wishes,

I'm not gluten intolerant. My doc gave me some probiotics. He actually wants me to eat fat to put on weight, and to start exercising more.

It's more likely an issue with my pancreas, so he gave me something to take with meals to break down fat.

My psychiatrist spoke to his boss, and the boss wants to test for a mitochondrial disorder. Yet my psychiatrist is going to evaluate me first, to see if he agrees or not, and to see if he thinks I need additional neurological tests.
1530171 tn?1448129593
Hmm, you don't know for sure that you are not gluten intolerant, as any delayed reaction which can affect ANY part of the body, cannot be attributed easily to gluten directly!
That's why I mentioned the gliadin testing by Cyrex labs.
If you measure antibodies against only one component of wheat (alpha-gliadin), you will miss 50% of the time gluten sensitivity.
Cyrex tests for 12 different ones!!!
Also individuals with gluten sensitivity are often highly reactive to other foods: for example, in 50% of cases, there is reactivity between wheat and dairy proteins.
Cyrex Test : Gluten-Associated Cross-Reactive Foods and Foods Sensitivity.
Your psych's boss is probably onto something promising,
that definitely has a strong energy impairment basis.
But psychs are pretty high on the medical hierarchy list
and along with this there's often the potential of an ego
play that can work against you the patient .
I'm glad your doc suggested probiotics and lipase was it ?to break down fats. These will help a lot.

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