Is What This Doc Said Accurate?

[MissFae]

Quick history:
- I have had "Chronic Fatigue Syndrome" for practically my entire life, which isn't normal because it's not supposed to be childhood onset, so it's probably an undiagnosed something else.
- My son passed away from mitochondrial disease (Leigh's syndrome) almost 2 years ago. He was a couple months shy of his 10th birthday
- Mitochondrial disease can mimic MS and chronic fatigue syndrome, but is hard to diagnose
- There's no definitive test for mito, but I am going to revisit the issue with the geneticist and go for a skin and muscle biopsy ASAP (which is probably not that soon at all).

I had an episode 2 weeks ago which does not fit any of the typical "chronic fatigue syndrome" type stuff I deal with. It has progressed and changed and morphed into a totally new and different beast since then. It started with me falling asleep unexpectedly. I don't know if I took an involuntary nap, or passed out, but when I woke up, I was clumsy, disoriented, confused, making stupid mistakes. It was bad for a couple days, then gradually eased up. I was having weird perceptual issues, mixing words up, doing things like running the dishwasher with no water....mostly things that could happen to anyone, but not usually all at once. I had to decline to handle client medication at work and drive clients around at work because I wasn't comfortable with the perceptual and attention issues I was having. I also had severe bouts of fatigue, which I HAVE experienced with chronic fatigue syndrome, but not to this level of severity recently.

I saw my doctor about 4 days in. He had a student with him. They talked it all over, went over my history, each came up with an idea, ordered some tests. They were talking about temporal lobe epilepsy, for which they ordered an EEG, which won't take place for almost 2 months, and MS. The mitochondrial disease question is still there, but I had to take that up with my geneticist on my own. I have an appointment with him in a month.

A few days later (not quite a week after the first episode) I had a sore right elbow for no reason, couldn't recall an injury of any sort. The next day, I had numbness/tingling in my right hand. It was along the right side of my hand, pink and ring fingers, and in my forearm. While I'm aware that numbness is an MS symptom, I knew I'd look like a total hypochondriac if my doc said MS and I went back a few days later with a new symptom....so I did the sensible thing and turned to the internet doctor to look for other explanations. I identified the nerve that was affected and did some exercises to release it should it be pinched in my unreasonably sore elbow. Nothing worked right away, but it did resolve rather suddenly around noon the next day. A couple days later, it recurred to a lesser degree, then it found its way into my opposite hand, with the same pattern (pinky and ring fingers, outside of hand and forearm). Then I had some numbness in my left foot. That continued for about a day, then I ate some soup, and my tongue went numb as soon as I finished eating, then a little while later, my teeth joined my tongue. It felt like the dentist had frozen them. Then my lips, then my cheeks, then my eyes got numb and tingly and twitchy, then eventually my forehead. As it moved up my face, it seemed to lessen gradually in the lower areas. At first, I thought it was the soup's fault, but then when it made its way up to my forehead that didn't make as much sense. That night, my back was tingly and numb all night. It felt like cold and kept waking me up. I also experienced a lot of stiffness/popping/cracking in my neck and spine overnight and all day the following day. Throughout the entire two weeks, I've been plagued with severe fatigue ongoing. Some bouts are worse than others, but EVERY DAY I am unreasonably tired for at least half the day.

I took myself to the ER the morning after the tingles kept me up all night. I traveled an hour away from home to stay with family because I'm having difficulty caring for myself and my son, so my regular doctor wasn't as easily available to me....but I was hoping they'd consult my geneticist at the hospital. They failed to get ahold of him while I was there. The doctor didn't ask many questions, did a quick check of my coordination, which was fine at the time, ordered an MRI (I don't yet know when it will happen) and sent me home.

Ok, here's my question: He said that while he did think it was reasonable to look for MS, that my symptoms sounded atypical because they were travelling too fast. He said that MS symptoms typically take more like weeks to months to show up and resolve, rather than hours to days. How accurate is that?

I'm not convinced I have MS. It could be mitochondrial disease in disguise. The same doctor seemed doubtful about that, but he clearly knows exactly nothing of mito (he said something about it that was very inaccurate, so I don't trust him about much else). Mito can be maternally inherited (but not always), which would pretty much 100% guarantee I had it to some degree and there are mystery problems all the way up my maternal family tree that could be explained by mito. I just want to know what the most likely outcome is. If it's atypical MS symptoms, then an other explanation might be more likely. If it ends up that it's perfectly classic MS...to be perfectly honest, that's got a way better prognosis. Probably don't get a lot of people hoping for MS around here, huh?

My little boy, who had to watch his big brother deteriorate and pass away, overheard me discussing this on the phone the other day and turned around and asked me if it meant that I'd be dying soon. I hate not knowing what's going on. I'm the type of person who can handle just about anything with a plan of attack, but I can't make one unless I know what I'm dealing with.

[Scott1]

Could I ask you to read the work I put on the Regimens site called "Beyond Avonex and Valtrex" at http://www.thisisms.com/forum/regimens- ... 24019.html as I think it is particularly applicable to you. I'm sorry if it is a bit wordy. Towards the end I have a section called "what I would do if I was just diagnosed". I hope it is some help to you.

Regards

[lyndacarol]

Welcome to ThisIsMS, MissFae.

Quick history:
- I have had "Chronic Fatigue Syndrome" for practically my entire life, which isn't normal because it's not supposed to be childhood onset, so it's probably an undiagnosed something else.
- My son passed away from mitochondrial disease (Leigh's syndrome) almost 2 years ago. He was a couple months shy of his 10th birthday
- Mitochondrial disease can mimic MS and chronic fatigue syndrome, but is hard to diagnose
- There's no definitive test for mito, but I am going to revisit the issue with the geneticist and go for a skin and muscle biopsy ASAP (which is probably not that soon at all).

My heart goes out to you for what you have endured. There are no words adequate to describe the sadness that you know.
As for mitochondrial disease mimicking MS, Dr. Terry Wahls, who has written the book, Minding My Mitochondria, believes that MS IS a disease of the mitochondria – her website: http://www.TerryWahls.com

I had an episode 2 weeks ago which does not fit any of the typical "chronic fatigue syndrome" type stuff I deal with. It has progressed and changed and morphed into a totally new and different beast since then. It started with me falling asleep unexpectedly. I don't know if I took an involuntary nap, or passed out, but when I woke up, I was clumsy, disoriented, confused, making stupid mistakes. It was bad for a couple days, then gradually eased up. I was having weird perceptual issues, mixing words up, doing things like running the dishwasher with no water....mostly things that could happen to anyone, but not usually all at once. I had to decline to handle client medication at work and drive clients around at work because I wasn't comfortable with the perceptual and attention issues I was having. I also had severe bouts of fatigue, which I HAVE experienced with chronic fatigue syndrome, but not to this level of severity recently.

I agree with your first sentence… I think the "Chronic Fatigue Syndrome" is probably "an undiagnosed something else." You will find that many of us here at ThisIsMS have our unique ideas about our illness – currently, mine revolve around wheat/gluten sensitivity and excess insulin (and resulting insulin resistance). In your medical history, I hope testing for gluten sensitivity has been done.

I saw my doctor about 4 days in. He had a student with him. They talked it all over, went over my history, each came up with an idea, ordered some tests. They were talking about temporal lobe epilepsy, for which they ordered an EEG, which won't take place for almost 2 months, and MS. The mitochondrial disease question is still there, but I had to take that up with my geneticist on my own. I have an appointment with him in a month.

A few days later (not quite a week after the first episode) I had a sore right elbow for no reason, couldn't recall an injury of any sort. The next day, I had numbness/tingling in my right hand. It was along the right side of my hand, pink and ring fingers, and in my forearm. While I'm aware that numbness is an MS symptom, I knew I'd look like a total hypochondriac if my doc said MS and I went back a few days later with a new symptom....so I did the sensible thing and turned to the internet doctor to look for other explanations. I identified the nerve that was affected and did some exercises to release it should it be pinched in my unreasonably sore elbow. Nothing worked right away, but it did resolve rather suddenly around noon the next day. A couple days later, it recurred to a lesser degree, then it found its way into my opposite hand, with the same pattern (pinky and ring fingers, outside of hand and forearm). Then I had some numbness in my left foot. That continued for about a day, then I ate some soup, and my tongue went numb as soon as I finished eating, then a little while later, my teeth joined my tongue. It felt like the dentist had frozen them. Then my lips, then my cheeks, then my eyes got numb and tingly and twitchy, then eventually my forehead. As it moved up my face, it seemed to lessen gradually in the lower areas. At first, I thought it was the soup's fault, but then when it made its way up to my forehead that didn't make as much sense. That night, my back was tingly and numb all night. It felt like cold and kept waking me up. I also experienced a lot of stiffness/popping/cracking in my neck and spine overnight and all day the following day. Throughout the entire two weeks, I've been plagued with severe fatigue ongoing. Some bouts are worse than others, but EVERY DAY I am unreasonably tired for at least half the day.

I am intrigued by your mention of numbness/tingling in the pinky and ring fingers – two or three new members recently have mentioned this same symptom. As you may know, numbness/tingling in the fingers, hands, toes, feet is the definition of peripheral neuropathy. Compare your doctor's investigations of this to these suggestions from the University of Chicago:
http://peripheralneuropathycenter.uchic ... #bloodtest

I took myself to the ER the morning after the tingles kept me up all night. I traveled an hour away from home to stay with family because I'm having difficulty caring for myself and my son, so my regular doctor wasn't as easily available to me....but I was hoping they'd consult my geneticist at the hospital. They failed to get ahold of him while I was there. The doctor didn't ask many questions, did a quick check of my coordination, which was fine at the time, ordered an MRI (I don't yet know when it will happen) and sent me home.

Ok, here's my question: He said that while he did think it was reasonable to look for MS, that my symptoms sounded atypical because they were travelling too fast. He said that MS symptoms typically take more like weeks to months to show up and resolve, rather than hours to days. How accurate is that?

In my opinion, MS is filled with "atypical" symptoms – symptoms can come-and-go or stay; can be fast or slow; mild or severe. Now, it might be atypical if your skin turns purple… Wait, easy bruising (ecchymosis) can be a symptom as well, so even purple skin can be part of MS!

I'm not convinced I have MS. It could be mitochondrial disease in disguise. The same doctor seemed doubtful about that, but he clearly knows exactly nothing of mito (he said something about it that was very inaccurate, so I don't trust him about much else). Mito can be maternally inherited (but not always), which would pretty much 100% guarantee I had it to some degree and there are mystery problems all the way up my maternal family tree that could be explained by mito. I just want to know what the most likely outcome is. If it's atypical MS symptoms, then an other explanation might be more likely. If it ends up that it's perfectly classic MS...to be perfectly honest, that's got a way better prognosis. Probably don't get a lot of people hoping for MS around here, huh?

My little boy, who had to watch his big brother deteriorate and pass away, overheard me discussing this on the phone the other day and turned around and asked me if it meant that I'd be dying soon. I hate not knowing what's going on. I'm the type of person who can handle just about anything with a plan of attack, but I can't make one unless I know what I'm dealing with.

in my opinion, you need a physician who wants to be a "disease detective." Doctors of Functional Medicine seek the root of a problem, they do not simply treat the symptoms of disease. I encourage you to investigate gluten sensitivity and its wide spectrum of symptoms. All the best to you. Please let us know what you find and how it goes; (I take the liberty of speaking for many of us here at ThisIsMS) tell your little boy that you will NOT be dying soon; we want to help you develop a plan of attack! We, too, hate not knowing what's going on – we are all searching for the answer.

[MissFae]

Scott- I read your posts, to the best of my addle-brained ability. It's all a bit ahead of where I am right now, but thanks for the input.

Lyndacarol- Thank you for your response. I'm feeling very validated and terrified all at once. I had read a couple articles about the theory that MS is a mitochondrial disorder. There are so many diseases that mitochondrial disorder can mimic. In a lot of cases, sometimes it's mito in disguise, sometimes it's got an other explanation. I don't know whether all MS would fall into the mito category, but given that mito can affect any/every system in your body, it's not surprising that many cases of MS are actually mitochondrial disease. In my mitochondrial family tree (any one in my family who should share identical mitochondria to mine, due to maternal inheritance) there is ADHD (my son, my brother), suspected autism spectrum disorder (my son), chronic fatigue syndrome (myself, my mother, probably my grandmother), sensory processing and integration issues (myself, my son, probably my grandmother), and of course Leigh's syndrome in my late son. While my late son clearly got the raw deal, even his diagnosis took over a year. He initially was labeled "failure to thrive" and I was told to try a little harder to get him to eat, and to stop nursing him because I was coddling him and that's why he wouldn't eat solids. Any and all of the issues I described above can be attributed to mito, along with countless others. It can affect any part of the central nervous system, heart, muscles, digestive system, lungs (indirectly due to CNS damage), and of course; metabolism. I suppose it's most likely that I have mito, which has suddenly decided to start behaving like MS. I'm hoping not though because of heritablility issues...and because if it's mito, it's not restricted to ONLY behave like MS. I'm not even guaranteed a yes or no answer. I can go put myself under for surgery to do a skin and muscle biopsy and they will take months or longer to process it and it will come back either "yes" or "we couldn't find it", the latter meaning very little. Right now, I have to wait a month just to talk to my geneticist about diagnosis. This could be a long, long wait.

I have seen so many doctors trying to figure out the chronic fatigue syndrome issue. Being an invisible disability which is diagnosed based on symptoms, not on any test at all, it is extremely difficult to get consideration or support for it, nevermind treatment. I have yet to find a doctor who cares to invest much effort beyond a bunch of bloodwork into finding out the actual cause of it. I'm not sure we have any disease detectives around here. I do, however have a doctor that will get on board with most reasonable requests for testing and referrals if I bring them to him.

[Scott1]

I was worried you wouldn't follow it. I'm sorry I wrote it like that but it is very complicated.
Try to get your doctor to do a fasting amino acid test then look at the nonessential amino acids against the normal range. I believe some of them will be quite low. The one I suspect will be very low is Arginine. If that's the case then we can do something about that. The other test to look at is your Uric acid level. Again, I imagine that will be very low. If you get an test to show you have had an EBV infection then I can supply a plausible reason for your fatigue if you also have low uric acid. We can do something about that. The things I want you to look at here are things you make yourself rather than things you control by diet. All we are doing is a picture at this point but the readings on non essential amino acids and uric acid tell us a lot.
If you already have those results then they do mean something and I have some suggestions. You need to build a profile based on what you do know or can find out otherwise you are just thrashing around in the dark.
Regards

[lyndacarol]

I have yet to find a doctor who cares to invest much effort beyond a bunch of bloodwork into finding out the actual cause of it. I'm not sure we have any disease detectives around here. I do, however have a doctor that will get on board with most reasonable requests for testing and referrals if I bring them to him.

Given that you are undiagnosed for MS, YOU will have to be the disease detective and the lead person on your medical team. Work with what you have – if that is only a doctor who will order tests for you, that will have to do. In the blood test suggestions from the University of Chicago, "Vitamin B12" is the first one listed – in your "bunch of blood work" has this already been done? If not, that would be a good place to start:

http://peripheralneuropathycenter.uchic ... #bloodtest

Blood tests

Blood tests are commonly employed to check for vitamin deficiencies, toxic elements and evidence of an abnormal immune response.

Depending on your individual situation, your doctor may request certain laboratory tests to identify potentially treatable causes for neuropathy. These include tests for:
• Vitamin B12 and folate levels
• Thyroid, liver and kidney functions
• Vasculitis evaluation
• Oral glucose tolerance test
• Antibodies to nerve components (e.g., anti-MAG antibody)
• Antibodies related to celiac disease
• Lyme disease
• HIV/AIDS
• Hepatitis C and B

The following excellent 50-minute documentary film from filmmaker Elissa Leonard has been previously posted on ThisIsMS by THX1138 and blossom:



I have ordered the book, Could It Be B12? by Sally Pacholok, RN and her husband Jeffrey Stuart, D.O. (both in the video above); I expect there is information in it that you would also find useful (for yourself and the case you present to your doctor – for one thing, 40% of the population is estimated to be B12 deficient).

And so the work begins…

[MissFae]

My doc did specifically order a b12 test. I had been running low, within normal range 12 years ago, just prior to my 1st pregnancy and was on shots for it for a while. My B12 had been tested a couple months ago when I was dealing with some hormonal issues. Doc said it was perfectly normal, but tested it again when these symptoms presented. No calls from the clinic yet, so it was probably fine, but I'll ask him for the exact result when I see him this afternoon.

[jimmylegs]

hi there

i was low in b12 before i got diagnosed too. what does your doc consider ok? you may already know that the b12 range is associated with hematological criteria instead of cognitive criteria. so you can be low normal for b12 and have cognitive deficits that are specific to b12 insufficiency. 500 pg/ml has been proposed in the literature as a lower cutoff.. i had levels waaay lower than that for years but it was never considered a problem at the time, because the normal range is so broad.

only after dx did i start to learn about range issues for b12 and then all the other deficiencies. been learning as much as i can since - this is what i have put together on it so far http://www.thisisms.com/forum/regimens- ... c2489.html

question - have the docs done any other nutrition testing for you, other than b12? specific to CFS i am interested in your magnesium status (another one with an awfully misleading range)

good luck with the doc this aft!

[MissFae]

Darn, I forgot to ask about the B12 when I was in today. Was more focused on my relatively emergent mental health situation. In addition to my health issues, I've had a couple of other stressors thrown in all at once to make me lose my shit entirely. I barely made it through work today, so I recapped the doc on my ER visit from earlier this week and then focused on the anxiety/depression issues that just cropped up. Got him to give me some PRN lorazepam and some Prozac to get me through until i have a better handle on what's going on. Can be difficult to diagnose when the anxiety symptoms start getting mixed up with the others.....and on the bright side, if seizures of any sort did have anything to do with anything, the lorazepam should help that

About the magnesium, I don't know what it's like now, but I was taking supps over the summer because I was running and using a low carb, no grains diet. I was supplementing magnesium and potassium to help with some cramping and other issues. I'm not on any specific diet now, although I try to aim for real food and more veggies than grains. I can ask if it was checked in the previous bloodwork, or ask my geneticist to run it when I see him next month. Maybe I'll see if the clinic will pull it up for me without having to book an other appointment.

[lyndacarol]

I encourage you again to watch this video:

Everything You Want Your Doctor to Know about Vitamin B12

a 50-minute documentary from filmmaker Elissa Leonard, featuring Sally Pacholok, RN; her husband Jeffrey Stuart, D.O. (authors of the book, Could It Be B12?); Lawrence Solomon, M.D., hematologist, Yale Medical School; Ralph Green, M.D., hematologist, UC Davis; Donald Jacobson PhD, Cleveland Clinic



The list of symptoms is extensive – it includes depression and mental problems.

The list of medications that interfere with B12 absorption will interest you, too.

[jimmylegs]

the b12 and magnesium will both have connections to mental health status for sure.

good to hear you were working with mag and k while running. too often athletic people show up here with neurological issues that have clear links to nutrient depletion. may i ask what form and dose of magnesium and potassium you were on over the summer? if they've tested your serum level, make sure you get the result - don't let them just say it was 'normal' that's not specific enough info for your purposes. anywhere in the bottom half of the normal range is not sufficient.

for improving absorption of both, zinc is a good one to think about. couldn't hurt to find out if they've tested your serum zinc as well.

[Scott1]

I think we should start again with this one.
What tests has your doctor done and what results did they show?
Lets look at the "know knowns" and then progress to "known unknowns".

Regards