In testing - desperate for help

[GLR123]

Hello,

I am currently being tested. All bloodwork came back normal, no deficiencie ANA normal although during my first major relapse this came back positive at 1:320 ( docs didn't know what this meant at the time tho). Currently waiting for MRI and evoked potentials to come back. To cut a long story short, 2 years ago in October I had a severe flare up of my symptoms (which I had for years but didn't know what they meant) that lasted for several months. I lost 2 stone, my hair fell out because I could not eat properly due to (unbeknown to me at the time) having gastroparesis (now permanent). Anyway, since then so much damage has occurred I never went back to how I was before - had several flares since. Problem is initially they thought I had crohns/ulcerative colitis because my calprotectin levels were so high in my intestines. I spent the best part of last year being tested which was a complete waste with no Dx. Then after a second flare in January after getting a virus I developed a tremor in my right hand, which then prompted my GP to send me to the neuro. See below a list of my symptoms and when they occur:

During a flare up I get the following:

Tight chest with breathlessness - this can be severe at times
Bladder completely dysfunctional
Severe constipation (needed 2 manual evacs in the last 6 months)
Lose around 50% of my eyesight when its really bad
Slurring speech
Difficulty swallowing
Fatigue
Tremor in my right hand is bad and has now progressed to my whole right arm if I get flare up - uncontrollable shaking until it calms down
Severe depression afterwards


Day to day symptoms:

Gastroparesis - I now supplement all meals with betaine HCL to digest my food
Burning mouth syndrome
Bladder symtpoms - urgency, if I drink caffeine it makes me incontinent ( given it up). Generally my bladder never fully empties so constantly going! (also going at night)
Severe constipation ( I live on laxatives)
Fatigue- Not all the time but when I get this I feel like I've run two marathons with doing anything!
Cognitive problems - sometimes I cant remember words, places or names... it can be quite embarrassing lol
I wear glasses with prisms to help my eyesight - occasional double vision/blurriness
Constant skin crawling and occasional pins and needles ( The oddest one is when it feels like water is dripping down my leg, but nothing there...)
My whole body feels numb from head to toe - a general feeling of disconnection
Weakness down my right side
Occasional problems swallowing
Muscle spasms - esp at night and severe cramping
Water retention
Occasional deep gnawing pain under my left shoulder
Lower back pain
On occasion I stop breathing during my sleep - this can happen if I've drunk alcohol.

Since my first relapse in October I have had to radically change my diet to try and calm everything down so I can try and function. My diet is a low residue, wheat, gluten, dairy, soy, nut, seed, caffiene and (most of the time) alcohol free....so basically fun free! I juice fruit and veg everyday (cant eat veg because of paresis) and live on sweet potatoes, chicken, fish and eggs. Essentially it works...but only to a certain degree, it has not cured me of my symptoms but minimises the amount of flare ups I have.

So... I am currently undiagnosed and to be honest I am terrified that my results will come back normal. It is affecting my ability to have normal life.. I have lost everything. My flat, car, job ( now work from home as a freelance designer) but just about scrape by.. it is no life that is for sure. I can't carry on as I am and I fear without a diagnosis I will struggle to carry on. What I want to know is, in your opinion do I present as a normal Multiple sclerosis case? What are the chances of my other tests coming back normal? Please help... I am pretty much on my last legs here. Any advice would be appreciated and sorry for the long post!!

Thank you...

[lyndacarol]

Welcome to ThisIsMS, GLR123. I have no medical background, this is my advice (since you asked for "Any advice").

All of your symptoms (from losing your hair and weight, gastroparesis… ALL your symptoms) are consistent with a vitamin B12 deficiency. Please examine the following website: http://www.b12d.org/

And this one: http://b12awareness.org/could-it-be-b12 ... diagnoses/

You may find the following 10-minute BBC video interesting as well (note the mention of "losing hair"):

And this "Living with the Fog" video by The Pernicious Anaemia Society, which focuses mostly on the mental aspects (in my opinion):

I find it hard to believe that "all bloodwork came back normal" with the symptoms that you have. Are you willing to share test results? I am curious to know the numbers found with a:
serum B12 test,
HoloTranscobalamin (HoloTc) test,
serum homocysteine test,
Methylmalonic acid test.

We wish you all the best.

[GLR123]

Hello Carol,

Thank you for your reply, much appreciated. I don't have a vitamin B deficiency as I have supplemented for the last year with liquid B-12 and I've had my vit B levels checked and they came back fine. I have been tested for the following, after my first appointment with the neurologist:

ANA, ACE, CS3/C4, ESR, CRP, rheumatiod factor, serum protein electrophoresis, immunoglobins, anti-cardiolipin antibody, vitamin B12 and folate, full blood count. All normal apart from a low C4 at 0.08- although I had a normal reading in Nov 2014 so was disregarded.

What I think is more likely is that there is damage to the vagus nerve, which would contribute to my gastroparesis. My hair only fell out during the first severe flare up.. since then I have managed on a low fibre/ residue and part liquid diet. I have a feeling that my test results came back normal because there is no current disease activity due to my paleo diet and supplementation. Could that be possible? I know many people reverse many symptoms to diet, although it doesn't totally work for me, I am not symptom free as such.

Thanks

[lyndacarol]

I don't have a vitamin B deficiency as I have supplemented for the last year with liquid B-12 and I've had my vit B levels checked and they came back fine. I have been tested for the following, after my first appointment with the neurologist:

ANA, ACE, CS3/C4, ESR, CRP, rheumatiod factor, serum protein electrophoresis, immunoglobins, anti-cardiolipin antibody, vitamin B12 and folate, full blood count. All normal apart from a low C4 at 0.08- although I had a normal reading in Nov 2014 so was disregarded.

What I think is more likely is that there is damage to the vagus nerve, which would contribute to my gastroparesis. My hair only fell out during the first severe flare up.. since then I have managed on a low fibre/ residue and part liquid diet. I have a feeling that my test results came back normal because there is no current disease activity due to my paleo diet and supplementation. Could that be possible? I know many people reverse many symptoms to diet, although it doesn't totally work for me, I am not symptom free as such.

Understandably with your disabling symptoms, you have jumped right into investigating possible causes with all the testing that has been done. I commend you for taking action!

In my unscientific opinion, your hypothesis of damage to the vagus nerve contributing to gastroparesis seems plausible. By the way, it seems possible that gastroparesis might also affect the Intrinsic Factor production in your stomach. Has this been measured? To your question… your Paleo diet and supplementation could very well be affecting your test results. And yes, some people do seem able to reverse symptoms with diet.

I am still curious about your blood test results. Do you have the actual number results for your serum B12 test, and for the folate test? Did you have the RBC or serum folate test? In your full blood count, there should be a line labeled "MCV" (mean corpuscular volume). If this number is near the high end of the standard range (mine was 95.2, with standard range of 82.0-96.0 fL), it indicates that the person has enlarged red blood cells, which condition is called macrocytosis. However, if you take iron supplements, these can mislead the situation and make the cell size appear normal.

In any event, your MCV may be a good topic of discussion with your doctor.

[GLR123]

Unfortunately they didn't give any detailed information with regards to the actual numbers. Being an NHS patient can be frustrating in that sense, as I only see what the neuro writes to my GP, which doesn't include that kind of info. I can totally see your hypothesis with regards to the Vit B 12, it makes a lot of sense and I actually took this viewpoint when I was being tested for an IBD as that can also affect B12 absorption.

I guess the main thing here is that it is only one of many symptoms. My bladder is one of the more nightmarish ones shall I say! Hard to control, even being caffeine free. Also something to note is that ALL of my symptoms are 10 X worse during the winter than they are during the summer. I think that has something to do with UV light and it's affects on the immune system. Even with me supplementing with Vit D during the winter...it only does so much good.

[lyndacarol]

Unfortunately they didn't give any detailed information with regards to the actual numbers. Being an NHS patient can be frustrating in that sense, as I only see what the neuro writes to my GP, which doesn't include that kind of info. I can totally see your hypothesis with regards to the Vit B 12, it makes a lot of sense and I actually took this viewpoint when I was being tested for an IBD as that can also affect B12 absorption.

I guess the main thing here is that it is only one of many symptoms. My bladder is one of the more nightmarish ones shall I say! Hard to control, even being caffeine free. Also something to note is that ALL of my symptoms are 10 X worse during the winter than they are during the summer. I think that has something to do with UV light and it's affects on the immune system. Even with me supplementing with Vit D during the winter...it only does so much good.

You are obviously knowledgeable and observant about medical symptoms, conditions, terms – it must be very frustrating not to have access to your own test results! As an American, I have had no experience with the NHS. Is there absolutely no way of getting your test results? Could your GP obtain a copy of them for you somehow? Are there labs and testing available outside the NHS system?

As I understand it, Crohn's/ulcerative colitis was suspected at one time because of symptoms; but you never received the actual diagnosis. Is there any chance your doctor could have missed it?

You might find this 5-minute video interesting (perhaps a little technical, but you will grasp the idea):

@2:45 Causes of B12 Deficiency are listed and include the inability of the stomach's parietal cells to secrete Intrinsic Factor (IF) and diseases of the terminal ileum of the bowel, which can affect B12 absorption ("What's a really common inflammatory bowel disorder that preferentially affects the terminal ileum? I hope you're yelling at your laptop right now and saying the words 'Crohn's disease' because you're right.")

I have found other sources that dispute the idea that anemia is always a sign/symptom of B12 deficiency.

The worsening of symptoms during the winter is a puzzle – your hypothesis of UV light affecting the immune system is widely held. In my opinion, there is definitely something at work – whether it is UV light, increased number of daylight hours, vitamin D production, nitric oxide, sulfate production… I have not seen proof of the specific answer.

Going forward… it might be worthwhile to contact The Pernicious Anaemia Society, even if PA is not your specific problem – your symptoms just seem to match up so well (http://www.pernicious-anaemia-society.org/index.php),
read through some information, like: http://www.pernicious-anaemia-society.o ... atment.php – (I find the line interesting here: "… or even better ask for a copy of your blood results so you can tell whether you have been tested – it is good to do this and keep them for your records."),
review their questionnaire (http://www.pernicious-anaemia-society.o ... t-2013.pdf)

Unfortunately, since you have been supplementing with liquid B-12 for the last year, B12 blood test results will be skewed and unreliable. If your doctor will order a methylmalonic acid test and a serum homocysteine test, these tests can indirectly indicate the B12 status (if MMA and Hcy are elevated, the B12 level is usually low).

This journey to diagnosis is not easy, as so many of us have experienced. But I am confident that, with your determination and intelligence, you will find the answer to your situation. All the best to you.

[GLR123]

Hi Carol,

All of the tests for Crohns/UC came back negative. Normal test came back for colonoscopy, MRI & Gastroscopy - apart from duodenitis & gastritis which is caused by my gastroparesis. So it pretty much rules it out sadly! Hence more tests...

What is interesting is that I have just been asked to retake my Evoked Potentials again as they came back inconclusive. Obvs the neuro is not happy about something, although I'm not exactly sure what this could mean.

Well many thanks for your help, I will be sure to check into the B-12 route, perhaps something will come back from that.

All the best.