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486038 tn?1300063367

help- have more results and am rather lost (Quix?)

Genetic tests, and MRI reports are in my hands. I don't know whether to laugh or cry. My C-spine and T-spine and perfect, according to the MRI done without contrast. Now what?

So, I looked through the rest of the information, and saw that on their handwritten reports they did note that I had a lot of neurological deficits, it appears that they did totally believe me. It's rather stunning to see how bad everything looks on paper.

Now, on to the bad parts. I got my genetic testing, and am rather ticked about it. It looks bad. Please help me decipher it and just decide who I can take it to... I know it can't be ignored.

The Amino Acid Qantitative Plasma panel (include 23 tests)
Looks good, except for a low hydroxypro (I googled this, it's becuase of my high lactate)

Ammonia- good
Homoncysteine-good

Acyclcarnitine Quantitative Profile, Plasma
Tests 29 things- all good.

Organic Acids-Urine
NoT good! Basically...

Lactic Acid is HIGH
Pyruvic Acid is HIGH
creatinine is high?
ten other things on here were not able to be determined??? That was their result NOT DET?

And the Dr. was concerned about me having some type of genetic muscular disorder due to my result of my high pyruvic acid result of a blood test that was taken several months back and that she saw in Oct.. It was 1.76 out of a reference range of 0.30 to 1.07 and my lactic acid at that time was normal..... it was .9 out of .4 to 2.0. So, she ordered this panel.

LASTLY... (this really ticks me off) the genetics dr. really wanted to two other tests and they were cancelled- the blood test for pyruvate (cancelled- no specimen receieved) and very long chain fatt acid (imporproper collection). This really is a bother!!!!!

So, what is this? How does this play in with the patches on my brain scan in the brain stem and the 2 O-bands on the spinal tap, and the other symptoms and a clear spine MRI??? And the fact that I can only handle so much movement, and then my muscles give out and need rest, I've found that my PT is to much and that it was harming me, and causing a replapse of sort of my symptoms. Talk about confusing. I just don't know where to turn now. What field of medicine will be able to help??? Quix????

Note: I haven't seen these dr.'s since all these tests were run... they basically dropped me like a hot potatoe it had seemed once they decided it wasn't MS (they are MS specialists) and I do understand that I'm probably not facing MS.... so I need someone else to help me..... and I asked for a referral and they refused to give me one, which is when I decided to get these records and go somewhere else.

Sigh
~Sunnytoday~
16 Responses
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486038 tn?1300063367
Dawn.... I first had trouble with my balance about 2 years ago at least and I started falling backwards (never forwards, and I still do this today, lots), and now looking back, I had trouble picking up my feet about then too, I would stumble and fall. It wasn't until after I had trouble with heat in Jan. of 2008 and the O.N. attack in April that I had muscle weakness in my legs that had me shuffling to get around... it got worse from there and now I can't pick up my feet to walk- hence the AFO's that I will be getting today. And yes, I did go from running in the beggining of april to using a wheel-chair part time to get around now.

I've never had an EMG done, I've had a lot of other tests done... EEG, 5 MRI's now, so much lab work they must have drained out all my blood twice, and Evoked Potentials (I have them posted in my journals, they appear fine and ok, which is why the MS dr.'s are shaking their heads). And a few years ago, rheumatologist tests, x-rays, gastric emptying studies, heart tests, etc. Out of this, of course, came the fact that I was dx'd with several other things that doesn't connect (high blood pressure, gastroparesis, heart palpitations.. etc), and then all this neurology symptoms that don't match.

I'm only using the wheelchair for long distances, and once I get my AFO's today, I only hope to use it when my balance is off, or I have to go too far, as I've found that I have some weird type of excercise intolerance... if I go to much I just get so exhausted I fall asleep and I slur my words and my muscles just drag everwhere and if it gets too bad they start to shake. Yeah, I had to quit PT, they just didn't understand, they were saying that for a neurological disease repitition is the the key, but for whatever i've got to much going going going is certainly putting me into relapses.

I can't say that I have a mitochondrial disease, I've got a lot of strange symptoms that would match, and a several that wouldn't. BUT, I would be happy to be diagnosed if a dr. could explain to me exactly why he thinks that's it according to tests results. Oh, and my pyruvic acid was high the first time it was ever tested, in my blood in Sept?? And yes, at that time and had been for some time as I had metioned feeling terrible. And it was in the organic urine panel just run in Oct. that they saw that the pyruvic acid had gotten higher and the lactic acid was high now too. So, I suppose that would be the test to show if the kidneys were filtering it out or not? And that would be a no. As far as the health of my kidneys, I have no clue. Last fall they were in rather bad shape- I had several infections back to back and was bleeding and so they did a scan on the kidneys and showed a cyst, which they told me not to worry about and said "you are fine, you have no kidney stones" and sent me home. :)

As far as going back to a dr. That would be difficult. The local neurologist I saw when this all started decided that this is in my head, and said "when you come back in 6 months, I will try you on another anti-depressant drug". so, there went N#1. Neuro #2 was better, he was a good guy at NYU... and he tried hard. But along came N#3 who said, I am the top guy here and I have no clue what you have, and you have a clear evoked potential, let's refer you to our top neuro at this facility. BUT, unbeknown to me... and they never told me this... TOP neuro did not accept my insurance. So they shipped me off to N#3 a genetic neuro... who said "I cannot localize this, you have lesions in the white matter, trouble in the gray matter, and problems with your autonomic systems... you do not have anything I treat, I should be able to think outside of genetics, I am a neurologist too. If you like we could admit you to the a seizure unit, but i have no other ideas.."

NOW---- Keeping in mind that the last three neurologists are in NY, have told me that they have no clue, and have not told me that they will keep looking.... I do not want to pay for tickets, hotels, transportation, etc. right now, I just cannot afford that and then to hear that "we just don't know".  That is why I am going some-where new. I can not just go and take these results back there again... that is why I am starting over again.

So, does that explain my situation a bit better? I'm rather stuck... so I've gathered all my reports, my MRI's etc. and I'm off to find another dr. This of course, doesn't mean this next dr. will know any better, but at least I can try??? Right???
I've learned from this forum that I can't give up. :)
~Sunnytoday~
Helpful - 0
627388 tn?1222198212
Hi Sunny.  Sorry, it took me some time to get back to you.  Take a look at this website http://www.mda.org/publications/mitochondrial_myopathies.html and click on the blue text to the left of the page.  You will see that mitochondrial myopathy diseases are a group of many diseases that distrupt the functioning of the mitochondria and lead to numerous symptoms, not only of the skeletal muscles but depending on what type of mitochondrial disorder a person may have, they may present with a variety of neurological, heart, kidney, liver, eye, and digestive symptoms.  Think about it, the mitochrondria are the basic energy machinery of all living cells and they supply energy by forming ATP to all organs, tissues and cells in the body.  So, patients may show symtpoms in different organ systems secondary to their mitochondria disease.  

I'm really shocked that you have had major muscle weakness for a significant period of time and that your blood serum showed high levels of these metabilities and that your neurologist has not done an EMG and muscle biopsy yet.  From what I recall your muscle weakness has developed so rapidly that you are in a wheelchair, correct?  Tell me more about how/when your muscle weakness began?  When your Lactic Acid, Pyruvic Acid, and Creatinine was elevated did you have any muscle pain, soreness or fatigue?  Did you doctor test your urine at the time to see of your kidneys were functioning properly and if they were filtering these metabilities out?  Have you had any problems with blood or myoglobin in the urine?  Often when a patient presents with significant muscle weakness that causes them to feel weak and walk abnormally a neurologist will first do an EMG/nerve conduction test which will hopefully (but not always) show which muscles are weak and then depending on the results of the EMG and other blood tests like (CPK levels, lactic acid, and Pyruvic Acid etc) then they may order a muscle biopsy.  However, there are problems with open muscle biopsy....such as deciding what location to take the tissue sample from, its invasive and doesn't always lead to useful information meaning that if the doctor doesn't take tissue from the right area the test may come back normal even when there's still a disease of the muscle.  Some patients will go through many biopsy's till the test finally shows a defecit.

I think you should go back to the neurologist and get an EMG/nerve conduction test, and then speak with the neuro about getting a muscle biopsy and have the slides analyzed by a neuropathologist.  To have a muscle biopsy done you usually have to go to a local hospital and be given a local anasthetic and its a simple out-patient procedure. If you have one of the myocardial myopathy disease or some other disease of your muscles these test should help you get diagnosed.      

I really loved your imagery about your dreams.......if only I had the sweet dreams as you described above.  Last night I had a horrible nightmare and I couldn't fall back to sleep.  I don't want to give you the details you mite think my subconscious is too twisted!

Dawn
Helpful - 0
486038 tn?1300063367
Jenn, Elaine & Bio,
I will ask about a mitochondrial disorder, especially since it has been brought up before... although I think the problem is that I am showing definite neurological problems (see other current post) and they were looking for just muscular problems and the two weren't matching... perhaps I have two conditions together???
Thanks so much for all of the input, it's been very helpful!!
~Sunnytoday~
Helpful - 0
378497 tn?1232143585
Watson took the words right out of my mouth (or the ones that came into my head when I read that about your pyruvate): MITOCHONDRIAL DISORDER. There are about a zillion of them, but you should definitely, definitely ask about it.

Bio
Helpful - 0
Avatar universal
Hi Sunny,
   There is a baseball player on the Tampa Rays that has mitochondrial disease.  He has many symptoms that actually sound like MS and he searched for many months for a diagnosis.  Even with all of his fame and money, he still went many months waiting for a diagnosis.

  His legs are heavy, hurt to move them, get muscle spasms, and he has to rest between innings in the dug out.  He takes 40 supplements a day.  Many times, treatment for mitochondrial disease is anti-oxidants to give the cells and muscles energy.

   His last name is something like Baldelli or something.  If you call the Tampa Rays management office, you could get some information.  Maybe he would tell you who diagnosed him.  Just a thought.

   I certainly hope you can find answers.

   Elaine
Helpful - 0
338416 tn?1420045702
Ooh...  that's the first time I've heard anybody mention a problem with the mitochondria.  Watson may have something there.

And Sunny, life is fatal.  Everything kills you, sooner or later.  You're doing the best thing for yourself - enjoying the life that you have right now.

What is it with these doctors either having too much compassion or not enough?  I would go back to the genetics doctor to ask for that muscle biopsy.  At least she can serve to eliminate the possibility of a genetic disorder.  Say you read it in a book somewhere.  Or heard about a case while you were at work.

Dreams...  A few days ago, I dreamt that I was running - just taking a jog through the neighborhood, like I used to do, arms swinging, just a gentle trot, with wind rushing past my face.  So I got the bright idea of taking a jog when I got up!  Meh.  I got about five minutes into it before I had to stop.  But the thing was - I got five minutes in.  That was more than I expected.  Dreams give me inspiration, and hope - sometimes bad ideas, but good ideas too.
Helpful - 0
486038 tn?1300063367
Watson, I'm all for answers. Who on earth would I talk to about getting a muscle biopsy... as in, what type of doctor would do such a thing? I'll have to balance the knowledge I have and the fact that I do need to rely on the doctors to intrpret the reports to their discretion as well, and not make it known that I've googled my results and am wondering what they mean. (which is a scary prospect).

I'll never forget the Genetics dr. looking at me and saying " I don't want to diagnose you with a genetic disorder... it's fatal. I only do that if couples want to have kids, and they need to know if their children will be affected. To tell you would be hard, you are too young" I stared into her eyes and said.. " I just want answers..." but I could see that she wasn't hearing me... she just couldn't do it. So, she just said... I can't localize it, but I will do more tests. She was trying harder than the Dr. H & K at the MS Center, and I understand, they were lost, I am a confusing case here.

Well, I'm off now, good 'night everyone. Best dreams for all tonight! I want to dream of a land where I can run free through a meadow filled with flowers that are in full bloom, and that is full of beautiful butterflies floating through the soft breezes.... imagine me there.... happy, free, and smiling.....and, can't you see the lake off to the side, shimmering in the sunset that is glimmering of the edge of the mountains... what do you want to dream of tonight????
~Sunnytoday~
Helpful - 0
627388 tn?1222198212
Having high lactic acid, pyruvic acid and creatinin levels would indicate to me that you have a major metabolic problem....possibly of the mitochrondria.  A diagnosis of one of the mitochondrial myopathy type diseases could explain your heart problems, seizure type activity, muscle weakness, balance problems, and drooping eyelids etc that you have had in the past.  It would also fit with your age being in your early 20's.  However, these diseases are genetic and very rare.

In mitochondrial myopathy diseases, lactic acid and pyruvic acid can be elevated and may indicate deficiency in electron transport (the primary function of mitochondria is to provide cellular energy via electron transport); abnormal ratios of lactic and pyruvic acid may help identify the part of the electron transport chain that is blocked due to mitochondria damage.  Creatinine may also be slightly elevated in mitochondrial disease but usually only high in cases of mitochondrial DNA depletion.  The high creatinine levels combined with these other metabolities in your system would indicate to me that you have a major problem with your skeletal muscles and in light of these lab findings and your symptoms the first thing I would do is get a muscle biopsy ASAP!  But, I'm no medical doctor I'm just somebody wanting you and everyone on medhelp to get the help and the answers they so desperately need.......including myself!
Helpful - 0
486038 tn?1300063367
yes, the ammino acid did have those thing included and they were all fine, the only thing off on that panel was the

hydroxypro
0 (reference range 6 to 50)

Thanks for the info that panel, LuLu!
~Sunnytoday~
Helpful - 0
572651 tn?1530999357
I may be a bit behind in my response but here is a bit I found:


AMINO ACID PROFILE, QUANTITATIVE

This panel is used to monitor body functions and nutritional status.

In the body, certain inborn errors can result in the loss of a specific enzyme or transport activity. These errors can manifest as an alteration of normal metabolism of one or more amino acids. The identification of one or more of these metabolites is useful for the detection of these inborn errors of metabolism. Increased amino acid concentrations in plasma may reflect inherited metabolic abnormalities, as in the tyrosemias or phenylketonuria. This panel inclides the following amino acids:

alanine   hydroxylysine
beta-alanine   hydroxyproline
amino-beta-guanidino-propionic acid   isoleucine
alpha-amino-N-butyric acid   leucine
alpha-aminoadipic acid   lysine  
gamma-aminobutyric acid   methionine  
beta-aminoisobutyric acid   1-methylhistidine  
anserine    3-methylhistidine  
arginine    ornithine
asparagine   phenylalanine  
aspartic acid   phosphoethanolamine  
carnosine    phosphoserine  
citrulline   proline
cystathionine   sarcosine
cystine   serine
glutamic acid    taurine
glutamine    threonine  
glycine    tyrosine  
histidine   tryptophan
homocystine   valine
Helpful - 0
486038 tn?1300063367
yes, it was the organic urine test, and you are right that it normal to have creatinine on it... it didn't have a reference range for that particular one and so that is why i had ???? marks, I was looking it up on google to try to see what a normal range was. :)

My creatinine was 171- I think that's ok, right?

My lactic acid is high though and so is my pyruvic acid according to the reference values on the lab papers... it's marked HIGH in rather bold letters. :)
Helpful - 0
338416 tn?1420045702
Oh, no, wait - this was your organic urine test?  I think creatinine is normal in urine.
Helpful - 0
338416 tn?1420045702
All the acids that deal with muscle movement are high, which tells me that the filtering processes in your body aren't working right, or that your body is producing extra acids to make your muscles move.  High creatinine levels are associated with nephron disfunction - meaning that it's possible your kidneys are not working properly.

Now why would they decide they couldn't help you, and then refuse to give you a referral?  Are they going to do any more research?  Or have they washed their hands of you?  If they're done, I think they really should give you some ideas of where to go next.  It seems rather unfair that they're just giving up.
Helpful - 0
293157 tn?1285873439
yeh...that is confusing today.. it's good that your MRIs are clear... I know it difficult when you are taken in a different direction with other tests...but that is what it looks like..

let us know what the results mean?  Very curious with this one.. do you have a GP in your area that you could take the result too and get the incompleted testing done again, so you have those results.. (that happens so often when I have blood tests - I have to redo them)...

take care
wobbly
undx
Helpful - 0
486038 tn?1300063367
Oh, good grief. I just got a $2,000 bill for just one of these labs that was done a few months ago. Thank goodness for insurance, or we'd be bankrupt.

Shell- thanks for helping me research this. I'm going to get off this 'puter and foget about it for a few hours.

Basically, I want to know why my pyruvate keeps getting higher and my lactate is high now too. Note: it's high in the urine and blood tests.

The NYU dr,'s are not helpful in shedding light, unfortunetly, which is why I've got these results in my hand and am going somewhere's else.Any suggestions in the United States would be wonderful. we are open right now to all suggetions (even though I have appt. at Vandy and Mayo). Perhaps I will end up back at some type of muscular dystrophy or genetic thing. Wonder if those present with O-bands?
~sunnytoday~
Helpful - 0
198419 tn?1360242356
Hi Sunny-Bunny,

Just letting you know I'm reading this.  Hang tight honey.  I know you are a bit freaked. I am glad the spine is clear.  Just need some insight on the tests.

I do know this happens a lot of times when a lot of blood is drawn at one time.  Sometimes they do not take enough and then the lab needs more, or they cap it wrong and the lab can't run it, etc.

I'll do some research if I can today.  Just letting you know I've read this and I wish the Drs would shed some light on the results.  Can you call them? Wouldn't hurt, right?

ttys,
Shell
Helpful - 0
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